Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models

Journal of Neurochemistry

Volumn 73, Issue 2, 1999, Pages 700-711

  Sohar, Istvan ^a   Sleat, David E ^a   Jadot, Michel ^b   Lobel, Peter ^a  

^a RUTGERS UNIVERSITY   (United States)

^b UNIVERSITY OF NAMUR   (Belgium)

Author keywords

Batten disease; Enzyme based diagnosis; Lysosomal storage disease; Neuronal ceroid lipofuscinosis; Proteinosis

Indexed keywords

GENE PRODUCT; LYSOSOME ENZYME; MANNOSE 6 PHOSPHATE; PROTEINASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL FRACTIONATION; CONTROLLED STUDY; DEGENERATIVE DISEASE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME ASSAY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LYSOSOME STORAGE DISEASE; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PRIORITY JOURNAL;

AGE OF ONSET; ANIMALS; ASPARTIC ENDOPEPTIDASES; BLOOD PLATELETS; BRAIN; CATTLE; CELL LINE; CHORIONIC VILLI; DISEASE MODELS, ANIMAL; DOGS; ENDOPEPTIDASES; ENZYME TESTS; FIBROBLASTS; HUMANS; HYDROGEN-ION CONCENTRATION; LYMPHOCYTES; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MICE; MICE, NEUROLOGIC MUTANTS; NEURONAL CEROID-LIPOFUSCINOSES; PEPTIDE HYDROLASES; SHEEP; SUBCELLULAR FRACTIONS; SUBSTRATE SPECIFICITY; TISSUE BANKS;

ANIMALIA; BOS TAURUS; CANIS FAMILIARIS; OVIS ARIES; PROKARYOTA;

EID: 0032778867     PISSN: 00223042     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1471-4159.1999.0730700.x     Document Type: Article

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