biostudies-literatureKhan SYNational Eye InstituteNEI NIH HHS2198-2215https://www.ebi.ac.uk/biostudies/studies/S-EPMC9397473biostudies-literatureUnknown18(9)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 FYCO1 cause cataracts with no other ocular and/or extra-ocular phenotype. Here, we show fyco1 homozygous knockout (fyco1-/-) 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 fyco1-/- mice lenses. Flow cytometry of FYCO1 (c.2206C>T) knock-in (KI) human lens eAutophagyThe role of FYCO1-dependent autophagy in lens fiber cell differentiation.PMC9397473R01 EY022714R01EY022714Kabir FNa CHQiu CKhan SYCostello MJRiazuddin SADelannoy MMa YAli MHejtmancik JFfalseThe role of FYCO1-dependent autophagy in lens fiber cell differentiation.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 FYCO1 cause cataracts with no other ocular and/or extra-ocular phenotype. Here, we show fyco1 homozygous knockout (fyco1-/-) 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 fyco1-/- mice lenses. Flow cytometry of FYCO1 (c.2206C>T) knock-in (KI) human lens e2022-01-01T00:00:00Z2022 Sep2026-05-06T03:12:50.236Z2025-04-04T20:21:27.948ZS-EPMC93974733534337610.1080/15548627.2022.2025570