Sara Mole
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British microbiologist and researcher
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Sara Molebiology Degrees
Biology
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Microbiology
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Molecular Biology
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Biology
Sara Mole's Degrees
- PhD Microbiology University of Oxford
- Masters Biotechnology Imperial College London
Why Is Sara Mole Influential?
(Suggest an Edit or Addition)According to Wikipedia, Sara Elizabeth Mole Crowley is a Professor of Molecular Cell Biology and Provost's Envoy for Gender Equality at University College London and the Great Ormond Street Hospital. She works on diseases caused by genetic changes, in particular neurodegenerative diseases that impact children.
Sara Mole'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
- Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A (1993) (1850)
- Neuronal ceroid lipofuscinoses. (2001) (453)
- Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. (2012) (414)
- The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8 (1999) (307)
- Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses (2012) (290)
- Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses (2005) (280)
- Genetics of the neuronal ceroid lipofuscinoses (Batten disease). (2015) (237)
- Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis (2012) (234)
- Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (2011) (191)
- The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. (2002) (188)
- New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses (2012) (182)
- Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6 (2006) (171)
- Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (1998) (142)
- Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6. (2011) (136)
- Genetic basis and phenotypic correlations of the neuronal ceroid lipofusinoses. (2013) (113)
- Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. (2009) (110)
- Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. (2013) (107)
- Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis (2019) (107)
- CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. (2004) (106)
- Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. (1993) (98)
- Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy (2004) (98)
- The Genetic Spectrum of Human Neuronal Ceroid‐lipofuscinoses (2004) (94)
- Molecular genetics of the NCLs -- status and perspectives. (2006) (89)
- A model for Batten disease protein CLN3: Functional implications from homology and mutations (1996) (82)
- Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis (1999) (81)
- btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis (2005) (81)
- The neuronal ceroid lipofuscinoses : batten disease (2015) (78)
- Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis (2003) (77)
- A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. (2007) (77)
- Neuronal ceroid lipofuscinoses. (2016) (75)
- Murine Cathepsin F Deficiency Causes Neuronal Lipofuscinosis and Late-Onset Neurological Disease (2006) (72)
- Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. (2016) (65)
- Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5 (1999) (63)
- Batten's disease: eight genes and still counting? (1999) (63)
- CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL (2010) (60)
- Mutations in MFSD8/CLN7 are a frequent cause of variant‐late infantile neuronal ceroid lipofuscinosis (2009) (57)
- A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset (2005) (56)
- Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses. (2011) (55)
- Neurodegenerative disease: the neuronal ceroid lipofuscinoses (Batten disease) (2001) (55)
- Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes. (1995) (54)
- Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8. (2001) (52)
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Ne (2011) (50)
- S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p (2009) (50)
- Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease (2011) (50)
- Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian Sibship (2008) (50)
- Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1 (2007) (49)
- Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6 (2007) (49)
- The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data (2008) (45)
- btn1 Affects Endocytosis, Polarization of Sterol-Rich Membrane Domains and Polarized Growth in Schizosaccharomyces pombe (2008) (45)
- Rapid diagnostic test for the major mutation underlying Batten disease. (1996) (45)
- Prenatal diagnosis of Batten's disease (1996) (43)
- Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. (2009) (40)
- Prevention of Photoreceptor Cell Loss in a Cln6nclf Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells. (2018) (38)
- Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation (2018) (37)
- Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease (2019) (37)
- Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems. (2006) (36)
- Neuronal ceroid lipofuscinoses. (1999) (36)
- btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH (2008) (35)
- Novel CLN3 mutation causing autophagic vacuolar myopathy (2014) (34)
- Batten Disease: Four Genes and Still Counting (1998) (33)
- New mutations in the neuronal ceroid lipofuscinosis genes. (2001) (32)
- Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses. (2020) (31)
- Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1 (2005) (31)
- Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology (2014) (31)
- Molecular Genetics of the Neuronal Ceroid Lipofuscinoses (1999) (30)
- Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene (2000) (28)
- Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) (2016) (25)
- The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? (2016) (25)
- Pathogenic mutations cause rapid degradation of lysosomal storage disease‐related membrane protein CLN6 (2010) (25)
- Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease. (2010) (23)
- Gene therapy targeting the inner retina rescues the retinal phenotype in a mouse model of CLN3 Batten disease. (2020) (23)
- Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). (1995) (22)
- Mutation of TBCK causes a rare recessive developmental disorder (2016) (20)
- Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features (2018) (20)
- NCLs and ER: A stressful relationship (2017) (20)
- Corrigendum: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits (Human Molecular Genetics (1998) 7 (291-297)) (1998) (20)
- CLN7 - Turkish variant late infantile NCL (1999) (19)
- The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3 (2009) (18)
- Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. (1998) (18)
- Involvement of the mitochondrial compartment in human NCL fibroblasts. (2011) (18)
- A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. (2009) (17)
- CLN4: adult NCL (1999) (16)
- A central role for TOR signalling in a yeast model for juvenile CLN3 disease (2015) (15)
- Gene Therapy Approaches to Treat the Neurodegeneration and Visual Failure in Neuronal Ceroid Lipofuscinoses. (2018) (15)
- CLN5 – Finnish variant late infantile NCL (1999) (15)
- The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses (2021) (15)
- Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder. (2015) (15)
- Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. (2019) (15)
- Neuronal ceroid lipofuscinoses (NCL). (2004) (14)
- Epitope Mapping of Antibodies Recognising the N-Terminal Domain of Simian Virus Large Tumour Antigen (1998) (14)
- Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. (1997) (14)
- Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world (2020) (13)
- Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype (2021) (13)
- Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research? (2020) (12)
- CLN6 disease caused by the same mutation originating in Pakistan has varying pathology (2013) (12)
- Strategy for mutation detection in CLN3: characterisation of two Finnish mutations. (1997) (11)
- Neuronal Ceroid Lipofuscinosis in Qatar: Report of a Novel Mutation in Ceroid-Lipofuscinosis, Neuronal 5 in the Arab Population (2011) (10)
- The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland. (1999) (10)
- Physical map of the region containing the gene for Batten disease (CLN3). (1995) (10)
- Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients (2020) (10)
- CLN8 disease caused by large genomic deletions (2016) (10)
- Genomic structure of three CLN3-like genes in Caenorhabditis elegans. (2001) (9)
- Experimental gene therapies for the NCLs. (2020) (9)
- Future perspectives: Moving towards NCL treatments. (2015) (8)
- Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses (2020) (8)
- Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis (2022) (7)
- Neuronal ceroid lipofuscinoses (NCL). (2006) (7)
- Animal models of NCL (1999) (6)
- Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease (2019) (5)
- Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2 (2006) (5)
- Analysis of candidate genes in the CLN6 critical region using in silico cloning. (2001) (5)
- NIACIN DEFICIENCY (1952) (5)
- Safe and stable generation of induced pluripotent stem cells using doggybone DNA vectors (2021) (4)
- Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease (2021) (4)
- P89 – 2878: Neuronal ceroid lipofuscinosis-2 (CLN2) natural history and path to diagnosis: International experts' current experience and recommendations on CLN2 disease, a type of Batten disease, resulting from TPP1 enzyme deficiency (2015) (4)
- Genetics and development (1998) (4)
- Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses (1996) (4)
- Analysis of CLN3-protein interactions using the yeast two-hybrid system. (2001) (4)
- Phenol sulfotransferases: candidate genes for Batten disease. (1995) (4)
- Molecular basis of CLN2 disease: A review and classification of TPP1 gene variants reported worldwide (2018) (3)
- Special issue: molecular basis of the NCLs. (2013) (3)
- Development of new treatments for Batten disease (2014) (3)
- Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment (2022) (3)
- Gene table: neuronal ceroid lipofuscinoses. (2002) (3)
- Special issue: Molecular basis of NCL. (2006) (2)
- Analysis of Batten disease candidate genes STP and STM. (1995) (2)
- Gene table: neuronal ceroid lipofuscinoses (NCL). (1997) (2)
- New mutations genes in the neuronal ceroid lipofuscinosis (2001) (1)
- Molecular genetic analysis of neuronal ceroid lipofuscinosis. (1991) (1)
- Mutations in CLN1, CLN2, CLN3 and CLN5 (1999) (1)
- Genetic analysis of adult onset neuronal ceroid lipofuscinosis (Kufs' disease) (1998) (1)
- The NCLs: Evolution of the Concept and Classification (2011) (1)
- Sex bias and omission exists in Batten disease research: Systematic review of the use of animal disease models. (2022) (1)
- Methodology to develop guidelines for the management of patients with neuronal ceroid lipofuscinosis type 2 disease (2019) (1)
- Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. (2021) (1)
- The value of a comprehensive natural history in late infantile CLN5 disease (2017) (1)
- Workshop on the genetic and molecular basis of the neuronal ceroid lipofuscinoses. London, UK, 13-16 November 1997. Report and abstracts. (1998) (1)
