Bardet-Biedl syndrome 1 mutations differentially impact BBSome integrity and ciliary trafficking.

doi:10.1186/s12964-026-03006-8

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Article

Bardet-Biedl syndrome 1 mutations differentially impact BBSome integrity and ciliary trafficking.

Cell communication and signaling : CCS - 19 Jun 2026

Maskova Kristyna, Hajsmanova Hana, Bykova Sofiia, Smite Sindija, Prasai Avishek, Rozbesky Daniel, Huranova Martina

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome is a pleiotropic ciliopathy marked by retinal degeneration, obesity, polydactyly, renal and reproductive anomalies, and cognitive impairment. BBS1, the most frequently mutated gene in Bardet-Biedl syndrome, encodes a key component of the BBSome complex, which is essential for ciliary membrane trafficking. Although BBS1 is known to be essential for proper BBSome function, the...

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Identifiers

PMID: 42316211
DOI: 10.1186/s12964-026-03006-8
PMCID: PMC13520375

Genes

BBS1
GPR161
TOM1L2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.