Andrea Ballabio
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Andrea Ballabio's Degrees
- PhD Molecular and Cell Biology University of California, Berkeley
- Bachelors Biochemistry University of California, Berkeley
Why Is Andrea Ballabio Influential?
(Suggest an Edit or Addition)Andrea Ballabio's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Guidelines for the use and interpretation of assays for monitoring autophagy (2012) (6925)
- Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (2012) (2913)
- Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes (2008) (2360)
- TFEB Links Autophagy to Lysosomal Biogenesis (2011) (2323)
- A Gene Network Regulating Lysosomal Biogenesis and Function (2009) (1874)
- A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB (2012) (1486)
- A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome (1991) (1387)
- The tripartite motif family identifies cell compartments (2001) (1286)
- Signals from the lysosome: a control centre for cellular clearance and energy metabolism (2013) (1277)
- The DNA sequence of the human X chromosome (2005) (1072)
- Molecular definitions of autophagy and related processes (2017) (1036)
- Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2 (2003) (905)
- Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 (2021) (811)
- A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules (1991) (804)
- Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease (1998) (770)
- Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways. (2011) (698)
- TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop (2013) (681)
- A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo (2011) (634)
- Lysosomal calcium signaling regulates autophagy via calcineurin and TFEB (2015) (608)
- Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance (2011) (573)
- Characterization of a murine gene expressed from the inactive X chromosome (1991) (525)
- Lysosomal disorders: from storage to cellular damage. (2009) (511)
- A block of autophagy in lysosomal storage disorders. (2008) (500)
- Lysosomes as dynamic regulators of cell and organismal homeostasis (2019) (486)
- TFEB at a glance (2016) (478)
- Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition (2010) (456)
- The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy (2000) (388)
- Localization of the X inactivation centre on the human X chromosome in Xq13 (1991) (378)
- Autophagy in lysosomal storage disorders (2012) (353)
- Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22 (1997) (353)
- Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. (2002) (320)
- Identification of the gene for oral-facial-digital type I syndrome. (2001) (313)
- The Multiple Sulfatase Deficiency Gene Encodes an Essential and Limiting Factor for the Activity of Sulfatases (2003) (313)
- Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT (1999) (303)
- Lysosomal storage diseases: from pathophysiology to therapy. (2015) (292)
- Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. (2004) (289)
- Autophagy in major human diseases (2021) (282)
- A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy (1995) (278)
- The Autophagy–Lysosomal Pathway in Neurodegeneration: A TFEB Perspective (2016) (273)
- Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease (2013) (272)
- Selective clearance of aberrant tau proteins and rescue of neurotoxicity by transcription factor EB (2014) (269)
- The complex relationship between TFEB transcription factor phosphorylation and subcellular localization (2018) (263)
- Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia (2003) (260)
- Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. (1989) (258)
- A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. (1998) (249)
- Transcriptional and epigenetic regulation of autophagy in aging (2015) (249)
- Genomic analysis of the TRIM family reveals two groups of genes with distinct evolutionary properties (2008) (247)
- Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV. (2000) (234)
- Systems medicine and integrated care to combat chronic noncommunicable diseases (2011) (230)
- Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis (2017) (228)
- SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance (1999) (224)
- Human chromosome 21 gene expression atlas in the mouse (2002) (224)
- Transcription Factor EB Controls Metabolic Flexibility during Exercise (2017) (214)
- TFEB regulates autophagy: An integrated coordination of cellular degradation and recycling processes (2011) (214)
- TFEB and TFE3 cooperate in the regulation of the innate immune response in activated macrophages (2016) (204)
- Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders (2010) (204)
- mTOR-dependent phosphorylation controls TFEB nuclear export (2018) (203)
- Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS) (1998) (195)
- Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome (1995) (195)
- Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching (1996) (193)
- MicroRNA target prediction by expression analysis of host genes. (2009) (191)
- Identification of microRNA-regulated gene networks by expression analysis of target genes (2012) (186)
- Wilson Disease Protein ATP7B Utilizes Lysosomal Exocytosis to Maintain Copper Homeostasis (2014) (185)
- The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. (2000) (182)
- Impaired TFEB-Mediated Lysosome Biogenesis and Autophagy Promote Chronic Ethanol-Induced Liver Injury and Steatosis in Mice. (2018) (180)
- Lysosomal storage diseases as disorders of autophagy (2008) (177)
- Neuronal-Targeted TFEB Accelerates Lysosomal Degradation of APP, Reducing Aβ Generation and Amyloid Plaque Pathogenesis (2015) (176)
