BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

Bardet-Biedl Syndrome (BBS) is a pleiotropic and genetically heterozygous disorder caused independently by numerous genes (BBS1–BBS17). Seven highly conserved BBS proteins (BBS1, 2, 4, 5, 7, 8 and 9) form a complex known as the BBSome, which functions in ciliary membrane biogenesis. BBS7 is both a u...

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Detalhes bibliográficos
Main Authors: Zhang, Qihong, Nishimura, Darryl, Vogel, Tim, Shao, Jianqiang, Swiderski, Ruth, Yin, Terry, Searby, Charles, Carter, Calvin S., Kim, GunHee, Bugge, Kevin, Stone, Edwin M., Sheffield, Val C.
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3679484/
https://ncbi.nlm.nih.gov/pubmed/23572516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/jcs.111740
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