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Article

BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.

PLoS genetics - 1 Oct 2017

Hsu Ying, Garrison Janelle E, Kim Gunhee, Schmitz Addison R, Searby Charles C, Zhang Qihong, Datta Poppy, Nishimura Darryl Y, Seo Seongjin, Sheffield Val C

Abstract excerpt

Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, pleiotropic ciliopathy characterized by retinal degeneration, obesity, postaxial polydactyly, intellectual disability, and genital and renal abnormalities. To gain insight into the mechanisms of retinal degeneration in BBS, we...

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Source

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Identifiers

PMID: 29049287
DOI: 10.1371/journal.pgen.1007057
PMCID: PMC5663628

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.PMID 29049287Read ↗

The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cellsSemantic proximity Read ↗

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.Semantic proximity Read ↗

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.Semantic proximity Read ↗

The absence of BBSome function decreases synaptogenesis and causes ectopic synapse formation in the retinaSemantic proximity Read ↗

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Semantic proximity Read ↗

Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid compositionSemantic proximity Read ↗

The Bardet-Biedl protein Bbs1 controls photoreceptor outer segment protein and lipid compositionSemantic proximity Read ↗

The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells.Semantic proximity Read ↗

A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities.Semantic proximity Read ↗

Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet–Biedl syndromeSemantic proximity Read ↗

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes.Semantic proximity Read ↗

A <i>Bbs5</i> mouse model reveals pituitary cilia contributions to developmental abnormalitiesSemantic proximity Read ↗

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