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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

Author

Bo Lei

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Oct 2026

A novel NDUFS1 missense variant associated with optic atrophy and mitochondrial dysfunction.

This study identified two compound heterozygous variants in the NDUFS1 gene in a patient presenting with optic atrophy including the known variant c.64C>T p.(R22X) and a novel variant c.404G>A p.(G135D). The Ndufs1G135D/- mouse model exhibited reduced Ndufs1 expression, impaired optic nerve function and thinning of the...

Zhen-Hui Liu, Yu-Jie Jin, Yan Li et al. · 0 citations
#protein folding Open access Aug 2026

Activation of ER stress mediated by HspB4/Cryaa reduction contributes to photoreceptor apoptosis in rd9 mouse model of X-linked Retinitis Pigmentosa

Results identify Cryaa as a critical regulator of ER stress and demonstrate that its reduction promotes UPR activation and subsequent photoreceptor apoptosis in the rd9 model, revealing a key role for Cryaa in XLRP pathology and may provide a novel therapeutic perspective for this disease.

Ming-Zhu Yang, Rui-Qi Qiu, S. Yao et al. · 0 citations

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