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Article

Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model.

Gene therapy - 1 May 2022

Cring Matthew R, Meyer Kacie J, Searby Charles C, Hedberg-Buenz Adam, Cave Michael, Anderson Michael G, Wang Kai, Sheffield Val C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a rare ciliopathy for which there are no current effective treatments. BBS is a genetically heterogeneous disease, though the M390R mutation in BBS1 is involved in ~25% of all genetic diagnoses of BBS. The principle features of BBS include retinal degeneration, obesity, male infertility, polydactyly, intellectual disability, and renal abnormalities. Patients with mutations in BBS...

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Identifiers

PMID: 33664503
DOI: 10.1038/s41434-021-00241-1
PMCID: PMC9422088

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Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model.PMID 33664503Read ↗

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