Hudson H. Freeze
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Hudson H. Freeze's Degrees
- PhD Biochemistry University of California, Berkeley
- Doctorate Medicine University of California, San Francisco
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(Suggest an Edit or Addition)Hudson H. Freeze'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
- Essentials of Glycobiology (1999) (2178)
- Methods and Applications (2009) (907)
- Symbol Nomenclature for Graphical Representations of Glycans. (2015) (693)
- Thermus aquaticus gen. n. and sp. n., a Nonsporulating Extreme Thermophile (1969) (680)
- Proinflammatory S100 Proteins Regulate the Accumulation of Myeloid-Derived Suppressor Cells1 (2008) (680)
- Lysosomal Protease Pathways to Apoptosis (2001) (576)
- Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. (1998) (370)
- Genetic defects in the human glycome (2006) (339)
- RAGE, carboxylated glycans and S100A8/A9 play essential roles in colitis-associated carcinogenesis (2008) (299)
- Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder (2004) (297)
- Endogenous damage-associated molecular pattern molecules at the crossroads of inflammation and cancer. (2009) (268)
- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder (2010) (256)
- Altered glycan structures: the molecular basis of congenital disorders of glycosylation. (2005) (248)
- Correction of leukocyte adhesion deficiency type II with oral fucose. (1999) (236)
- Solving glycosylation disorders: fundamental approaches reveal complicated pathways. (2014) (222)
- Alpha-Mannosidase-II Deficiency Results in Dyserythropoiesis and Unveils an Alternate Pathway in Oligosaccharide Biosynthesis (1997) (193)
- Multiple phenotypes in phosphoglucomutase 1 deficiency. (2014) (192)
- Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge* (2013) (182)
- Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway (2014) (175)
- Two Proteins Modulating Transendothelial Migration of Leukocytes Recognize Novel Carboxylated Glycans on Endothelial Cells1 (2001) (172)
- Updates to the Symbol Nomenclature For Glycans (SNFG) Guidelines. (2019) (170)
- GLUT14, a duplicon of GLUT3, is specifically expressed in testis as alternative splice forms. (2002) (168)
- Symbol nomenclature for glycan representation (2009) (167)
- Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells. (2008) (166)
- Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) (2000) (165)
- Perspectives on Glycosylation and Its Congenital Disorders. (2018) (164)
- Protein-losing enteropathy after fontan operation: investigations into possible pathophysiologic mechanisms. (2006) (163)
- Neurological aspects of human glycosylation disorders. (2015) (161)
- Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. (2014) (158)
- Neurology of inherited glycosylation disorders (2012) (157)
- TMEM165 deficiency causes a congenital disorder of glycosylation. (2012) (147)
- Update and perspectives on congenital disorders of glycosylation. (2001) (144)
- N‐Glycans on the receptor for advanced glycation end products influence amphoterin binding and neurite outgrowth (2002) (141)
- Deficiency of UDP‐GlcNAc:Dolichol Phosphate N‐Acetylglucosamine‐1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij (2003) (137)
- Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG‐Ia) (2000) (137)
- Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. (1996) (137)
- Mannose metabolism: more than meets the eye. (2014) (133)
- Heparan sulfate and syndecan-1 are essential in maintaining murine and human intestinal epithelial barrier function. (2008) (122)
- CDG nomenclature: time for a change! (2009) (121)
- Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism☆☆☆ (1999) (121)
- COG8 deficiency causes new congenital disorder of glycosylation type IIh. (2007) (120)
- A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). (2001) (119)
- Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. (2012) (116)
- Genetic defects in the human glycome (2006) (113)
- Direct utilization of mannose for mammalian glycoprotein biosynthesis. (1998) (110)
- Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. (2013) (110)
- Glycosylation diseases: quo vadis? (2009) (109)
- Structure-activity profiles of complex biantennary glycans with core fucosylation and with/without additional alpha 2,3/alpha 2,6 sialylation: synthesis of neoglycoproteins and their properties in lectin assays, cell binding, and organ uptake. (2002) (107)
- Dissecting the molecular organization of the translocon-associated protein complex (2017) (99)
- Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond. (2007) (96)
- Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG (1999) (93)
- Stimulation of chondrocyte-mediated cartilage destruction by S100A8 in experimental murine arthritis. (2008) (91)
- Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. (2005) (91)
- Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. (2000) (89)
- Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. (1999) (89)
- N-Glycans -- Essentials of Glycobiology (2009) (88)
- Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism. (2018) (87)
- Ablation of Mouse Phosphomannose Isomerase (Mpi) Causes Mannose 6-Phosphate Accumulation, Toxicity, and Embryonic Lethality* (2006) (86)
- Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I. (1997) (84)
- Molecular Imaging of N-linked Glycosylation Suggests Glycan Biosynthesis Is a Novel Target for Cancer Therapy (2010) (84)
- Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (2011) (84)
