Genomes and Genes
Gene Symbol: bbs4
Description: Bardet-Biedl syndrome 4
Alias: zgc:152964, Bardet-Biedl syndrome 4 protein
- 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...
- Lindstrand A, Frangakis S, Carvalho C, Richardson E, McFadden K, Willer J, et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016;99:318-36 pubmed publisher..5%), including 13 different deletions in eight BBS genes (BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, BBS7, BBS9, and NPHP1) and a deletion and a duplication in other ciliopathy-associated genes (ALMS1 and ..
- Chamling X, Seo S, Searby C, Kim G, Slusarski D, Sheffield V. The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014;10:e1004083 pubmed publisher..Furthermore, we show that AZI1 interacts with the BBSome through BBS4. AZI1 is not involved in BBSome assembly, but accumulation of the BBSome in cilia is enhanced upon AZI1 depletion...
- Wang H, Chen X, Dudinsky L, Patenia C, Chen Y, Li Y, et al. Exome capture sequencing identifies a novel mutation in BBS4. Mol Vis. 2011;17:3529-40 pubmed..A novel missense mutation in Bardet-Biedl syndrome 4 protein (BBS4) was identified in a consanguineous family from Saudi Arabia. This missense mutation in the fifth exon (c...
- Lopes C, Prosser S, Romio L, Hirst R, O Callaghan C, Woolf A, et al. Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. J Cell Sci. 2011;124:600-12 pubmed publisher..colocalization with PCM-1, that OFD1 (the product of the gene mutated in oral-facial-digital syndrome 1) as well as BBS4 and CEP290 (proteins encoded by other ciliopathy genes) are primarily components of centriolar satellites, the ..
- Hudak L, Lunt S, Chang C, Winkler E, Flammer H, LINDSEY M, et al. The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. Invest Ophthalmol Vis Sci. 2010;51:3792-9 pubmed publisher..Genetic interactions were tested by coinjection of MOs against ift80 and bbs4 or bbs8 followed by in situ hybridization. RESULTS...
- 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..Here, we show that loss of cilopathy-associated proteins Bardet-Biedl syndrome 4 (BBS4) or oral-facial-digital syndrome 1 (OFD1) results in the accumulation of signaling mediators normally targeted for ..
- Lodh S, Hostelley T, Leitch C, O Hare E, Zaghloul N. Differential effects on Î²-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes. Hum Mol Genet. 2016;25:57-68 pubmed publisher..Alstrom gene, alms1, resulted in a significant decrease in Î²-cell production whereas loss of BBS genes, bbs1 or bbs4, resulted in a significant increase...
- Blacque O, Leroux M. Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. Cell Mol Life Sci. 2006;63:2145-61 pubmed..From these discoveries, a common theme has emerged, namely that the primary function of BBS proteins may be to mediate and regulate microtubule-based intracellular transport processes. ..