Open AccessMutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction
Author(s) -
Kimberlee P. Giffen,
Yi Li,
Huizhan Liu,
Xiaochang Zhao,
Chang-Jun Zhang,
RenJuan Shen,
Tianying Wang,
Amanda Janesick,
Bobei Chen,
Shusheng Gong,
Bechara Kachar,
ZiBing Jin,
David Z. Z. He
Publication year - 2022
Publication title -
science advances
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.928
H-Index - 146
ISSN - 2375-2548
DOI - 10.1126/sciadv.abk0942
Subject(s) - retinitis pigmentosa , autophagy , microbiology and biotechnology , lysosome , biology , retinal degeneration , mutation , hair cell , cochlea , auditory neuropathy , inner ear , hearing loss , genetics , neuroscience , gene , medicine , biochemistry , apoptosis , audiology , enzyme
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