- Structural analysis of the asparagine-linked oligosaccharides from three lysosomal enzymes of Dictyostelium discoideum. Evidence for an unusual acid-stable phosphodiester. (1983) (80)
- Expanding spectrum of congenital disorder of glycosylation Ig (CDG‐Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality (2007) (79)
- Uncoupling of chondroitin sulfate glycosaminoglycan synthesis by brefeldin A (1991) (79)
- Mannose Enters Mammalian Cells Using a Specific Transporter That Is Insensitive to Glucose (*) (1996) (76)
- Disorders in protein glycosylation and potential therapy: tip of an iceberg? (1998) (75)
- Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. (2013) (75)
- Genetic and metabolic analysis of the first adult with congenital disorder of glycosylation type Ib: long-term outcome and effects of mannose supplementation. (2001) (75)
- Glycobiology of neuromuscular disorders. (2003) (74)
- NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. (2015) (73)
- Golgi glycosylation and human inherited diseases. (2011) (73)
- Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. (2013) (72)
- Sulfated N-linked oligosaccharides in mammalian cells. I. Complex-type chains with sialic acids and O-sulfate esters. (1988) (71)
- On the nomenclature of congenital disorders of glycosylation (CDG) (2008) (71)
- Evolution of Glycan Diversity (2009) (71)
- Heparan Sulfate Plays a Central Role in a Dynamic in Vitro Model of Protein-losing Enteropathy* (2006) (71)
- The congenital disorders of glycosylation: A multifaceted group of syndromes (2006) (70)
- Endoglycosidase and Glycoamidase Release of N‐Linked Glycans (2010) (69)
- Human disorders in N-glycosylation and animal models. (2002) (68)
- Characterization of Dictyostelium discoideum cathepsin D. (1999) (66)
- DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. (2012) (66)
- Structural analysis of N-linked oligosaccharides from glycoproteins secreted by Dictyostelium discoideum. Identification of mannose 6-sulfate. (1986) (66)
- Genetic Disorders of Glycosylation (2009) (65)
- A comparison of molecular properties of hepatic triglyceride lipase and lipoprotein lipase from human post-heparin plasma. (1978) (65)
- Human Fibroblasts Prefer Mannose over Glucose as a Source of Mannose for N-Glycosylation (1997) (64)
- Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? (1994) (64)
- Carboxylated N‐glycans on RAGE promote S100A12 binding and signaling (2010) (62)
- Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms. (2004) (62)
- Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors. (2015) (61)
- Molecular and clinical characterization of a Moroccan Cog7 deficient patient. (2007) (61)
- Unaltered catabolism of desialylated low-density lipoprotein in the pig and in cultured rat hepatocytes. (1979) (61)
- Dictyostelium lysosomal proteins with different sugar modifications sort to functionally distinct compartments. (1997) (60)
- Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy. (2005) (60)
- Sialic Acids -- Essentials of Glycobiology (2009) (60)
- Proteoglycans and Sulfated Glycosaminoglycans -- Essentials of Glycobiology (2009) (60)
- Spatial Regulation of Golgi Phosphatidylinositol‐4‐Phosphate is Required for Enzyme Localization and Glycosylation Fidelity (2010) (60)
- Identification of a Novel Glycosaminoglycan Core-like Molecule I (1995) (59)
- Balancing N-linked glycosylation to avoid disease. (2001) (59)
- Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse. (2001) (59)
- Congenital Disorders of Glycosylation: Glycosylation Defects in Man and Biological Models for Their Study (2001) (58)
- Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG). (2000) (58)
- Structure and Biosynthesis (2009) (57)
- International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up (2019) (57)
- Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia (2001) (57)
- Enzymatic assay of D-mannose in serum. (1997) (57)
- Agm1/Pgm3-Mediated Sugar Nucleotide Synthesis Is Essential for Hematopoiesis and Development (2007) (55)
- Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus. (2009) (55)
- Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL) (2015) (54)
- HNF4α antagonists discovered by a high-throughput screen for modulators of the human insulin promoter. (2012) (54)
- Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import (2018) (53)
- Alpha- and beta-xylosides alter glycolipid synthesis in human melanoma and Chinese hamster ovary cells. (1993) (53)
- Identification of mannose 6-phosphate receptors in rabbit alveolar macrophages. (1984) (52)
- The Metabolic Origins of Mannose in Glycoproteins*♦ (2014) (51)
- Glycans in Acquired Human Diseases (2009) (51)
- Cloning and characterization of glucose transporter 11, a novel sugar transporter that is alternatively spliced in various tissues. (2002) (50)
- A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. (2018) (50)
- Isolation and characterization of a component of the surface sheath of Dictyostelium discoideum. (1977) (50)
- A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. (2002) (50)
- Extension of lipid-linked oligosaccharides is a high-priority aspect of the unfolded protein response: endoplasmic reticulum stress in Type I congenital disorder of glycosylation fibroblasts. (2002) (49)
- A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. (2014) (48)
- Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity. (1999) (47)
- Cryptogenic Liver Disease in Four Children: A Novel Congenital Disorder of Glycosylation (2006) (46)
