Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6

Human Mutation

Volumn 31, Issue 2, 2010, Pages

  Kurze, Anna Katherina ^a   Galliciotti, Giovanna ^a   Heine, Claudia ^a   Mole, Sara E ^b,c   Quitsch, Arne ^a   Braulke, Thomas ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

CLN6; Lysosomal storage disorder; Neuronal ceroid lipofuscinosis; Proteasomal degradation

Indexed keywords

MEMBRANE PROTEIN; MEMBRANE PROTEIN CLN6; PROTEINASE INHIBITOR; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CYTOPLASM; DIMERIZATION; ENDOPLASMIC RETICULUM; GENE EXPRESSION; GENE MUTATION; HUMAN; LYSOSOME STORAGE DISEASE; MOUSE; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PREDICTION; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DEGRADATION; PROTEIN STABILITY; PROTEIN SYNTHESIS;

ACETYLCYSTEINE; CELL LINE; ENDOPLASMIC RETICULUM; HALF-LIFE; HUMANS; INTRACELLULAR SPACE; LYSOSOMAL STORAGE DISEASES; MEMBRANE PROTEINS; MUTANT PROTEINS; MUTATION; PROTEASOME ENDOPEPTIDASE COMPLEX; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN TRANSPORT;

MURINAE;

EID: 75149115135     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21184     Document Type: Article

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