- Induction of Lysosomal Biogenesis in Atherosclerotic Macrophages Can Rescue Lipid-Induced Lysosomal Dysfunction and Downstream Sequelae (2014) (169)
- Lysosome: regulator of lipid degradation pathways (2014) (168)
- Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship. (2005) (167)
- EYA4, a novel vertebrate gene related to Drosophila eyes absent. (1999) (166)
- Sulfatases and human disease. (2005) (166)
- Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting (1993) (161)
- Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. (1992) (161)
- The sulfatase gene family. (1997) (159)
- Identification and expression of NEU3, a novel human sialidase associated to the plasma membrane. (2000) (157)
- Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson’s disease pathogenesis (2019) (157)
- Expression pattern of the Tbr2 (Eomesodermin) gene during mouse and chick brain development (1999) (156)
- Polyamines Control eIF5A Hypusination, TFEB Translation, and Autophagy to Reverse B Cell Senescence (2019) (156)
- A RANKL-PKCβ-TFEB signaling cascade is necessary for lysosomal biogenesis in osteoclasts. (2013) (148)
- A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. (1999) (146)
- Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome. (1996) (145)
- Transcriptional activation of RagD GTPase controls mTORC1 and promotes cancer growth (2017) (142)
- Intragenic Deletion of theKALIG-1Gene in Kallmann's Syndrome (1992) (139)
- Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non‐canonical E box and acts as a transcriptional repressor (1997) (139)
- Autosomal recessive Rolandic epilepsy with paroxysmal exercise‐induced dystonia and writer's cramp: Delineation of the syndrome and gene mapping to chromosome 16p12‐11.2 (1999) (139)
- Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. (2002) (136)
- Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria. (2001) (134)
- Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1 (1993) (132)
- Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency (2013) (130)
- Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. (1998) (130)
- Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome (2007) (129)
- Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. (1987) (129)
- Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. (1999) (129)
- A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. (1998) (129)
- WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. (2001) (127)
- FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (1998) (125)
- STUB1 regulates TFEB‐induced autophagy–lysosome pathway (2017) (124)
- Ocular albinism: evidence for a defect in an intracellular signal transduction system (1999) (124)
- The awesome lysosome (2016) (123)
- Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL (2016) (122)
- Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. (2007) (122)
- Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain (2002) (120)
- A novel curcumin analog binds to and activates TFEB in vitro and in vivo independent of MTOR inhibition (2016) (119)
- Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population. (1996) (117)
- Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3). (1996) (117)
- A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dubé syndrome (2020) (116)
- X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. (1996) (114)
- A deletion map of the human Yq11 region: implications for the evolution of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. (1991) (113)
- LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. (1999) (112)
- The rise and fall of positional cloning? (1993) (111)
- Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene family. (2004) (108)
- Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome. (2006) (107)
- Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency (2016) (104)
- A member of a gene family on Xp22.3, VCX-A, is deleted in patients with X-linked nonspecific mental retardation. (2000) (104)
- Lathosterolosis, a Novel Multiple-Malformation/Mental Retardation Syndrome Due to Deficiency of 3β-Hydroxysteroid-Δ5-Desaturase (2002) (104)
- Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. (2007) (103)
- Astrocyte dysfunction triggers neurodegeneration in a lysosomal storage disorder (2012) (103)
- The Phytoestrogen Genistein Modulates Lysosomal Metabolism and Transcription Factor EB (TFEB) Activation* (2014) (103)
- PCR test for cystic fibrosis deletion (1990) (102)
- X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats. (1999) (102)
- A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. (1994) (101)
- Correction of Hunter syndrome in the MPSII mouse model by AAV2/8-mediated gene delivery. (2006) (99)
- X‐linked Opitz syndrome: Novel mutations in the MID1 gene and redefinition of the clinical spectrum (2003) (99)
- The effects of total parenteral nutrition on immunodepression due to malnutrition. (1977) (99)
- Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. (2000) (99)
- A high resolution deletion map of human chromosome Xp22 (1993) (98)
- A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA (2013) (98)
- Proteoglycan desulfation determines the efficiency of chondrocyte autophagy and the extent of FGF signaling during endochondral ossification. (2008) (97)
- Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases. (1999) (97)
- Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease. (2007) (96)
- Identification of a new locus for medullary cystic disease, on chromosome 16p12. (1999) (96)
- Erratum: Corrigendum: The European dimension for the mouse genome mutagenesis program (2004) (95)
- Lysosome signaling controls the migration of dendritic cells (2017) (94)
- Effects of high-dose IgG on survival of surgical patients with sepsis scores of 20 or greater. (1991) (94)
- Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. (1989) (94)
- Fasting Imparts a Switch to Alternative Daily Pathways in Liver and Muscle. (2018) (93)
- The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. (1996) (92)
- The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. (2002) (91)
- Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway? (2000) (90)
- Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency (2007) (89)
- Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. (2000) (88)
- Identification and characterization of AFG3L2, a novel paraplegin-related gene. (1999) (88)
- Report of the sixth international workshop on X chromosome mapping 1995 (1995) (86)
- Kallmann syndrome. From genetics to neurobiology. (1993) (86)
- Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23 (2003) (85)
- Lysosomal adaptation: how the lysosome responds to external cues. (2014) (85)
- Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease. (1999) (85)
- Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. (2014) (84)
- Cystic fibrosis: A disorder with defective autophagy (2011) (84)
- Activation of the transcription factor EB rescues lysosomal abnormalities in cystinotic kidney cells. (2016) (83)
- A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1 (2000) (81)
- X-inactivation and human disease: X-linked dominant male-lethal disorders. (2006) (81)
- The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. (1996) (80)
- The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells (2008) (79)
- Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc4 expression levels in Mus spretus and Mus musculus. (1997) (78)
- Lysosomal calcium regulates autophagy (2015) (78)
- Evidence for interaction between human PRUNE and nm23-H1 NDPKinase (1999) (78)
- MiT/TFE Family of Transcription Factors, Lysosomes, and Cancer. (2019) (77)
- Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. (1992) (77)
- A submicroscopic deletion in Xq26 associated with familial situs ambiguus. (1997) (77)
- TFE3 regulates whole‐body energy metabolism in cooperation with TFEB (2017) (77)
- An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. (1995) (76)
- Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS) (2012) (76)
- Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein. (1995) (76)
- LC3 lipidation is essential for TFEB activation during the lysosomal damage response to kidney injury (2020) (76)
- Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. (2013) (75)
- TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKβ/VPS34 pathway (2019) (74)
- Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. (2000) (73)
- Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice (1995) (72)
- Lysosomal enhancement: A CLEAR answer to cellular degradative needs (2009) (72)
- The Microphthalmia Transcription Factor (Mitf) Controls Expression of the Ocular Albinism Type 1 Gene: Link between Melanin Synthesis and Melanosome Biogenesis (2004) (72)
- An international classification of inherited metabolic disorders (ICIMD) (2020) (71)
- JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial–mesenchymal interactions (1997) (70)
- TFEB-driven endocytosis coordinates MTORC1 signaling and autophagy (2018) (70)
- Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44. (2008) (69)
- SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. (2007) (69)
- Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. (1998) (69)
- Sepsis score and acute-phase protein response as predictors of outcome in septic surgical patients. (1987) (69)
- Drosophila Mitf regulates the V-ATPase and the lysosomal-autophagic pathway (2016) (69)
- The rapidly evolving view of lysosomal storage diseases (2021) (69)
- TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop (2013) (68)
- The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. (1998) (68)
- Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency (2004) (67)
- Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232. (1990) (67)
- Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. (2000) (67)
- mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy. (2017) (67)
- Two families of low-copy-number repeats are interspersed on Xp22.3: implications for the high frequency of deletions in this region. (1990) (67)
- Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region. (1996) (65)
- The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. (1996) (65)
- Modelling TFE renal cell carcinoma in mice reveals a critical role of WNT signaling (2016) (62)
- Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. (2002) (61)
- Amplification and overexpression of PRUNE in human sarcomas and breast carcinomas–a possible mechanism for altering the nm23-H1 activity (2001) (61)
- Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. (2007) (60)
- Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. (1994) (60)
- The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. (2005) (60)
- MID2, a homologue of the Opitz syndrome gene MID1: similarities in subcellular localization and differences in expression during development. (1999) (59)
- Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains. (1998) (59)
- Cloning and characterization of a putative human holocytochrome c-type synthetase gene (HCCS) isolated from the critical region for microphthalmia with linear skin defects (MLS). (1996) (58)
- Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. (1991) (56)
- The homeodomain-interacting protein kinase 2 gene is expressed late in embryogenesis and preferentially in retina, muscle, and neural tissues. (2002) (55)
- Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome. (1992) (55)
- Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly (1999) (54)
- Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? (1998) (54)
