Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction

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 prot...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2022
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993119/
https://www.ncbi.nlm.nih.gov/pubmed/35394837
http://dx.doi.org/10.1126/sciadv.abk0942

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993119/
https://www.ncbi.nlm.nih.gov/pubmed/35394837
http://dx.doi.org/10.1126/sciadv.abk0942

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