Article

Bardet-Biedl Syndrome 1 Mutations Differentially Impact BBSome Integrity and its Function in Ciliary Trafficking

2026-01-23

Abstract excerpt

Bardet-Biedl Syndrome (BBS) is a pleiotropic ciliopathy marked by retinal degeneration, obesity, polydactyly, renal and reproductive anomalies, and cognitive impairment. BBS1 , the most frequently mutated gene in BBS, 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 effects of disease-associa...

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Literature Corpus work: 5387ed41-9fae-5e14-9e24-a9b1464c824b
DOI: 10.64898/2026.01.23.701255

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