The role of FYCO1-dependent autophagy in lens fiber cell differentiation.

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 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 e

SUBMITTER: Khan SY 

PROVIDER: S-EPMC9397473 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature