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MetabolomicsThe 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 wit...

2024-03-24 | MTBLS206 | MetaboLights
UnknownLncRNA NEAT1 Recruits SFPQ to Regulate MITF Splicing and Control RPE Cell Proliferation.
Not available
S-EPMC8606808 | biostudies-literature
UnknownGenetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.
Not available
S-EPMC1288572 | biostudies-literature
UnknownPathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
Not available
S-EPMC4947966 | biostudies-literature
UnknownMutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.
Not available
S-EPMC7217820 | biostudies-literature
UnknownMissense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Not available
S-EPMC4581838 | biostudies-literature
UnknownA Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.
Not available
S-EPMC4915718 | biostudies-literature
ProteomicsFOXE3 Contributes to Peters Anomaly through Transcriptional Regulation of an Autophagy Associated Protein termed DNAJB1
FOXE3 is a lens specific transcription factor that has been associated with anterior segment ocular dysgenesis. To determine the transcriptional target(s) of FOXE3 that are indispensable for the anterior segment development, we examined the transcriptome and the proteome of cells expressing truncate...
ORGANISM(S): Homo sapiens (Human) 
2016-03-31 | PXD003436 | Pride
Foxe3 Peters anomaly Dnajb1 
UnknownFOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
Not available
S-EPMC4820811 | biostudies-literature
UnknownBietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
Not available
S-EPMC1181977 | biostudies-literature
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