Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes
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چکیده
منابع مشابه
Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
Mutations in Vps33 isoforms cause pigment dilution in mice (Vps33a, buff) and Drosophila (car) and the neurogenic arthrogryposis, renal dysfunction and cholestasis syndrome in humans (ARC1, VPS33B). The later disease is also caused by mutations in VIPAS39, (Vps33b interacting protein, apical-basolateral polarity regulator, SPE-39 homolog; ARC2), a protein that interacts with the HOmotypic fusio...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2013
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddt378