Gene Symbol: bbs1
Description: Bardet-Biedl syndrome 1
Alias: im:7144669, Bardet-Biedl syndrome 1 protein
Badano J, Leitch C, Ansley S, May Simera H, Lawson S, Lewis R, et al
. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2006;439:326-30 pubmed
..Our data demonstrate how the combined use of biochemical, genetic and in vivo tools can facilitate the dissection of epistatic phenomena, and enhance our appreciation of the genetic basis of phenotypic variability. ..
Tayeh M, Yen H, Beck J, Searby C, Westfall T, Griesbach H, et al
. Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning. Hum Mol Genet. 2008;17:1956-67 pubmed publisher
..Here, we demonstrate that individual knockdown of bbs1 and bbs3 results in the same prototypical phenotypes as reported previously for other BBS genes...
Gerdes J, Liu Y, Zaghloul N, Leitch C, Lawson S, Kato M, et al
. Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet. 2007;39:1350-60 pubmed
..Here we show that bbs1, bbs4 and mkks (also known as bbs6), which encode basal body proteins, are required for convergence and extension ..
Zaghloul N, Liu Y, Gerdes J, Gascue C, Oh E, Leitch C, et al
. Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A. 2010;107:10602-7 pubmed publisher
..Importantly, superimposition of these results to human genetics data suggests a previously underappreciated complexity in disease architecture that might be shared among diverse clinical phenotypes. ..
Leitch C, Zaghloul N, Davis E, Stoetzel C, Diaz Font A, Rix S, et al
. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008;40:443-8 pubmed publisher
..These data extend the genetic stratification of ciliopathies and suggest that BBS and MKS, although distinct clinically, are allelic forms of the same molecular spectrum...
Loktev A, Zhang Q, Beck J, Searby C, Scheetz T, Bazan J, et al
. A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell. 2008;15:854-65 pubmed publisher
..BBSome-bound BBIP10 may therefore function to couple acetylation of axonemal microtubules and ciliary membrane growth. ..
Liu Y, Tsai I, Morleo M, Oh E, Leitch C, Massa F, et al
. Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest. 2014;124:2059-70 pubmed
..proteasomal activators sulforaphane (SFN) and mevalonolactone (MVA) ameliorated signaling defects in cells lacking BBS1, BBS4, and OFD1, in morphant zebrafish embryos, and in induced neurons from Ofd1-deficient mice...
Kim Y, Epting D, Slanchev K, Engel C, Walz G, Kramer Zucker A. A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish. PLoS ONE. 2013;8:e72549 pubmed publisher
..The knockdown of zebrafish bbs1 and nphp7...
Leitch C, Lodh S, Prieto EchagÃ¼e V, Badano J, Zaghloul N. Basal body proteins regulate Notch signaling through endosomal trafficking. J Cell Sci. 2014;127:2407-19 pubmed publisher
..Here, we report that loss of the Bardet-Biedl syndrome proteins BBS1 or BBS4 produces increased Notch-directed transcription in a zebrafish reporter line and in human cell lines...