Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in asian sibship

Human Mutation

Volumn 30, Issue 5, 2009, Pages

  Lebrun, Anne Helene ^a   Storch, Stephan ^a   Ruschendorf, Franz ^b   Schmiedt, Mia Lisa ^c   Kyttala, Aija ^c   Mole, Sara E ^d,e   Kitzmuller, Claudia ^d   Saar, Kathrin ^b   Mewasingh, Leena D ^f   Boda, Volker ^g   Kohlschutter, Alfried ^a   Ullrich, Kurt ^a   Braulke, Thomas ^a   Schulz, Angela ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b Gene Mapping Center   (Germany)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f IMPERIAL COLLEGE HEALTHCARE NHS TRUST   (United Kingdom)

^g UNIVERSITY HOSPITAL FRANKFURT   (Germany)

Author keywords

Asian ncl variant; CLN5; Er retention; Lysosomal storage disorder; Neuronal ceroid lipofuscinosis

Indexed keywords

CELL PROTEIN; PROTEIN CLN5; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELLULAR DISTRIBUTION; CLN1 GENE; CLN10 GENE; CLN2 GENE; CLN3 GENE; CLN6 GENE; CLN8 GENE; CONTROLLED STUDY; DEGENERATIVE DISEASE; ENDOPLASMIC RETICULUM; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GLYCOSYLATION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE MICROSCOPY; LYSOSOME; MALE; NEURONAL CEROID LIPOFUSCINOSIS; NONHUMAN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THALASSEMIA MAJOR; WILD TYPE;

ADOLESCENT; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CELL LINE; CHILD; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; ENDOPLASMIC RETICULUM; FATAL OUTCOME; FEMALE; HUMANS; INTRACELLULAR SPACE; MALE; MEMBRANE PROTEINS; MUTANT PROTEINS; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PAKISTAN; PROTEIN TRANSPORT; PROTEINS; SIBLINGS;

EID: 66749094183     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21010     Document Type: Article

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