A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway

Human Mutation

Volumn 32, Issue 11, 2011, Pages 1246-1258

  Waite, Adrian ^a,b   De Rosa, Maria Cristina ^c   Brancaccio, Andrea ^c   Blake, Derek J ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c CATHOLIC UNIVERSITY   (Italy)

Author keywords

Dystonia; Ectodomain cleavage; Glycosylation; Lysosome; Mutant; Sarcoglycan

Indexed keywords

COMPLEMENTARY DNA; EPSILON SARCOGLYCAN;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GAIN OF GLYCOSYLATION MUTATION; GENE; GENE MUTATION; GLYCOSYLATION; HUMAN; HUMAN CELL; LYSOSOME; MISSENSE MUTATION; MYOCLONUS DYSTONIA; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN TARGETING; SGCE GENE;

ANIMALS; DYSTONIC DISORDERS; GLYCOSYLATION; HEK293 CELLS; HUMANS; LYSOSOMES; MICE; MUTATION, MISSENSE; PROTEIN TRANSPORT; PROTEOLYSIS; RATS; SARCOGLYCANS; SECRETORY PATHWAY;

MURINAE;

EID: 80054687314     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21561     Document Type: Article

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