- IDENTIFICATION OF POTENTIAL BIOMARKERS AND MODIFIERS OF CLN3 DISEASE (2010) (1)
- Neuronal ceroid lipofuscinosis: A novel gene (CLN8) is mutated in human progressive epilepsy with mental retardation and the motor neuron degeneration mouse model. (1999) (1)
- The neuronal ceroid-lipofuscinoses (Batten disease) (2020) (0)
- Structural requirements for dimerization and ER-retention of the polytopic membrane protein CLN6, defective in variant late infantile neuronal ceroid lipofucinosis (2006) (0)
- The 8th International Congress on Neuronal CeroidLipofuscinoses (Batten Disease) (2001) (0)
- Characterization of neuronal ceroid lipofuscinosis in Argentina (2007) (0)
- BATCure, Developing new therapies for Batten disease, Horizon2020 (2017) (0)
- Retinal degeneration in Cln6nclf mice, a model for vision loss in transmembrane neuronal ceroid lipofuscinoses (NCL), amenable to AAV mediated gene therapy targeting the inner and outer retina (2015) (0)
- Table 1. [NCL Phenotypes and Their Known Associated Genes]. (2013) (0)
- Prenatal Diagnosis of Disorders of Lipid Metabolism (2015) (0)
- Proteomic analysis of urine reveals potential markers for CLN2 Batten disease (2016) (0)
- underlying Batten disease . Rapid diagnostic test for the major mutation (0)
- Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis (2016) (0)
- Special edition: The NCLs/batten disease. (2020) (0)
- Developing new therapies for neuronal ceroid lipofuscinoses or Batten disease (2018) (0)
- Rapiddiagnostic testforthemajormutation underlying Batten disease (1996) (0)
- Epitope mapping (1994) (0)
- CLN7 mutation causes aberrant redistribution of protein isoforms and contributes to Batten disease pathobiology (2022) (0)
- Paper AlertGenetics and development (2001) (0)
- A homogeneous PCR method for rapid detection of the most common mutations in the neuronal ceroid lipofuscinosis genes CLN1 and CLN2. (2005) (0)
- Table 7. [TPP1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Mice with a targeted disruption of the Batten disease gene (CLN3) display a progressive storage disorder (1998) (0)
- Deep phenotyping proteomics analysis of CSF from CLN2 patients undergoing enzyme replacement therapy (2020) (0)
- Table 10. [CLN6 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Distinctive muscle pathology in patients with mutations in the Cathepsin D gene (2014) (0)
- Table 4. [Diagnostic Algorithm for NCL Diseases]. (2013) (0)
- Table 9. [CLN5 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Physical and transcript mapping of the CLN6 critcal region on chromosome 15q22-23. (1999) (0)
- Table 6. [PPT1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- List of contributors (2020) (0)
- Table 11. [MFSD8 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Kuf's disease: request for patients and families (1995) (0)
- Reply to Comment on “Deletion of btn1, an orthologue of CLN3, increases glycolysis and perturbs amino acid metabolism in the fission yeast model of Batten disease” (2011) (0)
- UseofSimian Virus 40LargeT-f-Galactosidase Fusion Proteins in anImmunochemical Analysis ofSimian Virus 40LargeTAntigen (1985) (0)
- Toward the identification of the gene for Batten disease (CLN3) in 16p12 by physical mapping and analysis of candidate genes (1994) (0)
- Table 12. [CLN8 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Small animal models of NCL (2011) (0)
- The Turkish variant neuronal ceroid lipofuscinosis gene may be allelic to CLN8 (2000) (0)
- Neuronal ceroid lipofusinoses (2015) (0)
- A 30-year follow-up of a patient with mutations in CLN3 and protracted disease course (2009) (0)
- Author Correction: Global network analysis in Schizosaccharomycespombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease (2021) (0)
- The fission yeast Schizosaccharomyces pombe and the nematode worm Caenorhabditis elegans as model systems for studying the basic biology of CLN1 and CLN3 (2004) (0)
- Table 2. [Electron Microscopic Findings and Enzyme Activity by NCL Genotype]. (2013) (0)
- Analysis of candidate genes in the CLN6 using in silico cloning critical region (2001) (0)
- The neuronal ceroid-lipofuscinoses: Evolution of the concept and classification (2011) (0)
- Homozygosity mapping of a new variant late infantile NCL (Turkish variant, CLN7) (1999) (0)
- Table 3. [Summary of Molecular Genetic Testing Used in NCL]. (2013) (0)
- Mutations in NCL genes (2011) (0)
- A Mutation In Mfsd8 Causes Neuronal Ceroid Lipofuscinoses In Chihuahua Dogs (2015) (0)
- Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis (2022) (0)
- Table 8. [CLN3 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Neuronal ceroid lipofuscinoses (NCL) ARTICLE IN PRESS (2006) (0)
- Molecular genetics and biology of CLN6 (2004) (0)
- Small Animal Models (2011) (0)
- Full-field ERG in patients with Spielmeyer-Vogt/Batten disease caused by mutations in the CLN3 gene (1999) (0)
- Mitochondrial ROS contribute to neuronal ceroid lipofuscinosis pathogenesis (2021) (0)
- Retinal phenotype in Cln6nclf mice, a mouse model of neuronal ceroid lipofuscinoses, amenable to AAV mediated gene therapy (2014) (0)
- Morphologically targeted DNA screening of neuronal ceroid lipofuscinoses CLN5 and CLN6 in Argentina (2008) (0)
- Analysis of CLN3-protein two-hybrid system interactions using the yeast (2001) (0)
- Paper alert. Genetics and development. (2001) (0)
- Mitochondrial collapse links PFKFB3-promoted glycolysis with CLN7/MFSD8 neuronal ceroid lipofuscinosis pathogenesis (2020) (0)
- Table 5. [Former NCL Nomenclature]. (2013) (0)
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Sara Mole is affiliated with the following schools:
