Sara Mole

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology and Department of Paediatrics and Child Health, University College London, Gower Street, London, WC1E 6BT, UK
    Neurogenetics 6:107-26. 2005
  2. ncbi request reprint 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"
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, WC1E 6BT, UK
    Mol Biosyst 7:1349. 2011
  3. doi request reprint New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
    Ruth E Williams
    MRC Laboratory for Molecular Cell Biology, Department of Molecular Medicine, UCL Institute of Child Health, University College London, UK
    Neurology 79:183-91. 2012
  4. ncbi request reprint Neuronal ceroid lipofuscinoses (NCL)
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK
    Eur J Paediatr Neurol 10:255-7. 2006
  5. ncbi request reprint Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5
    S E Mole
    Department of Paediatrics, Royal Free and University College Medical School, University College London, The Rayne Institute, London, United Kingdom
    Hum Mutat 14:199-215. 1999
  6. ncbi request reprint CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
    Sara E Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK
    Exp Cell Res 298:399-406. 2004
  7. ncbi request reprint Neuronal ceroid lipofuscinoses (NCL)
    Sara Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, Gower Street Campus, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Eur J Paediatr Neurol 8:101-3. 2004
  8. ncbi request reprint Gene table: neuronal ceroid lipofuscinoses
    Sara Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, The Rayne Institute, London, UK
    Eur J Paediatr Neurol 6:129-30. 2002
  9. ncbi request reprint The genetic spectrum of human neuronal ceroid-lipofuscinoses
    Sara E Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College, London, United Kingdom
    Brain Pathol 14:70-6. 2004
  10. ncbi request reprint New mutations in the neuronal ceroid lipofuscinosis genes
    S E Mole
    Department of Paediatrics and Child Health, University College London, Rayne Institute, 5 University Street, London WC1E 6JJ, UK
    Eur J Paediatr Neurol 5:7-10. 2001