- Acid hydrolases from Dictyostelium discoideum contain phosphomannosyl recognition markers. (1980) (46)
- A glycogene mutation map for discovery of diseases of glycosylation. (2015) (46)
- Thermostable Aldolase from Thermus aquaticus (1970) (45)
- Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts. (2005) (45)
- A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency (2012) (45)
- Endoglycosidase and Glycoamidase Release of N‐Linked Glycans (2010) (44)
- A Lysosomal Cysteine Proteinase from Dictyostelium discoideum Contains N-Acetylglucosamine-1-phosphate Bound to Serine but Not Mannose-6-phosphate on N-linked Oligosaccharides (*) (1996) (44)
- Metabolic manipulation of glycosylation disorders in humans and animal models. (2010) (43)
- CDG‐Id in two siblings with partially different phenotypes (2007) (43)
- Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG‐Ib) (2000) (43)
- Biosynthesis of oligosaccharides in intact Golgi preparations from rat liver. Analysis of N-linked glycans labeled by UDP-[6-3H]N-acetylglucosamine. (1993) (42)
- Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient (2005) (42)
- The transcription factor ATF2 promotes melanoma metastasis by suppressing protein fucosylation (2015) (42)
- Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia. (2011) (42)
- Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients. (2009) (41)
- A congenital disorder of deglycosylation: biochemical characterization of N‐glycanase 1 deficiency in patient fibroblasts (607.3) (2014) (41)
- Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. (2002) (41)
- Identification of the first COG-CDG patient of Indian origin. (2011) (40)
- Phosphomannose Isomerase Inhibitors Improve N-Glycosylation in Selected Phosphomannomutase-deficient Fibroblasts* (2011) (40)
- Carboxylated Glycans Mediate Colitis through Activation of NF-κB1 (2005) (40)
- Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. (2018) (40)
- Glycans in Biotechnology and the Pharmaceutical Industry (2009) (40)
- New Disorders in Carbohydrate Metabolism: Congenital Disorders of Glycosylation and Their Impact on the Endocrine System (2003) (40)
- Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1. (1997) (40)
- Galectins -- Essentials of Glycobiology (2009) (39)
- Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. (2005) (38)
- Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases (2018) (37)
- A Novel Anionic Modification of N-Glycans on Mammalian Endothelial Cells Is Recognized by Activated Neutrophils and Modulates Acute Inflammatory Responses1 (2001) (37)
- Characterization and genetic mapping of modA. A mutation in the post-translational modification of the glycosidases of Dictyostelium discoideum. (1978) (36)
- The spectrum of incomplete N-linked oligosaccharides synthesized by endothelial cells in the presence of brefeldin A. (1992) (36)
- Lectin Affinity Chromatography (1995) (36)
- A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. (2016) (36)
- SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals (2019) (35)
- Biological Roles of Glycans -- Essentials of Glycobiology (2009) (35)
- RFT1 deficiency in three novel CDG patients (2009) (35)
- Identification of Intercellular Cell Adhesion Molecule 1 (ICAM-1) as a Hypoglycosylation Marker in Congenital Disorders of Glycosylation Cells* (2012) (34)
- trappc11 is required for protein glycosylation in zebrafish and humans (2016) (34)
- Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib (2008) (34)
- Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. (2000) (34)
- A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation (2012) (34)
- The mod A mutant of Dictyostelium discoideum is missing the alpha 1,3-glucosidase involved in asparagine-linked oligosaccharide processing. (1983) (33)
- Genetic Disorders of Glycan Degradation (2009) (33)
- Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology. (2005) (33)
- Carboxylated glycans mediate colitis through activation of NF-kappa B. (2005) (32)
- Overview of Glycoconjugate Analysis (2009) (32)
- N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response. (2014) (31)
- N-Glycanase 1 Transcriptionally Regulates Aquaporins Independent of Its Enzymatic Activity. (2019) (31)
- ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients (2016) (31)
- Applied glycoproteomics--approaches to study genetic-environmental collisions causing protein-losing enteropathy. (2006) (30)
- Congenital disorders of glycosylation and the pediatric liver. (2001) (30)
- Sulfated oligosaccharides block antibodies to many Dictyostelium discoideum acid hydrolases. (1984) (30)
- Identification of a Novel Glycosaminoglycan Core-like Molecule II (1995) (30)
- Other Classes of ER/Golgi-derived Glycans (2009) (30)
- Metabolically programmed quality control system for dolichol-linked oligosaccharides (2013) (29)
- Chemical analysis of stalk components of Dictostelium discoideum. (1978) (29)
- Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation (2013) (28)
- Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice (2014) (28)
- Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients (2019) (27)
- A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2 (2016) (27)
- A sensitive green fluorescent protein biomarker of N‐glycosylation site occupancy (2012) (27)
- Sulfated N-linked oligosaccharides affect secretion but are not essential for the transport, proteolytic processing, and sorting of lysosomal enzymes in Dictyostelium discoideum. (1990) (26)
