{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:48:18Z","timestamp":1791978498964,"version":"4.4.0"},"reference-count":63,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"14","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sci. Adv."],"published-print":{"date-parts":[[2022,4,8]]},"abstract":"<jats:p>\n                    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 SLC7A14, a transporter protein mediating lysosomal uptake of cationic amino acids, is evolutionarily conserved in vertebrate mechanosensory hair cells and highly expressed in lysosomes of mammalian cochlear inner hair cells (IHCs) and retinal photoreceptors. Autosomal recessive mutation of\n                    <jats:italic>SLC7A14<\/jats:italic>\n                    caused loss of IHCs and photoreceptors, leading to presynaptic auditory neuropathy and retinitis pigmentosa in mice and humans. Loss-of-function mutation altered protein trafficking and increased basal autophagy, leading to progressive cell degeneration. This study implicates autophagy-lysosomal dysfunction in syndromic hearing and vision loss in mice and humans.\n                  <\/jats:p>","DOI":"10.1126\/sciadv.abk0942","type":"journal-article","created":{"date-parts":[[2022,4,8]],"date-time":"2022-04-08T13:56:11Z","timestamp":1649426171000},"source":"Crossref","is-referenced-by-count":31,"title":["Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction"],"prefix":"10.1126","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9332-3498","authenticated-orcid":true,"given":"Kimberlee P.","family":"Giffen","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA."},{"name":"Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University\/University of Georgia Medical Partnership, Athens, GA 30602, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9986-6546","authenticated-orcid":true,"given":"Yi","family":"Li","sequence":"additional","affiliation":[{"name":"Beijing Institute of Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2400-3284","authenticated-orcid":true,"given":"Huizhan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Creighton University School of Medicine, Omaha, NE 68178, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4948-2066","authenticated-orcid":true,"given":"Xiao-Chang","family":"Zhao","sequence":"additional","affiliation":[{"name":"Beijing Institute of Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8846-6408","authenticated-orcid":true,"given":"Chang-Jun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology &amp; Visual Sciences Key Lab, Beijing 100730, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren-Juan","family":"Shen","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology &amp; Visual Sciences Key Lab, Beijing 100730, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3570-6794","authenticated-orcid":true,"given":"Tianying","family":"Wang","sequence":"additional","affiliation":[{"name":"Beijing Institute of Otorhinolaryngology, Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7731-2756","authenticated-orcid":true,"given":"Amanda","family":"Janesick","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology-Head and Neck Surgery, Stanford University, Stanford, CA 94305, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo-Bei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology-Head and Neck Surgery, The Second Affiliated Hospital and Yuying Children\u2019s Hospital of Wenzhou Medical University, Wenzhou 325027, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shu-Sheng","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology-Head and Neck Surgery, Friendship Hospital, Capital Medical University, Beijing 100050, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bechara","family":"Kachar","sequence":"additional","affiliation":[{"name":"Laboratory of Cell Structure and Dynamics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0515-698X","authenticated-orcid":true,"given":"Zi-Bing","family":"Jin","sequence":"additional","affiliation":[{"name":"Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology &amp; 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