Collaborators

Detail Information

Publications26

  1. ncbi request reprint Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology and Department of Paediatrics and Child Health, University College London, Gower Street, London, WC1E 6BT, UK
    Neurogenetics 6:107-26. 2005
    ..This review attempts to correlate the gene, disease-causing mutation, morphology and clinical phenotype for each type of NCL...
  2. ncbi request reprint 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"
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, WC1E 6BT, UK
    Mol Biosyst 7:1349. 2011
    ..We respond briefly to the letter received from Pearce and Padilla-Lopez...
  3. doi request reprint New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
    Ruth E Williams
    MRC Laboratory for Molecular Cell Biology, Department of Molecular Medicine, UCL Institute of Child Health, University College London, UK
    Neurology 79:183-91. 2012
    ....
  4. ncbi request reprint Neuronal ceroid lipofuscinoses (NCL)
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, UK
    Eur J Paediatr Neurol 10:255-7. 2006
  5. ncbi request reprint Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5
    S E Mole
    Department of Paediatrics, Royal Free and University College Medical School, University College London, The Rayne Institute, London, United Kingdom
    Hum Mutat 14:199-215. 1999
    ..Two of these genes encode lysosomal enzymes, and two encode transmembrane proteins, at least one of which is likely to be in the lysosomal membrane. The basic defect in the NCLs appears to be associated with lysosomal function...
  6. ncbi request reprint CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
    Sara E Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London WC1E 6JJ, UK
    Exp Cell Res 298:399-406. 2004
    ..These data suggest that CLN6 is an ER resident protein, the activity of which, despite this location, must contribute to lysosomal function...
  7. ncbi request reprint Neuronal ceroid lipofuscinoses (NCL)
    Sara Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, Gower Street Campus, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Eur J Paediatr Neurol 8:101-3. 2004
  8. ncbi request reprint Gene table: neuronal ceroid lipofuscinoses
    Sara Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, The Rayne Institute, London, UK
    Eur J Paediatr Neurol 6:129-30. 2002
  9. ncbi request reprint The genetic spectrum of human neuronal ceroid-lipofuscinoses
    Sara E Mole
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College, London, United Kingdom
    Brain Pathol 14:70-6. 2004
    ..At least seven common mutations exist, either with a world-wide distribution or associated with families from specific countries. All mutations are described in the NCL Mutation Database (http://www.uc.ac.uk/ncl)...
  10. ncbi request reprint New mutations in the neuronal ceroid lipofuscinosis genes
    S E Mole
    Department of Paediatrics and Child Health, University College London, Rayne Institute, 5 University Street, London WC1E 6JJ, UK
    Eur J Paediatr Neurol 5:7-10. 2001
    ..Two mutations have been described in animal genes (cln8/mnd, CTSD). All mutations in NCL genes are contained in the NCL Mutation Database (http://www.ucl.ac.uk/NCL)...
  11. pmc S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p
    Sandra Codlin
    MRC Laboratory for Molecular Cell Biology, University College London, London WC1E 6BT, UK
    J Cell Sci 122:1163-73. 2009
    ..Together, these results indicate an important role for Btn1p in the Golgi complex, which affects Golgi homeostasis and vacuole protein sorting. We propose a similar role for CLN3 in mammalian cells...
  12. pmc The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
    Ruth B Wheeler
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, United Kingdom
    Am J Hum Genet 70:537-42. 2002
    ..One vLINCL mutation, affecting a conserved amino acid residue within the predicted third hydrophilic loop of the protein, has been identified, suggesting that this domain may play an important functional role...
  13. ncbi request reprint Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis
    Julie D Sharp
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, UK
    Hum Mutat 22:35-42. 2003
    ..All mutations are recorded in the NCL Mutation Database together with their country of origin for use in the development of rapid screening assays to confirm diagnosis and to facilitate carrier testing appropriate to a population...
  14. ncbi request reprint A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis
    Claudia Kitzmuller
    MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, University College London, UK
    Hum Mol Genet 17:303-12. 2008
    ..This finding has important consequences for recognition and diagnosis of disease caused by mutations in CLN3 and for the development of therapy for JNCL...
  15. doi request reprint The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data
    Timothy Nugent
    Bioinformatics Group, Department of Computer Science, University College London, United Kingdom
    FEBS Lett 582:1019-24. 2008
    ..Surprisingly, varied topological predictions were made using different subsets of orthologous sequences, highlighting the challenges still remaining for bioinformatics...
  16. ncbi request reprint btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis
    Yannick Gachet
    Department of Biology, University College London, Gower Street, London, WC1E 6BT, UK
    J Cell Sci 118:5525-36. 2005
    ....
  17. pmc The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3
    Rebecca L Haines
    MRC Laboratory for Molecular Cell Biology, UCL Institute of Child Health, University College London, Gower Street, London, UK
    Dis Model Mech 2:84-92. 2009
    ..The ability to predict disease phenotypes in S. pombe confirms this yeast as an invaluable tool to understanding Batten disease...
  18. pmc btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe
    Sandra Codlin
    MRC Laboratory for Molecular Cell Biology, University College London, WC1E 6BT London, UK
    Traffic 9:936-50. 2008
    ..Consistent with a role for Btn1p in polarized growth, Btn1p has an altered location at 37 degrees C and is retained in actin-dependent endomembrane structures near the cell poles or septum...
  19. ncbi request reprint Identification and characterization of Caenorhabditis elegans palmitoyl protein thioesterase1
    Morwenna Y Porter
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, United Kingdom
    J Neurosci Res 79:836-48. 2005
    ..This strain, deleted for ppt-1, potentially provides a model system for the study of PPT1 and the pathogenesis of INCL...
  20. doi request reprint Btn1 affects cytokinesis and cell-wall deposition by independent mechanisms, one of which is linked to dysregulation of vacuole pH
    Sandra Codlin
    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT
    J Cell Sci 121:2860-70. 2008
    ..Thus, Btn1p impacts two independent processes, which suggests that Batten disease is more than a pH-related lysosome disorder...
  21. ncbi request reprint Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6
    Claudia Heine
    Department of Biochemistry, University Hospital Hamburg Eppendorf, Children s Hospital, Hamburg, Germany
    Mol Membr Biol 24:74-87. 2007
    ..Additionally, the ability of CLN6 to homodimerize may also prevent exit from the ER via an interaction with membrane-associated factors...
  22. ncbi request reprint 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
    Adam R Leman
    Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Ave, Box 626, Rochester, NY 14642, USA
    J Neurosci Methods 157:124-31. 2006
    ..This new assay, combined with a test for the common 1 kbp deletion in the CLN3 gene, provides a set of DNA-based assays suitable for detection of the most common mutations causing NCL with onset in the juvenile age range...
  23. pmc Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6
    Mallorie Poet
    Zentrum für Molekulare Neurobiologie, Universitat Hamburg, Falkenried 94, D 20246 Hamburg, Germany
    Proc Natl Acad Sci U S A 103:13854-9. 2006
    ..CLCN6 is a candidate gene for mild forms of human NCL. Analysis of 75 NCL patients identified ClC-6 amino acid exchanges in two patients but failed to prove a causative role of CLCN6 in that disease...
  24. pmc Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease
    Chi Hui Tang
    Department of Medicine, and the Cardiovascular Research Institute, University of California, San Francisco, Box 0111, San Francisco, CA 94143, USA
    Mol Cell Biol 26:2309-16. 2006
    ..cat F is the only cysteine cathepsin whose inactivation alone causes a lysosomal storage defect and progressive neurological features in mice. The late onset suggests that this gene may be a candidate for adult-onset NCL...
  25. ncbi request reprint Molecular genetics of the NCLs -- status and perspectives
    Eija Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland
    Biochim Biophys Acta 1762:857-64. 2006
    ..Additional clues to the identification of these unknown genes may come from animal models of NCL and from functional studies of already known genes which may suggest further candidates...
  26. ncbi request reprint Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
    Susanna Ranta
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Hum Mutat 23:300-5. 2004
    ..The molecular genetic background of the Turkish vLINCL families not linked to CLN8 remains to be clarified...