- Mannose 6-sulfate is present in the N-linked oligosaccharides of lysosomal enzymes of Dictyostelium. (1985) (26)
- Endo-glycosidase F and peptide N-glycosidase F release the great majority of total cellular N-linked oligosaccharides: use in demonstrating that sulfated N-linked oligosaccharides are frequently found in cultured cells. (1986) (25)
- Identification of Two Novel Dictyostelium discoideum Cysteine Proteinases That Carry N-Acetylglucosamine-1-P Modification * (1995) (25)
- Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation‐Ic (2003) (25)
- A Novel Method to Co-localize Glycosaminoglycan-Core Oligosaccharide Glycosyltransferases in Rat Liver Golgi (1995) (25)
- Unusual Anionic N-Linked Oligosaccharides from Bovine Lung (*) (1995) (25)
- Golgi Acidification by NHE7 Regulates Cytosolic pH Homeostasis in Pancreatic Cancer Cells. (2020) (24)
- Purification and characterization of I-cell disease alpha-L-fucosidase. (1980) (24)
- Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency. (2018) (23)
- Deficiency of the Cog8 Subunit in Normal and CDG‐Derived Cells Impairs the Assembly of the COG and Golgi SNARE Complexes (2013) (23)
- MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect (2017) (23)
- The major glycosylation pathways of mammalian membranes. A summary. (1994) (23)
- SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features (2016) (22)
- Human glycosylation disorders and sugar supplement therapy. (1999) (22)
- Fucoseβ-1-P-Ser is a new type of glycosylation: using antibodies to identify a novel structure in Dictyostelium discoideum and study multiple types of fucosylation during growth and development (1998) (22)
- Clinical and biochemical characterization of a patient with congenital disorder of glycosylation (CDG) IIx. (2005) (21)
- Molecular cloning, gene organization, and expression of mouse Mpi encoding phosphomannose isomerase. (2002) (21)
- Two mutants of Dictyostelium discoideum that lack a sulfated carbohydrate antigenic determinant synthesize a truncated lipid-linked precursor of N-linked oligosaccharides. (1989) (21)
- Sulfated N-linked oligosaccharides in mammalian cells. II. Identification of glycosaminoglycan-like chains attached to complex-type glycans. (1988) (21)
- Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, SLC35A1 (2017) (21)
- Biochemical and genetic analysis of an antigenic determinant found on N-linked oligosaccharides in Dictyostelium. (1990) (21)
- Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. (2017) (21)
- Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features (2018) (20)
- The O-GlcNAc Modification -- Essentials of Glycobiology (2009) (20)
- Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). (2011) (20)
- C-type Lectins -- Essentials of Glycobiology (2009) (20)
- The role of the fibrillar component of the surface sheath in the morphogenesis of Dictyostelium discoideum. (1977) (20)
- Glycans in Glycoprotein Quality Control (2009) (20)
- Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions (2020) (20)
- Congenital disorder of glycosylation Ic in patients of Indian origin. (2003) (19)
- Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG (2016) (19)
- Interaction of Dictyostelium discoideum lysosomal enzymes with the mammalian phosphomannosyl receptor. The importance of oligosaccharides which contain phosphodiesters. (1985) (19)
- Glycosphingolipids -- Essentials of Glycobiology (2009) (18)
- Expanding the Molecular and Clinical Phenotype of SSR4‐CDG (2015) (18)
- Congenital disorders of glycosylation: Have you encountered them? (2000) (18)
- alpha-N-acetylgalactosamine-capping of chondroitin sulfate core region oligosaccharides primed on xylosides. (1998) (18)
- Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry. (2001) (18)
- Glycosylphosphatidylinositol Anchors -- Essentials of Glycobiology (2009) (18)
- Glycans in Development and Systemic Physiology (2009) (18)
- The Nuclear Overhauser Effect in the lead identification process. (2006) (18)
- Mannose Efflux from the Cells (2011) (18)
- Expanding the molecular and clinical phenotypes of FUT8‐CDG (2020) (17)
- A Dictyostelium discoideum mutant that missorts and oversecretes lysosomal enzyme precursors is defective in endocytosis (1989) (17)
- Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation (2018) (17)
- The relative contribution of mannose salvage pathways to glycosylation in PMI‐deficient mouse embryonic fibroblast cells (2008) (17)
- An IgG monoclonal antibody against Dictyostelium discoideum glycoproteins specifically recognizes Fucalpha1,6GlcNAcbeta in the core of N-linked glycans. Localized expression of core-fucosylated glycoconjugates in human tissues. (1997) (17)
- International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management (2020) (17)
- Biosynthesis of methylphosphomannosyl residues in the oligosaccharides of Dictyostelium discoideum glycoproteins. Evidence that the methyl group is derived from methionine. (1986) (17)
- Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation. (2018) (17)
- Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. (2013) (17)
- A novel pathway for phosphorylated oligosaccharide biosynthesis. Identification of an oligosaccharide-specific phosphate methyltransferase in dictyostelium discoideum. (1992) (16)
- Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib. (2003) (16)
- The cysteine proteinase gene cprG in Dictyostelium discoideum has a serine-rich domain that contains GlcNAc-1-P. (1997) (16)