- Safety of arylsulfatase A overexpression for gene therapy of metachromatic leukodystrophy. (2007) (53)
- A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin. (1997) (53)
- X/Y translocation in a family with X‐linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene (1988) (53)
- Molecular and biochemical characterisation of a novel sulphatase gene: Arylsulfatase G (ARSG) (2002) (53)
- TFEB regulates lysosomal exocytosis of tau and its loss of function exacerbates tau pathology and spreading (2020) (52)
- The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. (1993) (51)
- Enhanced lysosomal degradation maintains the quiescent state of neural stem cells (2019) (51)
- Expression of a novel human sialidase encoded by the NEU2 gene. (1999) (50)
- Evidence for Genetic Heterogeneity in Benign Familial Hematuria (1999) (49)
- Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes (1992) (48)
- Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseases (2012) (48)
- Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway (2015) (47)
- Overexpression of TFEB Drives a Pleiotropic Neurotrophic Effect and Prevents Parkinson's Disease-Related Neurodegeneration. (2018) (47)
- Mammalian X-chromosome inactivation and the XIST gene. (1992) (46)
- Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. (1995) (45)
- Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides (2006) (45)
- Autosomal dominant transmission of familial laterality defects. (1996) (45)
- Slc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intolerance. (2007) (45)
- A new standard nomenclature for proteins related to Apx and Shroom (2006) (45)
- Mammalian X-chromosome inactivation and the XIST gene (1992) (45)
- Kallmann syndrome due to a translocation resulting in an X/Y fusion gene (1992) (45)
- Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum (2007) (45)
- Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. (1998) (44)
- Nutrient‐sensitive transcription factors TFEB and TFE3 couple autophagy and metabolism to the peripheral clock (2019) (44)
- Sulphatase activities are regulated by the interaction of sulphatase‐modifying factor 1 with SUMF2 (2005) (44)
- Autophagy master regulator TFEB induces clearance of toxic SERPINA1/α-1-antitrypsin polymers (2013) (44)
- Transcription factor EB overexpression prevents neurodegeneration in experimental synucleinopathies (2019) (43)
- Phosphorylation‐Regulated Degradation of the Tumor‐Suppressor Form of PED by Chaperone‐Mediated Autophagy in Lung Cancer Cells (2014) (42)
- Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. (1999) (42)
- TRIM9 is specifically expressed in the embryonic and adult nervous system (2002) (41)
- MiT/TFE factors control ER‐phagy via transcriptional regulation of FAM134B (2020) (41)
- Identification of incomplete coding sequences for steroid sulphatase on the human Y chromosome: evidence for an ancestral pseudoautosomal gene? (1987) (41)
- TFEB controls vascular development by regulating the proliferation of endothelial cells (2018) (41)
- Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization of 11 cases (2005) (41)
- Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. (2005) (40)
- Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. (1995) (40)
- Impaired TFEB-mediated lysosomal biogenesis promotes the development of pancreatitis in mice and is associated with human pancreatitis (2019) (39)
- X‐linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability (2002) (39)
- Italian multicentre study for application of a diagnostic algorithm in autoantibody testing for autoimmune rheumatic disease: conclusive results. (2011) (39)
- Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. (2000) (39)
- Identification of a novel homolog of the Drosophila staufen protein in the chromosome 8q13-q21.1 region. (1999) (39)
- Efficacy of a combined intracerebral and systemic gene delivery approach for the treatment of a severe lysosomal storage disorder. (2011) (38)
- Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. (1999) (38)
- A 5' regulatory sequence containing two Ets motifs controls the expression of the Wiskott-Aldrich syndrome protein (WASP) gene in human hematopoietic cells. (1998) (38)
- What else is in store for autophagy? Exocytosis of autolysosomes as a mechanism of TFEB-mediated cellular clearance in Pompe disease (2013) (37)
- Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. (2009) (37)
- A YAC-based binning strategy facilitating the rapid assembly of cosmid contigs: 1.6 Mb of overlapping cosmids in Xp22. (1994) (36)
- A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder (2014) (36)
- Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes. (1998) (36)
- The iduronate sulfatase gene: isolation of a 1.2-Mb YAC contig spanning the entire gene and identification of heterogeneous deletions in patients with Hunter syndrome. (1992) (36)
- Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia (2017) (36)
- Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene (2007) (35)
- Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America (2000) (35)
- AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease (2017) (35)
- Characterization of a novel chromo domain gene in xp22.3 with homology to Drosophila msl-3. (1999) (34)
- Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356 (2016) (33)
- X‐linked Kallmann syndrome (1993) (33)
- Identification of a new EGF-repeat-containing gene from human Xp22: a candidate for developmental disorders. (2000) (32)
- Sepsis score and complement factor B for monitoring severely septic surgical patients and for predicting their survival. (1985) (31)
- Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. (1997) (31)
- Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis. (1993) (31)
