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MetabolomicsThe Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid composition

Summary

Primary cilia are key sensory organelles whose dysfunction leads to ciliopathy disorders such as Bardet-Biedl syndrome (BBS). Retinal degeneration is common in ciliopathies, since the outer segments (OSs) of photoreceptors are highly specialized primary cilia. BBS...

2022-02-18 | MTBLS4013 | MetaboLights
ProteomicsWhole eye proteomic analysis of bbs1 zebrafish mutants
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal dystrophy, intellectual disability, polydactyly, obesity and renal anomalies. In photoreceptors (PR), light sensation occurs in outer segments (OSs), which are specialized primary cilia. BBS1, the major BBS gene, is part of a prote...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) 
2022-02-10 | PXD030522 | Pride
Zebrafish Eye Bbs1 Lc-ms/ms 
GenomicsBetta schalleri isolate:BRIN-BBS1
Betta schalleri isolate:BRIN-BBS1 Genome sequencing
PRJNA1306763 | ENA
ProteomicsLFQ-proteomic on bbs1 zebrafish photoreceptor outer segments
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal dystrophy, intellectual disability, polydactyly, obesity and renal anomalies. In photoreceptors (PR), light sensation occurs in outer segments (OSs), which are specialized primary cilia. BBS1, the major BBS gene, is part of a prote...
ORGANISM(S): Danio rerio (Zebrafish) (Brachydanio rerio) 
2022-02-10 | PXD026646 | Pride
Lfq-p Zebrafish Outer segment Photoreceptor Bbs 
ProteomicsPhosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1.
Using genomic editing with CRISPR-CAS9 and phosphoproteomics we have studied the TGF-β signalling pathway in knock-out (KO) models for ALMS1 and BBS1 genes. We have developed a network diffusion-based analysis pipeline to expand the data initially obtained and to be able to determine which processes...
ORGANISM(S): Homo sapiens (Human) 
2025-11-17 | PXD037573 | Pride
Ciliopathies Tgf-β Alms1 Bardet-biedl syndrome. Alström syndrome Phosphoproteomics Bbs1 
UnknownEctopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model.
Not available
S-EPMC9422088 | biostudies-literature
UnknownEvaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Not available
S-EPMC379234 | biostudies-literature
Genomics
RNAseq of Bbs1 KO Zebrafish larval eyes
PRJNA789116 | ENA
UnknownLoss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition.
Not available
S-EPMC8917222 | biostudies-literature
UnknownComparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.
Not available
S-EPMC8711006 | biostudies-literature
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