- Intact Golgi synthesize complex branched O-linked chains on glycoside primers: Evidence for the functional continuity of seven glycosyltransferases and three sugar nucleotide transporters (2001) (16)
- Essentials of glycosylation. (2005) (16)
- Biosynthesis of GlcNAc-rich N- and O-glycans in the Golgi apparatus does not require the nucleotide sugar transporter SLC35A3 (2020) (16)
- Sweet solution (2002) (15)
- Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing (2019) (15)
- Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy (2020) (15)
- Therapeutic Monosaccharides: Looking back, moving forward. (2019) (15)
- Preparation and Analysis of Glycoconjugates (1993) (15)
- Biochemical and genetic analysis of the biosynthesis, sorting, and secretion of Dictyostelium lysosomal enzymes. (1990) (15)
- Chapter 5 – Dictyostelium discoideum glycoproteins: using a model system for organismic glycobiology (1997) (15)
- Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation. (2006) (15)
- A "glyconutrient sham". (2008) (14)
- Consequences of disrupting the gene that encodes alpha-glucosidase II in the N-linked oligosaccharide biosynthesis pathway of Dictyostelium discoideum. (1997) (14)
- Mutations in the translocon‐associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation (2019) (14)
- Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts. (2009) (14)
- Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. (2016) (14)
- Dissecting Functions of the Conserved Oligomeric Golgi Tethering Complex Using a Cell-Free Assay (2013) (14)
- Purification and characterization of altered cystic fibrosis liver α‐L‐fucosidase (1978) (14)
- Carbohydrate composition of human placental N-acetylhexosaminidase A and B. (1979) (14)
- A new approach to mapping co-localization of multiple glycosyl transferases in functional Golgi preparations. (1996) (14)
- Characteristics of the sulfation of N-linked oligosaccharides in vesicles from Dictyostelium discoideum: in vitro sulfation of lysosomal enzymes. (1989) (13)
- UDP-GlcNAc:Ser-ProteinN-Acetylglucosamine-1-Phosphotransferase fromDictyostelium discoideum Recognizes Serine-containing Peptides and Eukaryotic Cysteine Proteinases* (1997) (13)
- Enzymes involved in the synthesis of mannose-6-phosphate from glucose are normal in carbohydrate deficient glycoprotein syndrome fibroblasts. (1995) (13)
- Glycosylation Precursors -- Essentials of Glycobiology (2009) (13)
- New diagnosis and treatment of congenital hepatic fibrosis. (1999) (13)
- Microbial Carbohydrate-binding Proteins (1999) (12)
- Characterization, subcellular localization, and developmental regulation of a cysteine proteinase from Dictyostelium discoideum. (1995) (12)
- Structures Common to Different Types of Glycans (1999) (12)
- Human Postheparin Plasma Lipolytic Activities (1976) (12)
- Mucolipidosis III β-N-acetyl-d-hexosaminidase A. Purification and properties (1982) (12)
- Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides (1999) (12)
- Discovery and Classification of Glycan-Binding Proteins -- Essentials of Glycobiology (2009) (12)
- Sulfated N-linked oligosaccharides in mammalian cells. III. Characterization of a pancreatic carcinoma cell surface glycoprotein with N- and O-sulfate esters on asparagine-linked glycans. (1988) (12)
- Lectin Analysis of Proteins Blotted onto Filters (1993) (11)
- Mutations in NGLY 1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation ( ERAD ) Pathway (2014) (11)
- Identification of N-acetylglucosamine-alpha-1-phosphate transferase activity in Dictyostelium discoideum: an enzyme that initiates phosphoglycosylation. (1995) (11)
- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. (2018) (11)
- Characterization of Dictyostelium discoideum cathepsin D Molecular cloning , gene disruption , endo-lysosomal localization and sugar modifications (1999) (11)
- Novel carboxylated N-glycans contain oligosaccharide-linked glutamic acid. (2005) (11)
- Presence of a nonlysosomal endo-beta-N-acetylglucosaminidase in the cellular slime mold Dictyostelium discoideum. (1984) (11)
- ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA (2014) (10)
- Characterization and distribution of multiple antigens on N-linked oligosaccharides of Dictyostelium discoideum proteins. (1987) (10)
- Historical Background and Overview -- Essentials of Glycobiology (2009) (10)
- Intracranial Hemorrhage as the Initial Manifestation of a Congenital Disorder of Glycosylation (2006) (10)
- The effects of altered N-linked oligosaccharide structures on maturation and targeting of lysosomal enzymes in Dictyostelium discoideum. (1989) (10)
- Uptake of alpha-D-mannosidase and beta-D-glucosidase from Dictyostelium discoideum via the phosphohexosyl receptor on normal human fibroblasts. (1983) (9)
- Congenital nephrotic syndrome in an infant with ALG1‐congenital disorder of glycosylation (2016) (9)
- An IgG Monoclonal Antibody against Dictyostelium discoideum Glycoproteins Specifically Recognizes Fucα1,6GlcNAcβ in the Core of N-Linked Glycans (1997) (9)
- SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation (2010) (9)
- Chemical Tools for Inhibiting Glycosylation -- Essentials of Glycobiology (2009) (9)
- Viridiplantae -- Essentials of Glycobiology (2009) (9)
- Microbial Lectins: Hemagglutinins, Adhesins, and Toxins -- Essentials of Glycobiology (2009) (9)
- P0009 PP AN IN VITRO CELLULAR MODEL OF PROTEIN-LOSING ENTEROPATHY IMPLICATES HEPARAN SULFATE, INFLAMMATORY CYTOKINES, AND HYDROSTATIC PRESSURE AS CRITICAL PLAYERS (2004) (9)
