Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy

The degeneration of retinal ganglion cells (RGC) due to mitochondrial dysfunctions manifests optic neuropathy. However, the molecular components of RGC linked to optic neuropathy manifestations remain largely unknown. Here, we identified a potentially novel optic atrophy-causative CRYAB gene encodin...

पूर्ण विवरण

ग्रंथसूची विवरण

मुख्य लेखकों:	Chenghui Wang, Liyao Zhang, Zhipeng Nie, Min Liang, Hanqing Liu, Qiuzi Yi, Chunyan Wang, Cheng Ai, Juanjuan Zhang, Yinglong Gao, Yanchun Ji, Min-Xin Guan
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	American Society for Clinical investigation 2025-01-01
श्रृंखला:	JCI Insight
विषय:	Genetics Ophthalmology
ऑनलाइन पहुंच:	https://doi.org/10.1172/jci.insight.182209
टैग:	टैग जोड़ें कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!