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Bardet-Biedl syndrome 2

BBS, BBS2
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 and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their 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 forms a multiprotein BBSome complex with six other BBS proteins.[provided by RefSeq, Jan 2009] (from NCBI)
Top mentioned proteins: Bombesin, BBS1, CAN, BBS4, HAD
Papers using BBS antibodies
betaPIX controls cell motility and neurite extension by regulating the distribution of GIT1
Supplier
Kim Eung-Gook et al., In The Journal of Cell Biology, 2005
... BBS was purchased from Tocris Bioscience ...
Abnormal enteric nerve morphology in atretic esophagus of fetal rats with adriamycin-induced esophageal atresia
Supplier
Tovar Juan A. et al., In International Journal of Pediatrics, 1998
... (5) Anti-NSE (Neuron Specific Enolase) mouse monoclonal antibody (clone BBS/NC/VI-H14), diluted 1 : 100 Santa Cruz Biotechnology, CA, USA ...
Bombesin-like peptides can function as autocrine growth factors in human small-cell lung cancer
Supplier
Hellmich Mark R et al., In BMC Molecular Biology, 1984
... BBS was purchased from Bachem (Torrance, CA) ...
Papers on BBS
Loss of the BBSome perturbs endocytic trafficking and disrupts virulence of Trypanosoma brucei.
New
Hill et al., Los Angeles, United States. In Proc Natl Acad Sci U S A, Feb 2016
We report that T. brucei BBS proteins assemble into a BBSome that interacts with clathrin and is localized to membranes of the flagellar pocket and adjacent cytoplasmic vesicles.
Genetics of Human Bardet-Biedl Syndrome, an Updates.
Review
New
Khan et al., Kohāt, Pakistan. In Clin Genet, Feb 2016
UNASSIGNED: Bardet-Biedl syndrome (BBS) is an autosomal recessive multi-systemic human genetic disorder characterized by six major defects including obesity, mental retardation, renal anomalies, polydactyly, retinal degeneration and hypogenitalism.
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
New
Dollfus et al., Strasbourg, France. In J Hum Genet, Feb 2016
UNASSIGNED: Bardet-Biedl syndrome (BBS; MIM 209900) is a recessive heterogeneous ciliopathy characterized by retinitis pigmentosa (RP), postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction.
Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling.
New
Reiter et al., Dublin, Ireland. In Plos Genet, Nov 2015
The BBSome is a third protein complex, affected in the ciliopathy Bardet-Biedl syndrome (BBS).
Mutant SOD1 Increases APP Expression and Phosphorylation in Cellular and Animal Models of ALS.
Solomon et al., Tel Aviv-Yafo, Israel. In Plos One, 2014
Inhibition of APP processing via monoclonal antibody called BBS that blocks APP β-secretase cleavage site, resulted in reduction of mutant SOD1G93A levels in animal and cellular models of ALS, significantly prolonged life span of SOD1G93A mice and diminished inflammation.
β-Adrenergic Receptors : New Target in Breast Cancer.
Chen et al., Harbin, China. In Asian Pac J Cancer Prev, 2014
One study demonstrated that the risk of relapse- free survival (RFS) was raised significantly with beta-blockers (BBS) (HR= 0.30; 95% CI=0.10-0.87;
Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model.
Impact
Sheffield et al., Iowa City, United States. In Nat Med, 2012
Here we use a hydrocephalic mouse model of the human ciliopathy Bardet-Biedl Syndrome (BBS) and identify a role for neural progenitors in the pathogenesis of neonatal hydrocephalus.
The BBSome controls IFT assembly and turnaround in cilia.
Impact
Hu et al., Rochester, United States. In Nat Cell Biol, 2012
From a whole-genome mutagenesis screen in Caenorhabditis elegans, we identified two hypomorphic mutations in dyf-2 and bbs-1 as the only mutants showing normal anterograde IFT transport but defective IFT turnaround at the ciliary tip.
Regulating intraflagellar transport.
Impact
Christensen et al., Copenhagen, Denmark. In Nat Cell Biol, 2012
Bardet-Biedl syndrome (BBS) and IFT-A proteins are now implicated in regulation of IFT assembly at the ciliary base and tip.
Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney.
Review
Gubler et al., Paris, France. In Pediatr Nephrol, 2012
Bardet-Biedl syndrome (BBS) is a multisystemic developmental disorder diagnosed on the basis of the presence of obesity, retinal defects, polydactyly, hypogonadism, renal dysfunction, and learning disabilities.
Molecular basis of the obesity associated with Bardet-Biedl syndrome.
Review
Rahmouni et al., Iowa City, United States. In Trends Endocrinol Metab, 2011
Bardet-Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and hypogenitalism.
DISC1-dependent switch from progenitor proliferation to migration in the developing cortex.
Impact
Sawa et al., Baltimore, United States. In Nature, 2011
Unphosphorylated DISC1 regulates canonical Wnt signalling via an interaction with GSK3β, whereas specific phosphorylation at serine 710 (S710) triggers the recruitment of Bardet-Biedl syndrome (BBS) proteins to the centrosome.
Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.
GeneRIF
Rahmouni et al., Iowa City, United States. In Am J Physiol Heart Circ Physiol, 2010
Data implicate Bardet-Biedl syndrome genes in the regulation of vascular function and demonstrate that disrupting Bbs2 and Bbs6 genes affect differentially the vascular function.
A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.
GeneRIF
Parboosingh et al., Calgary, Canada. In Clin Genet, 2010
Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472-2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts.
CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Review
De Baere et al., Gent, Belgium. In Hum Mutat, 2010
One of the most intriguing disease genes associated with ciliopathies is CEP290, in which mutations cause a wide variety of distinct phenotypes, ranging from isolated blindness over Senior-Loken syndrome (SLS), nephronophthisis (NPHP), Joubert syndrome (related disorders) (JS[RD]), Bardet-Biedl syndrome (BBS), to the lethal Meckel-Grüber syndrome (MKS).
The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia.
Impact
Nachury et al., Stanford, United States. In Cell, 2010
The BBSome is a complex of Bardet-Biedl Syndrome (BBS) proteins that shares common structural elements with COPI, COPII, and clathrin coats.
The blind leading the obese: the molecular pathophysiology of a human obesity syndrome.
Review
Sheffield, Iowa City, United States. In Trans Am Clin Climatol Assoc, 2009
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder affecting multiple organ systems and resulting in blindness, obesity, cognitive impairment, and congenital defects.
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
GeneRIF
Amiel et al., Paris, France. In Proc Natl Acad Sci U S A, 2009
RET and BBS mutations modulate enteric innervation and cause syndromic Hirschsprung disease
Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
GeneRIF
Sheffield et al., United States. In Hum Mol Genet, 2009
Bardet-Biedl syndrome (BBS) proteins mediate LepR trafficking and that impaired LepR signaling underlies energy imbalance in BBS.
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
GeneRIF
Mykytyn et al., Columbus, United States. In Proc Natl Acad Sci U S A, 2008
a lack of ciliary localization of somatostatin receptor type 3 (Sstr3) and melanin-concentrating hormone receptor 1 (Mchr1) in neurons from mice lacking the Bbs2 or Bbs4 gene
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