Article

Mutation of SLC7A14 Causes Auditory Neuropathy and Retinitis Pigmentosa Mediated by Lysosomal Dysfunction

2021-06-15

Abstract excerpt

<h4>ABSTRACT</h4> Lysosomes contribute to cellular homeostasis via processes including phagocytosis, macromolecule catabolism, secretion, and nutrient sensing mechanisms. Defective proteins related to lysosomal macromolecule catabolism are known to cause a broad range of lysosomal storage diseases. It is unclear, however, if mutations in genes in the autophagy-lysosomal pathway can cause syndromic disease. Here we...

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Literature Corpus work: 36aa47b1-2377-5897-9a94-b2f05dff9045
DOI: 10.1101/2021.06.10.21258486

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