- Hyaluronan -- Essentials of Glycobiology (2009) (9)
- Factor VIII and vWF deficiency in STT3A‐CDG (2019) (8)
- Human melanoma and Chinese hamster ovary cells galactosylate n-alkyl-β-glucosides using UDP gal:GlcNAc β1,4 galactosyltransferase (1996) (8)
- Characterization of mammalian UDP-GalNAc:glucuronide α1-4-N-acetylgalactosaminyltransferase (1999) (7)
- Aglycone structure influences α-fucosyltransferase III activity using N-acetyllactosamine glycoside acceptors (1999) (7)
- Use of Glycosidases to Study Protein Trafficking (1999) (7)
- A New Side of Xylosides and Their Close Relatives (1996) (7)
- Defining the clinical phenotype of Saul-Wilson syndrome. (2020) (7)
- Carbohydrate deficient glycoprotein syndrome type Ia. (2004) (7)
- Synthesis of β-GlcA-(1→3)-β-Gal and α-GalNAc-(1→4)-β-GleA-(1→3)-β-Gal as Biotinylated 2-Aminoethyl Glycoside and the Streptavidin Complex Formation (1999) (7)
- Evolutionary conservation of human ketodeoxynonulosonic acid production is independent of sialoglycan biosynthesis. (2020) (6)
- ALG11‐CDG syndrome: Expanding the phenotype (2019) (6)
- MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature (2020) (6)
- ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes (2021) (6)
- Glycobiology of Plant Cells (1999) (6)
- Bacterial and Viral Infections -- Essentials of Glycobiology (2009) (6)
- Communication: Synthesis of a Library of β-GlcNAc Glycosides to Screen for Efficient in Vivo Glycosyltransferase Acceptors (1999) (6)
- CDG or not CDG (2022) (6)
- Endoglycosidase and Glycoamidase Release of N‐Linked Glycans (2010) (5)
- A Genomic View of Glycobiology -- Essentials of Glycobiology (2009) (5)
- Modifications of lysosomal enzymes in Dictyostelium discoideum (1986) (5)
- Cell‐free N‐glycosylation in Dictyostelium discoideum: Analysis of wild‐type and mutants defective in lipid‐linked oligosaccharide biosynthesis (1990) (5)
- Mass spectrometry provides sweet inspiration (2003) (5)
- Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study (2021) (5)
- Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides (1999) (5)
- Genetic Disorders of Glycan Degradation -- Essentials of Glycobiology (2009) (5)
- Principles of Glycan Recognition -- Essentials of Glycobiology (2009) (5)
- Chemical Therapies for Congenital Disorders of Glycosylation. (2021) (5)
- Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. (2021) (5)
- The pathology of N-glycosylation--stay the middle, avoid the risks. (2001) (5)
- Glycans in Acquired Human Diseases -- Essentials of Glycobiology (2009) (5)
- Structural Analysis of Glycans -- Essentials of Glycobiology (2009) (5)
- Editorial [Hot Topic: Novel Perspectives on Glycosylation and Human Disease (Guest Editor: Hudson H. Freeze)] (2007) (4)
- Nematoda -- Essentials of Glycobiology (2009) (4)
- The Art of Science Communication—A Novel Approach to Science Communication Training † (2018) (4)
- Mod A: A post-translational mutation affecting phosphorylated and sulfated glycopeptides in Dictyostelium discoideum (1981) (4)
- Fucosebeta-1-P-Ser is a new type of glycosylation: using antibodies to identify a novel structure in Dictyostelium discoideum and study multiple types of fucosylation during growth and development. (1998) (4)
- Erratum: Genetic defects in the human glycome (2006) (4)
- A Mutation Map for Human Glycoside Hydrolase Genes. (2020) (4)
- A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction. (2021) (4)
- Other Classes of ER/Golgi-derived Glycans -- Essentials of Glycobiology (2009) (3)
- Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation. (2019) (3)
- Glycomics -- Essentials of Glycobiology (2009) (3)
- Endoglycosidase and Glycoamidase Release of N‐Linked Glycans (2008) (3)
- Fungi -- Essentials of Glycobiology (2009) (3)
- Synthesis of a Library of β‐GlcNAc Glycosides to Screen for Efficient in vivo Glycosyltransferase Acceptors. (1999) (3)
- Glycoproteins in Dictyostelium (1990) (3)
- Preparation and Analysis of Glycoconjugates (2009) (3)
- S100 Protein Family and Tumorigenesis (2012) (3)
- Impaired Glycosylation Due To Autosomal Recessive PGM3 Mutations Results In Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment (2014) (3)
- Glycans in Glycoprotein Quality Control -- Essentials of Glycobiology (2009) (3)
- MINI REVIEW Update and perspectives on congenital disorders of glycosylation (2001) (3)
- Carbohydrate composition of purified human liver α-L-Fucosidase (1977) (3)
- P0584 FOCAL LOSS OF DUODENAL ENTEROCYTE HEPARAN SULPHATE PROTEOGLYCANS MAY CONTRIBUTE TO PROTEIN-LOSING ENTEROPATHY AFTER FONTAN SURGERY (2004) (3)
- CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking (2022) (3)
- A Dominant Heterozygous Mutation in COG4 Causes Saul–Wilson Syndrome, a Primordial Dwarfism, and Disrupts Zebrafish Development via Wnt Signaling (2021) (3)
- Expanding the phenotype, genotype and biochemical knowledge of ALG3‐CDG (2021) (3)
- ALG1-CDG Caused by Non-functional Alternative Splicing Involving a Novel Pathogenic Complex Allele (2021) (2)
- A "Glyconutrient Sham" and the Jenner Glycobiology and Medicine Symposium. (2017) (2)
- Improving biochemical markers for disorders of N-glycosylation. (2019) (2)
- Arthropoda -- Essentials of Glycobiology (2009) (2)
- Novel insights into the fucose metabolism – challenging the old dogma (2020) (2)
- Glycan-binding Proteins (2009) (2)
- ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines (2022) (2)
- Parasitic Infections -- Essentials of Glycobiology (2009) (2)
