title: Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.
abstract: The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a group of neurodegenerative disorders characterised by the accumulation of an autofluorescent lipopigment in many cell types. Different NCL types are distinguished according to age of onset, clinical phenotype, ultrastructural characterisation of the storage material, and chromosomal location of the disease gene. At least eight genes underlie the NCLs, of which four have been isolated and mutations characterised: CLN1, CLN2, CLN3, CLN5. 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.
authors.affiliation: Department of Paediatrics, Royal Free and University College Medical School, University College London, The Rayne Institute, London, United Kingdom. s.mole@ucl.ac.uk
authors.forename: S E
authors.initials: SE
authors.lastname: Mole
authors.forename: H M
authors.initials: HM
authors.lastname: Mitchison
authors.forename: P B
authors.initials: PB
authors.lastname: Munroe
mesh_terms: D000626:Aminopeptidases; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007425:Intracellular Membranes / Q000378:metabolism; D008062:Lipofuscin / Q000378:metabolism; D051907:Lysosomal Membrane Proteins; D008247:Lysosomes / Q000201:enzymology / Q000235:genetics / Q000378:metabolism; D008562:Membrane Glycoproteins; D008565:Membrane Proteins / Q000235:genetics*; D018832:Molecular Chaperones; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology* / Q000235:genetics; D010447:Peptide Hydrolases / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D057057:Serine Proteases; D013869:Thiolester Hydrolases / Q000235:genetics* / Q000378:metabolism; D000091346:Tripeptidyl-Peptidase 1
chemical_list: C105199:CLN3 protein, human; C113332:CLN5 protein, human; D008062:Lipofuscin; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins; D008565:Membrane Proteins; D018832:Molecular Chaperones; D011506:Proteins; D000091346:Tripeptidyl-Peptidase 1; D013869:Thiolester Hydrolases; C095299:palmitoyl-protein thioesterase; D010450:Endopeptidases; D010447:Peptide Hydrolases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human