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

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 approximately 25% of all genetic diagnoses of BBS. The principle features of BBS include retinal degenera...

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Detalles Bibliográficos
Autores principales: Cring, Matthew R., Meyer, Kacie J., Searby, Charles C., Hedberg-Buenz, Adam, Cave, Michael, Anderson, Michael G., Wang, Kai, Sheffield, Val C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422088/
https://www.ncbi.nlm.nih.gov/pubmed/33664503
http://dx.doi.org/10.1038/s41434-021-00241-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422088/
https://www.ncbi.nlm.nih.gov/pubmed/33664503
http://dx.doi.org/10.1038/s41434-021-00241-1

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