- An immunological assessment of lysosomal enzymes and other macromolecules sulfated during vegetative growth of Dictyostelium discoideum (1988) (2)
- Corrigendum to: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up (Journal of Inherited Metabolic Disease, (2019), 42, 1, (5-28), 10.1002/jimd.12024) (2019) (2)
- Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment (2014) (2)
- Carbohydrate composition of purified human liver alpha-L-fucosidase. (1977) (2)
- Metabolic heritage mapping: heterogenous pools of cytoplasmic nucleotide sugars are selectively utilized by various glycosyltransferases (2021) (2)
- Introduction to Human Glycosylation Disorders (2010) (2)
- A congenital disorder of deglycosylation: Biochemical characterization of N -glycanase 1 de fi ciency in patient fi broblasts (2015) (2)
- Program and abstracts for the 2012 Joint Meeting of the Society for Glycobiology & American Society for Matrix Biology (2012) (2)
- Program and abstracts for the 2012 Joint Meeting of the Society for Glycobiology & American Society for Matrix Biology (2012) (2)
- Perhaps a wee bit of sugar would help (2016) (2)
- Glycans in Physiology and Disease (2009) (2)
- Novel perspectives on glycosylation and human disease. (2007) (2)
- Eubacteria and Archaea -- Essentials of Glycobiology (2009) (2)
- Targeted PCR-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation (CDG) (2)
- Release of Saccharides from Glycoconjugates (1994) (2)
- Glycomics, Glycobiology, and Glyco-Medicine (2013) (2)
- Special Considerations for Glycoproteins and Their Purification (1993) (2)
- Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis (2021) (2)
- A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1 , Phosphomannomutase 2 , and Phosphomannose Isomerase Deficiencies (2015) (2)
- PHOSPHOMANNOSE-ISOMERASE (PMI) DEFICIENCY, A NEW DEFECT IN THE SYNTHESIS OF GLYCOPROTEINS, MAINLY MANIFESTS AS GASTROINTESTINAL DISEASE, WHICH CAN BE SUCCESSFULLY TREATED BY ORAL MANNOSE. (1998) (1)
- Mutations in GET4 disrupt the transmembrane domain recognition complex pathway (2020) (1)
- Liver Involvement in Congenital Disorders of Glycosylation: A Systematic Review (2021) (1)
- Metabolism of Sugars and Sugar Nucleotides (2008) (1)
- XMEN: welcome to the glycosphere. (2019) (1)
- A single heterozygous mutation in COG4 disrupts zebrafish early development via Wnt signaling (2021) (1)
- Origin of cytoplasmic GDP-fucose determines its contribution to glycosylation reactions (2022) (1)
- Characterization of mammalian UDP-GalNAc:glucuronide alpha 1-4-N-acetylgalactosaminyltransferase. (1999) (1)
- Nucleocytoplasmic Glycosylation -- Essentials of Glycobiology (2009) (1)
- GLUT1 is a highly efficient L-fucose transporter (2022) (1)
- Achondrogenesis type 1A--from mouse to human. (2010) (1)
- Is X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy a congenital disorder of glycosylation? (2021) (1)
- Genetic Disorders of Glycosylation in Cultured Cells (1999) (1)
- Mucolipidosis III beta-N-acetyl-D-hexosaminidase A. Purification and properties. (1982) (1)
- Overview of glycoconjugate analysis. (2001) (1)
- Congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex (789.3) (2014) (1)
- Glycosylation Mutants of Cultured Cells -- Essentials of Glycobiology (2009) (1)
- An IgG Monoclonal Antibody against Dictyostelium discoideum Glycoproteins Specifically Recognizes Fuc a 1 , 6 GlcNAc b in the Core of N-Linked Glycans LOCALIZED EXPRESSION OF CORE-FUCOSYLATED GLYCOCONJUGATES (1997) (1)
- N-glycosylation de fi ciency reduces ICAM-1 induction and impairs in fl ammatory response (2014) (1)
- Beyond ERAD: N‐glycanase will bring you to tears (2018) (1)
- SLC2A11 (GLUT11) as mannose preferential transporter (607.15) (2014) (1)
- Purification and characterization of altered cystic fibrosis liver alpha-L-fucosidase. (1978) (1)
- Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation (2022) (1)
- Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association (2023) (1)
- Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement (2022) (1)
- Endoglycosidase and Glycoamidase Release of N‐Linked Oligosaccharides (2000) (1)
- Human melanoma and Chinese hamster ovary cells galactosylate n-alkyl-beta-glucosides using UDP gal:GlcNAc beta 1,4 galactosyltransferase. (1996) (1)
- SLC37A4-CDG: new biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy. (2021) (1)
- Free Glycans as Signaling Molecules -- Essentials of Glycobiology (2009) (1)
- Table 2, In vitro enzyme activity and cellular efficacy data (2010) (0)
- A recurrent homozygous missense DPM3 variant leads to muscle and brain disease (2022) (0)
- Therapeutic Inhibitors of Phosphomannose Isomerase - Probe 2 (2010) (0)
- TABLE 12.1, [Additional types of glycosylation in the ER/Golgi]. (2009) (0)
- B k through Activation of NF-Carboxylated Glycans Mediate Colitis (2005) (0)
- Mutations in GET4 disrupt the transmembrane domain recognition complex pathway (2020) (0)
- Dictyostelium discoideum: mutants in the biosynthesis of the lipid-linked precursor of N-linked oligosaccharides (1986) (0)
- CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME MAY INDUCE PROTEIN-LOSING ENTEROPATHY AND ENTEROCYTE HEPARAN SULFATE LOSS (1998) (0)
- Mannose Phosphate Isomerase (MPI) (2014) (0)
- Phosphomannomutase-deficient-Glycosylation in Selected N Improve Phosphomannose Isomerase Inhibitors Glycobiology and Extracellular Matrices : (2011) (0)
- Chemical and Enzymatic Synthesis of Glycans (1999) (0)
- 40 – Disorders of Glycosylation (2017) (0)