- Lack of Sik1 in Mouse Embryonic Stem Cells Impairs Cardiomyogenesis by Down-Regulating the Cyclin-Dependent Kinase Inhibitor p57kip2 (2010) (31)
- TFEB-mediated increase in peripheral lysosomes regulates store-operated calcium entry (2017) (31)
- X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome (1986) (31)
- Editorial :Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). DOI: 10.1080/15548627.2015.1100356;WOS:000373595400001; 2-s2.0-85013763791&;PMID: 26799652 (2016) (31)
- Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. (1996) (30)
- Connexin43 mutations in sporadic and familial defects of laterality. (1995) (30)
- X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. (1996) (30)
- Surgical and oncological outcomes after complete mesocolic excision in right-sided colon cancer compared with conventional surgery: a retrospective, single-institution study (2017) (29)
- On the primary site of control in the spontaneous development of small‐intestinal sucrase‐isomaltase after birth (1986) (29)
- Identification and characterization of a novel member of the dystrobrevin gene family (1998) (29)
- Contiguous deletion syndromes. (1991) (28)
- Genetics of Hunter Syndrome: carrier detection, new mutations, segregation and linkage analysis (1986) (28)
- Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome) (2007) (28)
- Identification of new markers in Xp21 between DXS28 (C7) and DMD. (1992) (28)
- Molecular characterization of human X/Y translocations suggests their aetiology through aberrant exchange between homologous sequences on Xp and Yq (1989) (28)
- TFEB activation in macrophages attenuates postmyocardial infarction ventricular dysfunction independently of ATG5-mediated autophagy. (2019) (27)
- GADD34 is a modulator of autophagy during starvation (2020) (26)
- GABARAP sequesters the FLCN-FNIP tumor suppressor complex to couple autophagy with lysosomal biogenesis. (2021) (26)
- Tagging genes with cassette-exchange sites (2005) (26)
- Excessive dietary lipid intake provokes an acquired form of lysosomal lipid storage disease in the kidney (2018) (26)
- Autophagy in astrocytes (2012) (26)
- Cell metabolism: Autophagy transcribed (2014) (25)
- The human ROX gene: genomic structure and mutation analysis in human breast tumors. (1998) (25)
- Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus. (1996) (24)
- Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification (1990) (23)
- Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. (2018) (23)
- X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. (1997) (23)
- A practical guide to orient yourself in the labyrinth of genome databases. (1998) (23)
- Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome (1987) (22)
- Long-range physical mapping around the human steroid sulfatase locus. (1990) (22)
- Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency. (1991) (22)
- Deletion spanning the 5′ ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis (1994) (22)
- SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter family. (1999) (22)
- TFEB regulates murine liver cell fate during development and regeneration (2020) (22)
- Drosophila-related expressed sequences. (1997) (22)
- Activation of the c‐Jun N‐terminal kinase pathway aggravates proteotoxicity of hepatic mutant Z alpha1‐antitrypsin (2017) (22)
- c-Abl Inhibition Activates TFEB and Promotes Cellular Clearance in a Lysosomal Disorder (2020) (21)
- The sulfatase gene family: cross-species PCR cloning using the MOPAC technique. (1992) (21)
- MAEG, an EGF-repeat containing gene, is a new marker associated with dermatome specification and morphogenesis of its derivatives (2000) (21)
- Cloning and characterization of the cDNA for the murine iduronate sulfatase gene. (1993) (20)
- HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models. (2020) (19)
- TargetFinder: searching annotated sequence databases for target genes of transcription factors (1999) (19)
- Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome. (1995) (19)
- Abnormal cell-clearance and accumulation of autophagic vesicles in lymphocytes from patients affected with Ataxia-Teleangiectasia. (2017) (19)
- A lysosome-targeted DNA nanodevice selectively targets macrophages to attenuate tumours (2021) (19)
- The gene for X-linked Kallmann syndrome: a human neuronal migration defect. (1992) (18)
- Loss of function of transcription factor EB remodels lipid metabolism and cell death pathways in the cardiomyocyte. (2020) (18)
- A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes (2010) (18)
- Light‐responsive microRNA miR‐211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance (2020) (18)
- Physical mapping of 14 new DNA markers isolated from the human distal Xp region. (1991) (17)
- The lysosomal disease caused by mutant VPS33A (2019) (17)
- X‐linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia (1987) (17)
- Histone methyl-transferases and demethylases in the autophagy regulatory network: the emerging role of KDM1A/LSD1 demethylase (2018) (17)
- Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS) (2001) (17)
- Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. (1994) (17)
- The gene for X-linked Kallmann syndrome: a human neuronal migration defect (1992) (16)
- Linkage mapping of a new syndromic form of X-linked mental retardation, MRXS7, associated with obesity (1999) (16)
- A new region of conservation is defined between human and mouse X chromosomes. (1996) (16)
- Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship. (1986) (16)
- Multiple sulfatase deficiency with neonatal manifestation (2014) (15)
- A gene toolbox for monitoring autophagy transcription (2021) (15)
- A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanisms. (1997) (15)
