Article
Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction.
Science advances - 8 Apr 2022
Giffen Kimberlee P, Li Yi, Liu Huizhan, Zhao Xiao-Chang, Zhang Chang-Jun, Shen Ren-Juan, Wang Tianying, Janesick Amanda, Chen Bo-Bei, Gong Shu-Sheng, Kachar Bechara, Jin Zi-Bing, He David Z
Abstract excerpt
Lysosomes contribute to cellular homeostasis via processes including macromolecule degradation, nutrient sensing, and autophagy. Defective proteins related to lysosomal macromolecule catabolism are known to cause a range of lysosomal storage diseases; however, it is unclear whether mutations in proteins involved in homeostatic nutrient sensing mechanisms cause syndromic sensory disease. Here, we show that...
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