Tripeptidyl-peptidase I in neuronal ceroid lipofuscinoses and other lysosomal storage disorders

European Journal of Paediatric Neurology

Volumn 5, Issue SUPPL. A, 2001, Pages 73-79

  Wisniewski, K E ^a   Kida, E ^a   Walus, M ^a   Wujek, P ^a   Kaczmarski, W ^a   Golabek, A A ^a  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

CLN2 TPP I; Lysosomal storage disorders; Mutations

Indexed keywords

AMINOPEPTIDASE; CLN 1 PROTEIN; CLN 2 PROTEIN; CLN 3 PROTEIN; LYSOSOME ENZYME; OLIGOPEPTIDE; PEPTIDASE; TRIPEPTIDE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

AMINO TERMINAL SEQUENCE; ARTICLE; BRAIN TISSUE; CELL DAMAGE; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION FUNCTION; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; DNA POLYMORPHISM; ENZYME ACTIVITY; ENZYME ASSAY; FIBROBLAST; FRACTIONATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GLIA CELL; GM1 GANGLIOSIDOSIS; GM2 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; LYSOSOME STORAGE DISEASE; MACROPHAGE; MISSENSE MUTATION; MOLECULAR GENETICS; MUCOPOLYSACCHARIDOSIS; NERVE CELL; NEURONAL CEROID LIPOFUSCINOSIS; PATHOLOGY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; STAINING; TISSUE INJURY; TURNOVER TIME; WESTERN BLOTTING;

EID: 0034924518     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2000.0439     Document Type: Article

References (20)

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5. Re-evaluation of neuronal ceroid lipofuscinoses: A typical juvenile onset may be the result of CLN2 mutations
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9. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis
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11. Partial purification and characterization of an ovarian tripeptidyl peptidase: A lysosomal exopeptidase that sequentially releases collagen-related (Gly-Pro-X) triplets
12. Different pattern of hydrophobic protein storage in different forms of neuronal ceroid lipofuscinosis (NCL, Batten disease)
13. Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis
14. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I
15. Tripeptidyl-peptidase I deficiency in classical late-infantile neuronal ceroid lipofuscinosis brain tissue. Evidence for defective peptidase rather than proteinase activity
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18. Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications
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20. Light and electron microscopic studies on subunit c in cultured fibroblasts in late infantile and juvenile Batten disease