{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Khan SY"],"funding":["National Eye Institute","NEI NIH HHS"],"pagination":["2198-2215"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9397473"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["18(9)"],"pubmed_abstract":["FYCO1 (FYVE and coiled-coil domain containing 1) is an adaptor protein, expressed ubiquitously and required for microtubule-dependent, plus-end-directed transport of macroautophagic/autophagic vesicles. We have previously shown that loss-of-function mutations in <i>FYCO1</i> cause cataracts with no other ocular and/or extra-ocular phenotype. Here, we show <i>fyco1</i> homozygous knockout (<i>fyco1<sup>-/-</sup></i>) mice recapitulate the cataract phenotype consistent with a critical role of FYCO1 and autophagy in lens morphogenesis. Transcriptome coupled with proteome and metabolome profiling identified many autophagy-associated genes, proteins, and lipids respectively perturbed in <i>fyco1<sup>-/-</sup></i> mice lenses. Flow cytometry of <i>FYCO1</i> (c.2206C>T) knock-in (KI) human lens e"],"journal":["Autophagy"],"pubmed_title":["The role of FYCO1-dependent autophagy in lens fiber cell differentiation."],"pmcid":["PMC9397473"],"funding_grant_id":["R01 EY022714","R01EY022714"],"pubmed_authors":["Kabir F","Na CH","Qiu C","Khan SY","Costello MJ","Riazuddin SA","Delannoy M","Ma Y","Ali M","Hejtmancik JF"],"additional_accession":[]},"is_claimable":false,"name":"The role of FYCO1-dependent autophagy in lens fiber cell differentiation.","description":"FYCO1 (FYVE and coiled-coil domain containing 1) is an adaptor protein, expressed ubiquitously and required for microtubule-dependent, plus-end-directed transport of macroautophagic/autophagic vesicles. We have previously shown that loss-of-function mutations in <i>FYCO1</i> cause cataracts with no other ocular and/or extra-ocular phenotype. Here, we show <i>fyco1</i> homozygous knockout (<i>fyco1<sup>-/-</sup></i>) mice recapitulate the cataract phenotype consistent with a critical role of FYCO1 and autophagy in lens morphogenesis. Transcriptome coupled with proteome and metabolome profiling identified many autophagy-associated genes, proteins, and lipids respectively perturbed in <i>fyco1<sup>-/-</sup></i> mice lenses. Flow cytometry of <i>FYCO1</i> (c.2206C>T) knock-in (KI) human lens e","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2026-05-06T03:12:50.236Z","creation":"2025-04-04T20:21:27.948Z"},"accession":"S-EPMC9397473","cross_references":{"pubmed":["35343376"],"doi":["10.1080/15548627.2022.2025570"]}}