Morphological studies on CLN2

European Journal of Paediatric Neurology

Volumn 5, Issue SUPPL. A, 2001, Pages 203-207

  Goebel, H H ^a   Kominami, E ^a   Neuen Jacob, E ^a   Wheeler, R B ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

Chloroquine myopathy; CLN2; Immunohistochemistry; Mutation; Neuronal ceroid lipofuscinoses; Tripeptidyl peptidase I

Indexed keywords

CHLOROQUINE; CLN 2 PROTEIN; GENE PRODUCT; LYSOSOME ENZYME; MITOCHONDRIAL ENZYME; PEPTIDASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

ARTICLE; BIOACCUMULATION; BIOCHEMISTRY; BRAIN DISEASE; BRAIN TISSUE; CELL TYPE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DRUG TOXICITY; ELECTRON MICROSCOPY; ENZYME DEFECT; ENZYME SUBUNIT; FEMALE; FLUORESCENCE MICROSCOPY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; LYSOSOME STORAGE DISEASE; MALE; MODEL; MOLECULAR GENETICS; MORPHOLOGY; MYOPATHY; NERVE CELL; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; PATHOLOGY; PRIORITY JOURNAL; RETINOPATHY; ULTRASTRUCTURE; VALIDATION PROCESS;

EID: 0034918908     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2000.0463     Document Type: Article

References (14)

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9. A lysosomal proteinase, the late infantile neuronal ceroid lipofuscinosis gene (CLN2) product, is essential for degradation of a hydrophobic protein, the subunit c of ATP synthase
10. Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis
11. On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis
12. Decreased lysosomal subunit c-degrading activity in fibroblasts from patients with late infantile neuronal ceroid-lipofuscinosis
13. Mutational analysis of the defective proteinase in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder
14. Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I