- Ocular findings and skin histology in a group of patients with X‐linked ichthyosis (1988) (15)
- Bringing Kallmann syndrome into focus. (1993) (15)
- An Italian Multicenter Study for Application of a Diagnostic Algorithm in Autoantibody Testing (2009) (14)
- Self-eating in skeletal development: Implications for lysosomal storage disorders (2009) (14)
- TFEB controls retromer expression in response to nutrient availability (2019) (14)
- Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'. (1984) (14)
- Comparative mapping of Xp22 genes in hominoids – evolutionary linear instability of their Y homologues (1997) (14)
- DG-CST (Disease Gene Conserved Sequence Tags), a database of human–mouse conserved elements associated to disease genes (2004) (13)
- Non-canonical mTORC1 signaling at the lysosome. (2022) (13)
- TFEB links MYC signaling to epigenetic control of myeloid differentiation and acute myeloid leukemia. (2020) (13)
- X chromosome gene dosage compensation in female mammals (1993) (13)
- Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype (2021) (13)
- Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes. (2002) (13)
- TFEB Modulates p21/WAF1/CIP1 during the DNA Damage Response (2020) (13)
- Isolation and characterization of a yeast artificial chromosome (YAC) contig around the human steroid sulfatase gene. (1992) (12)
- Reelin: a novel extracellular matrix protein involved in brain lamination. (1995) (12)
- A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). (1994) (12)
- Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation (2008) (12)
- The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene function. (1998) (12)
- Rapid assembly of λ phage contigs within YAC clones (1991) (12)
- is mutated in patients with lysinuric protein intolerance (1999) (12)
- An in vivo doxycycline-controlled expression system for functional studies of the retina. (2003) (12)
- Sixth and seventh tumor-node-metastasis staging system compared in gastric cancer patients. (2013) (12)
- A very high density microsatellite map (1 STR / 41 kb) of 1.7 Mb on Xp22 spanning the microphthalmia with linear skin defects (MLS) syndrome critical region (1998) (11)
- Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency (2004) (11)
- Cancer of unknown primary stem-like cells model multi-organ metastasis and unveil liability to MEK inhibition (2021) (11)
- TFEB deficiency attenuates mitochondrial degradation upon brown adipose tissue whitening at thermoneutrality (2021) (11)
- TFEB induces mitochondrial itaconate synthesis to suppress bacterial growth in macrophages (2022) (10)
- A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. (1993) (9)
- Sulfatases are determinants of alveolar formation. (2012) (9)
- Methods to Monitor and Manipulate TFEB Activity During Autophagy. (2017) (9)
- Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders (2021) (9)
- Mucopolysaccharidosis III B: hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients (1984) (9)
- Neurofibromatosis 1 Presenting with Multiple Duodenal Gists Associated with a Somatostatin-Producing D Cell Neoplasm (2013) (8)
- Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints. (1992) (7)
- Loss of Hepatic Transcription Factor EB Attenuates Alcohol-Associated Liver Carcinogenesis. (2021) (7)
- High-density physical mapping of a 3-Mb region in Xp22.3 and refined localization of the gene for X-linked recessive chondrodysplasia punctata (CDPX1). (1995) (7)
- DRES search engine: of flies, men and ESTs. (1997) (7)
- Genetic and physical mapping of a voltage-dependent chloride channel gene to human 4q32 and to mouse 8. (1996) (7)
- Right hepatic artery replacement from superior mesenteric artery in combined liver-whole pancreas procurement. Technical problems and liver graft artery reconstruction. (1994) (6)
- Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum (2016) (6)
- Telencephalic Embryonic Subtractive Sequences: A Unique Collection of Neurodevelopmental Genes (2005) (6)
- Improved SARS-CoV-2 sequencing surveillance allows the identification of new variants and signatures in infected patients (2022) (5)
- Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant protein. (1998) (5)
- New mutations identified in the ocular albinism type 1 gene. (2007) (5)
- Keeping the autophagy tempo (2019) (5)
- MLS, Aicardi and Goltz syndromes: how many genes involved? (1995) (5)
- Potentiation of rifampin activity in a mouse model of tuberculosis by activation of host transcription factor EB (2020) (5)
- Steroid sulphatase deficiency and hypogonadism (1984) (5)
- Activation of JNK pathway aggravates proteotoxicity of hepatic mutant Z alpha1-antitrypsin. (2017) (4)
- Correction to: Surgical and oncological outcomes after complete mesocolic excision in right-sided colon cancer compared with conventional surgery: a retrospective, single-institution study (2017) (4)
- New targets for old diseases: lessons from mucolipidosis type II (2013) (4)
- TFEB-mTORC1 feedback loop in metabolism and cancer (2017) (4)
- Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature. (2014) (4)
- Functional genomics of the B-box gene family reveals a possible role in subcellular compartmentalization (1999) (4)
- Exclusion of PPEF as the gene causing X-linked juvenile retinoschisis (1997) (4)
- Genetics of disease The sex chromosomes and human disease. (2006) (4)
- Linkage mapping of a nonspecific form of X-linked mental retardation (MRX53) in a large Pakistani family. (2001) (4)
- Splenic Artery Transposition Graft for Hepatic Artery Aneurysm and Occlusion. (2017) (3)
- GABARAP membrane conjugation sequesters the FLCN-FNIP tumor suppressor complex to activate TFEB and lysosomal biogenesis (2021) (3)
- Rapid assembly of lambda phage contigs within YAC clones. (1991) (3)
- Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency (1994) (3)
- Erratum: Opiz G/BBB syndrome in Xp22: Mutations in the MID1 gene cluster in the carboxy-terminal domain (American Journal of Human Genetics (September 1998) 63 (703-710)) (1998) (3)
- Chromosome abnormalities in and pathogenesis of Kallmann syndrome. (1990) (3)
- Modified duct-to-duct reconstruction after orthotopic liver transplantation: early and long-term results in 230 procedures. (1994) (3)
- Next-Generation Sequencing Approaches to Define the Role of the Autophagy Lysosomal Pathway in Human Disease: The Example of LysoPlex. (2017) (3)
- Disrupting the MYC-TFEB Circuit Impairs Amino Acid Homeostasis and Provokes Metabolic Anergy (2022) (3)
- Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. (2004) (2)
- Victor McKusick and his role in the founding of the European School of Genetic Medicine (2021) (2)
- 10. Impairment of autophagy in lysosomal storage diseases (2009) (2)
- A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells (2019) (2)
- Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency (1987) (2)
- Sulfatase activities are regulated by the interaction of the sulfatase‐modifying factor 1 with SUMF2 (2016) (2)
- TFEBexplorer: An integrated tool to study genes regulated by the stress-responsive Transcription Factor EB (2022) (2)
- The lysosomal Ragulator complex activates NLRP3 inflammasome in vivo via HDAC6 (2022) (2)
- Welcome to PathoGenetics (2008) (2)
- GENETIC STUDY OF HUMAN ADULT-TYPE HYPOLACTASIA BY ANALYSIS OF RESTRICTION FRAGMENT LENCHT POLYMORPHISHS (RFLPs) OF THE LACTASE GENE (1990) (2)
- A method to direct sequence cosmid LAWRIST16 clones. (1997) (2)
- Faculty Opinions recommendation of ATP-citrate lyase links cellular metabolism to histone acetylation. (2009) (2)
- Fighting rare diseases: the model of the telethon research institutes in Italy. (2015) (2)
- T. rex attacks the lysosome (2012) (1)
- Left thoracic approach for cancer of cardia: early and late results. (1997) (1)
- More on X‐Linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia (1988) (1)
- Complex care of patients with multiple sulfatase deficiency: Clinical cases and guideline consensus statement (2018) (1)
- The mouse iduronate sulfatase gene: identification of a novel transcript. (1993) (1)
- Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function (2023) (1)
- A 12-year experience in the treatment of gastric cancer. Long-term follow-up and survival analyses at 5 and 10 years (2012) (1)
- A Bg/II polymorphism in the COL4A6 gene. (1994) (1)
- TFEB-mediated lysosomal exocytosis alleviates high-fat diet–induced lipotoxicity in the kidney (2023) (1)
- A.I.2 The transcriptional control of autophagy in health and disease (2014) (1)
- TFEB, Master Regulator of Cellular Clearance (2016) (1)
- C. Thomas Caskey (1938-2022). (2022) (1)
- Corrigendum to: Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum (The EMBO Journal, (2007), 26, 10, (2443-2453), 10.1038/sj.emboj.7601695) (2016) (1)
- TFEB Links MYC Signaling to Epigenetic Control of Myeloid Differentiation and Acute Myeloid Leukemia. (2021) (1)
- New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency (2022) (1)
- Cells that co-express an enzyme that generates a sulfatase and a C-formyliglycine and its methods and uses (2004) (0)
- Multiple Mechanisms Converging on Transcription Factor EB Activation by the Natural Phenol Pterostilbene (2021) (0)
- L2. How the lysosome tells the nucleus what to do (2019) (0)
- OR7-006 – Autophagy as a player in inflammation in TRAPS (2013) (0)
- Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders (2022) (0)
- TFEB regulates murine liver cell fate during development and regeneration (2020) (0)
- The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells (2017) (0)
- Stem-like cells from Cancer of Unknown Primary are endowed with distinctive hypermetastatic properties and unveil liability to MEK inhibition (2020) (0)
- New Insights Into Ocular Albinism Type I Mouse Visual System (2007) (0)
- A 5 8 Regulatory Sequence Containing Two Ets Motifs Controls the Expression of the Wiskott-Aldrich Syndrome Protein ( WASP ) Gene in Human Hematopoietic Cells (1998) (0)
- Multiomic Approach Characterises the Neuroprotective Role of Retromer in Regulating Lysosomal Health (2022) (0)
- Ncrna Reference(s) (0)
- Strategies for disease identification (1997) (0)
- Editorial Board and Contents (2016) (0)
- Cell biology: Repairing cells' disposal system (2011) (0)
- Extracellular Matrix Proteoglycans Regulate Alveologenesis in a Mouse Model of Multiple-Sulfatase Deficiency. (2009) (0)
- Abstract 793: Macrophage Transcription Factor EB Attenuates Left Ventricular Remodeling Via Lysosomal Lipolysis (2019) (0)
- Faculty Opinions recommendation of Widespread monoallelic expression on human autosomes. (2007) (0)
- LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases (2015) (0)
- MLP06 Multiple sulfatase deficiency: a report of two new cases resulting from a novel mutation (2007) (0)
- [The role of esophageal manometry in the surgical treatment of epiphrenic diverticula]. (1989) (0)
- A transcriptomic study of Williams-Beuren syndrome associated genes in mouse embryonic stem cells (2019) (0)
- The Mouse Model For Ocular Albinism Type 1 (OA1) As A Tool To Study Oa1 Function In RPE Development (2002) (0)
- 15. ON THE PRIMARY SITE OF CONTROL IN SPONTANEOUS AND IN GLUCOCORTICOID-TRIGGERED PRECOCIOUS DEVELOPMENT OF SMALL-INTESTINAL SUCRASE-ISOMALTASE COMPLEX (1987) (0)
- [On the relations between acquired cardiac diseases and ABO blood group systems]. (1965) (0)
- Proteoglycan desulfation regulates endochondral ossification (2008) (0)
- Analysis of TFEB expression in lysosomal storage disorders (2015) (0)