- Iconographies supplémentaires de l'article : Neurology of inherited glycosylation disorders (2012) (0)
- Meeting Report: 2011 Glycobiology Gordon Research Conference (2011) (0)
- Novel congenital disorders of glycosylation may underlie cryptogenic liver disease in children. (2002) (0)
- Metabolic clogging of mannose triggers genomic instability via dNTP loss in human cancer cells (2022) (0)
- Glycosylation, Congenital Disorders of (2013) (0)
- Corrigendum: ALG1-CDG Caused by Non-Functional Alternative Splicing Involving a Novel Pathogenic Complex Allele (2021) (0)
- Congenital Disorders of Glycosylation and Their Effects on the Liver (2010) (0)
- Figure 16.20, [Forssman antigen biosynthesis. Globoside serves...]. (1999) (0)
- Synthesis of β‐GlcA‐(1→3)‐β‐Gal and α‐GalNAc(1→4)‐β‐GlcA‐(1→3)‐β‐Gal as Biotinylated 2‐Aminoethyl Glycoside and the Streptavidin Complex Formation. (1999) (0)
- TABLE 41.2, [Defects in glycosaminoglycan degradation—the mucopolysaccharidoses]. (2009) (0)
- Downregulating FUK to Get Unstuck: Altered Fucosylation in Melanoma Promotes Tumor Development and Metastasis (2016) (0)
- Table 1, SAR Studies (2010) (0)
- Glycans in Genetic Disorders and Disease (1999) (0)
- Cover Image, Volume 179A, Number 3, March 2019 (2019) (0)
- The Swedish COG6‐CDG experience and a comprehensive literature review (2022) (0)
- Molecular Aspects of Hepatic Triglyceride Lipase and Lipoprotein Lipase from Human Post-Heparin Plasma (1977) (0)
- Faculty Opinions recommendation of The promise of protein glycosylation for personalised medicine. (2016) (0)
- Carbohydrate composition of purified serum glycoproteins in Mucolipidosis II and Mucolipidosis III (1978) (0)
- Loss of cell-associated heparan sulfate (HS) amplifies IFN{gamma}- and TNF{alpha}-induced protein leakage in a model of Protein-Losing Enteropathy (PLE) (2006) (0)
- Congenital Disorders of Glycosylation (CDG): Have you seen them? (2000) (0)
- The congenital disorders of glycosylation: A multifaceted group of syndromes (2006) (0)
- Missing N-Glycans on Some Proteins? What's the Problem? (1997) (0)
- Erratum: Carboxylated N‐glycans on RAGE promote S100A12 binding and signaling, in Journal of Cellular Biochemistry, by Srikrishna et al. (2010) (0)
- ALG8-CDG: new insights into an ultra-rare CDG (2021) (0)
- Faculty Opinions recommendation of Deglycosylation-dependent fluorescent proteins provide unique tools for the study of ER-associated degradation. (2013) (0)
- Faculty Opinions recommendation of A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes. (2012) (0)
- Analysis of Sulfate Esters by Solvolysis or Hydrolysis (1995) (0)
- Abstracts 30th Meeting of the European Metabolic Group (2005) (0)
- Glycosylation in “Model” Organisms (1999) (0)
- Intercellular adhesion molecule‐1 deficiency correlates with impaired inflammatory response in congenital disorder of glycosylation (607.2) (2014) (0)
- Books and Monograph Resources (2009) (0)
- Congenital Disorders of Glycosylation (2021) (0)
- Mannose Phosphate Isomerase (MPI) 139 (2014) (0)
- [Table], Table of Reagents and source used in experiments (2010) (0)
- Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature (2021) (0)
- Compléments : Neurology of inherited glycosylation disorders (2012) (0)
- O05: Fractionated plasma N-glycan analysis identifies sensitive diagnostic biomarkers for congenital disorders of glycosylation (CDG) (2023) (0)
- Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts. (2011) (0)
- Author response: MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect (2017) (0)
- Biochemical Characterization Of PMM2‐depleted Zebrafish Suggests An Unexpected Mechanism For Glycosylation Deficiency In CDG‐Ia (2012) (0)
- Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation (2023) (0)
- Phosphomannomutase 1,2 (PMM1,2) (2014) (0)
- DDOST‐CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype (2022) (0)
- Comparative proteomics reveals elevated CCN2 in NGLY1-deficient cells. (2022) (0)
- Figure 8.6, [Early and alternate pathways in...]. (1999) (0)
- Loss of cell‐associated heparan sulfate (HS) amplifies IFNγ‐ and TNFα‐induced protein leakage in a model of Protein‐Losing Enteropathy (PLE) (2006) (0)
- Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import (2018) (0)
- COG4 mutation in Saul-Wilson syndrome selectively affects secretion of proteins involved in chondrogenesis in chondrocyte-like cells (2022) (0)
- List of Contributors (2021) (0)
- P017Three patients with glycosylation deficiencies, chronically elevated transaminases, and low serum ceruloplasmin and copper, caused by mutations in the gene encoding the transmembrane protein TMEM199 (2017) (0)
- Erratum to “GLUT14, a duplicon of GLUT3, is specifically expressed in testis as alternative splice forms” (2003) (0)
- Defining the clinical phenotype of Saul–Wilson syndrome (2020) (0)
- Glycosylation in Human Disease: The Expanding Spectrum of Causes and Consequences (第20回バイオテクノロジーシンポジウム予稿集) -- (講演会の部) (2002) (0)
- Glyco-Forum section A “ Glyconutrient Sham ” (2008) (0)
- Disorders Affecting Glycosylation (2021) (0)
- Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation (2013) (0)
- Cysteine Proteinase-7 of Dictyostelium discoideum (2013) (0)
- Alter Glycolipid Synthesis in Human Melanoma and Chinese Hamster Ovary Cells * (2001) (0)
- P034 TMEM199-CDG: another glycosylation defect with mild hepatic dysfunction and no neurologic involvement (2018) (0)
- Figure 14.5, [Possible model for a role...]. (1999) (0)
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