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we show that a centriolar satellite protein, AZI1 (also known as CEP131), interacts with the BBSome and regulates BBSome ciliary trafficking activity. Furthermore, we show that AZI1 interacts with the BBSome through BBS4
loss of BBS1 (show BBS1 Proteins), BBS4, or OFD1 led to decreased NF-kappaB (show NFKB1 Proteins) activity and concomitant IkappaBbeta (show NFKBIB Proteins) accumulation and that these defects were ameliorated with SFN (show SFN Proteins) treatment.
a novel nonsense mutation in BBS4 gene in a Chinese family with Bardet-Biedl syndrome. This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein; a rare heterozygous missense SNP in BBS10 (show BBS10 Proteins) gene was also detected
Results present evidence of a role for BBS4 in mediating the phosphorylation of TrkB (show NTRK2 Proteins) by BDNF (show BDNF Proteins) and its activation requires a proper localization to the ciliary axoneme.
mediates endosomal recycling, sorting and signal transduction of Notch (show NOTCH1 Proteins) receptors
loss of BBS1 (show BBS1 Proteins), BBS4, or OFD1 (show OFD1 Proteins) led to decreased NF-kappaB (show NFKB1 Proteins) activity and concomitant IkappaBbeta (show NFKBIB Proteins) accumulation and that these defects were ameliorated with SFN (show SFN Proteins) treatment.
Findings indicate that Bbs (show BBS2 Proteins) proteins play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RhoA (show RHOA Proteins) levels.
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
A novel missense mutation in BBS4 that co-segregates with Leber Congenital Amaurosis was identified in a consanguineous family from Saudi Arabia.
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Evaluated the spectrum of mutations in the recently identified BBS4 gene with a combination of haplotype analysis and mutation screening.
The phenotype of patients with BBS4 mutations consists of severe retinitis pigmentosa, variable obesity, brachydactyly with variable polydactyly, small or missing teeth, genital hypoplasia, and cardiovascular disease.
A novel Frameshift Mutation between the splice donor site and exon 5 of BBS4 in a Bardet-Biedl syndrome patient and a novel heterozygous base substitution in both an affected mother and her affected daughter.
demonstrated that the MKS (show MKKS Proteins) transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium
Bbs1 (show BBS1 Proteins), Bbs2 (show BBS2 Proteins), and Bbs4 proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.
Bbs4 silencing in 3T3F442A preadipocytes induced accelerated cell division and aberrant differentiation. Bbs4 silenced cells accumulate significantly more triglycerides than control adipocytes.
The BBSome binds to the N-terminal region of CEP290 through BBS4 and co-localizes with CEP290 to the transition zone (TZ) of primary cilia and centriolar satellites in ciliated cells, as well as to the connecting cilium in photoreceptor cells.
Bbs4-null mice develop both motile and primary cilia, demonstrating that Bbs4 is not required for global cilia formation.
deletions of Bbs1 (show BBS1 Proteins) or Bbs4 affected the olfactory epithelium, causing severe reduction of the ciliated border, disorganization of the dendritic microtubule network and trapping of olfactory ciliary proteins in dendrites and cell bodies.
Evaluations of mice null for Bbs4, have uncovered phenotypic features with age-dependent penetrance and variable expressivity, partially recapitulating the human Bardet-Biedl syndrome phenotype.
Lacking Bbs4 does not lead to aberrant cilia or basal body structure. However, the dynamics of cilia assembly is altered in Bbs4(-/-) cells, suggesting a role for Bbs4 in the regulation of ciliary assembly.
The specific loss of photoreceptors in Bbs4(-)(/)(-) mice allows us to identify a set of genes that are preferentially expressed in photoreceptors compared with other cell types found in the eye
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein 'BBSome' complex with six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.
, Bardet-Biedl syndrome 4
, Bardet-Biedl syndrome 4 protein homolog
, bardet-biedl syndrome 4
, bardet-Biedl syndrome 4 protein-like
, Bardet-Biedl syndrome 4 protein-like
, Bardet-Biedl syndrome 4 protein
, Bardet-Biedl syndrome 4 homolog