Article
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Journal of medical genetics - 1 Jul 2010
Billingsley Gail, Bin Jenea, Fieggen Karen J, Duncan Jacque L, Gerth Christina, Ogata Koji, Wodak Shoshana S, Traboulsi Elias I, Fishman Gerald A, Paterson Andrew, Chitayat David, Knueppel Tanja, Millán José M, Mitchell Grant A, Deveault Catherine, Héon Elise
Abstract excerpt
BACKGROUND: Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9 form a complex called the BBSome, which is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The second group, the chaperonin-like proteins BBS6, BBS10, and BBS12, have been defined as a vertebrate-specific branch of the type II chaperonin superfamily....
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