- 864. Characterization of Transgenic Mice Over_ Expressing Arylsulfatase A: Implications for Gene Therapy and Sulfatases Activation Mechanisms (2006) (0)
- Reply to “Breaking laws and obeying rules” (1996) (0)
- Contiguous genesyndromes duetodeletions inthedistal short arm ofthehumanX chromosome (1989) (0)
- 435. Functional and Morphological Rescue of the Type I Ocular Albinism Murine Retina Following AAV-Mediated Gene Transfer (2005) (0)
- KALLMANN SYNDROME: A DEFECT IN NEURAL TARGET RECOGNITION (1993) (0)
- CLINICAL SPECTRUM AND MOLECULAR BASIS OF STEROID SULPHATASE DEFICIENCY (1987) (0)
- Nanotechnology: Zap a molecule, make it spin (2011) (0)
- Structural basis for mTORC1-dependent regulation of the lysosomal and autophagic transcription factor TFEB (2022) (0)
- Improving surgical technique in colorectal surgery: Complete mesocolic excision (2012) (0)
- Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non‐canonical E box and acts as a transcriptional repressor (2013) (0)
- Diagnosis and treatment of multiple sulfatase deficiency and secondly by use of a -formylglycine generating enzyme (FGE). (2004) (0)
- Commentary-------------------------------------------------Bringing Kallmann Syndrome into Focus (2013) (0)
- Membrane Traffic Molecular Structure, Function, and Dynamics of Clathrin-Mediated (2014) (0)
- Disease‐related Genes: Functional Analysis (2006) (0)
- Microbiology: Diet dictates gut bacteria (2011) (0)
- STUDIES ON THE MOLECULAR BASIS OF STEROID SULPHATASE DEFICIENCY IN MAN (1987) (0)
- Transcriptional regulation of mTORC1 in cancer (2018) (0)
- The TFEB-TGIF1 axis regulates EMT in mouse epicardial cells (2022) (0)
- Comparison of the 6th and 7th editions of the UICC/AJCC TNM staging system in gastric cancer patients in a single institution (2012) (0)
- [CLINICO-STATISTICAL FINDINGS ON ACQUIRED CARDIAC VALVE DISEASES]. (1965) (0)
- Disease-related Genes: Identification (2006) (0)
- 250. Correction of Hunter Syndrome in the Ids-Knock-Out Mouse Model by r-AVV Mediated Gene Therapy (2005) (0)
- A novel X-linked member of the human zinc finger protein gene family: isolation, mapping, and expression (2004) (0)
- Expression atlas of the mouse orthologues of the Williams-Beuren syndrome critical region genes (2003) (0)
- DURI NG DIFFERENTIATION OF CACO-2 CELL LINE. (1986) (0)
- Louis-Jeantet Prize Winner : Perspective The awesome lysosome (2015) (0)
- Combined liver-pancreas procurement. Technical problems and arterial reconstructions [IL PRELIEVO COMBINATO FEGATO-PANCREAS. PROBLEMI TECNICI E RICOSTRUZIONE ARTERIOSA] (1995) (0)
- Lysosomes as dynamic regulators of cell and organismal homeostasis (2019) (0)
- mTOR-dependent phosphorylation controls TFEB nuclear export (2018) (0)
- A Slc7a7 null mouse model of lysinuric protein intolerance. (2003) (0)
- Isolation and characterization of a steroid sulfatase cDNA clone : Genomic deletions in patients with X-chromosome-linked ichthyosis ( human X chromosome / Kallmann syndrome / inactivation ) (0)
- Abstract 18666: Macrophage TFEB Overexpression Attenuates Left Ventricular Remodeling After Myocardial Infarction (2017) (0)
- Faculty Opinions recommendation of Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. (2003) (0)
- On the primary site of control in the spontaneous sucrase-isomaltase after developmek of small-intestinal birth (1986) (0)
- Xp contiguous gene syndromes: from clinical observation to disease gene identification (2000) (0)
- c-Abl Inhibition Activates TFEB: A Novel Way To Promote Cellular Clearance in Lysosomal Disorders (2020) (0)
- Positional Cloning, Transcription Mapping, and Whole Genome Gene Identification: The Choice is Yours! (1996) (0)
- analysis of target genes Identification of microRNA-regulated gene networks by expression (2012) (0)
- Impact of pancreaticojejunostomy's surgical technique on post-operative pancreatic fistula: A single centre experience (2015) (0)
- Molecular diagnosis of Alport syndrome: the experience in Siena. (1997) (0)
- BREAKING LAWS AND OBEYING RULES. AUTHOR'S REPLY (1996) (0)
- Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency (2023) (0)
- Analysis of autophagy signaling in lysosome disease model mice (2015) (0)
- [Non-malignant esophagotracheal fistulas in adults. Experience with 35 cases]. (1992) (0)
- Abstract 2871: Hypermetastatic stem-like cells from 'cancer of unknown primary' (CUP) model multi-organ dissemination and unveil liability to MEK inhibition (2021) (0)
- Analysis of effect of TNF-alpha on transcription factor TFEB expression in neuroinflammation (2017) (0)
- A semi-automated method for preparing high-quality plasmid templates in 96-well format ready for automated DNA sequencing (1997) (0)
- Effects of mal nutrition and total parenteral nutrition on immuno globulin levels cellular immunity and phagocytic function in the dog (1975) (0)
- Dysregulation of Nutrient S ensing andCLEARance in Presenilin Deficiency Graphical (2016) (0)
- Hepatic autophagy potentiates ureagenesis and its enhancement protects against acute and chronic hyperammonemia (2018) (0)
- AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease (2017) (0)
- Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson’s disease pathogenesis (2019) (0)
- Tfeb Links MYC Signaling to Epigenetic Control of Acute Myeloid Leukemia Cell Death and Differentiation (2020) (0)
- A 5′ Regulatory Sequence Containing Two Ets Motifs Controls the Expression of the Wiskott-Aldrich Syndrome Protein (WASP) Gene in Human Hematopoietic Cells (1998) (0)
- Exclusion of the Txp3 gene as the gene causing X-I inked juvenile retinoschisis (2014) (0)
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What Schools Are Affiliated With Andrea Ballabio?
Andrea Ballabio is affiliated with the following schools:
