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Human BBS1 Protein expressed in Wheat germ - ABIN1346464
Ishizuka, Kamiya, Oh, Kanki, Seshadri, Robinson, Murdoch, Dunlop, Kubo, Furukori, Huang, Zeledon, Hayashi-Takagi, Okano, Nakajima, Houslay, Katsanis, Sawa: DISC1-dependent switch from progenitor proliferation to migration in the developing cortex. in Nature 2011
Loss-of-function of bbs1 or bbs3 in zebrafish results in the same phenotypes as knockdown of other Bardet-Biedl syndrome genes.
loss of BBS1, BBS4 (show BBS4 Proteins), 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.
M390R mutation in BBS1 reduces surface expression of insulin receptor (show INSR Proteins) in fibroblasts derived from BBS (show BBS2 Proteins) patients.
BBS1 emerged as a novel predictor of overall survival in MPM.
Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 (show BBS10 Proteins) and other BBS1 mutations.
We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4 (show SLC26A4 Proteins).
A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome.
novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain
Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1 (show PCSK1 Proteins).
mediates endosomal recycling, sorting and signal transduction of Notch (show NOTCH1 Proteins) receptors
Novel mutations (c.1110G>A and c.39delA (p.G13fs*41)) in BBS1 found in Tunisian families with Bardet-Biedl syndrome.
loss of BBS1, BBS4 (show BBS4 Proteins), 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.
BBS1 protein plays a role in energy homeostasis by mediating the transport of the leptin receptor (show LEPR Proteins) to the plasma membrane.
Bbs1, Bbs2 (show BBS2 Proteins), and Bbs4 (show BBS4 Proteins) proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.
deletions of Bbs1 or Bbs4 (show BBS4 Proteins) 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.
ablation of BBS1 and BBS4 leads to alterations of s.c. sensory innervation and trafficking of the thermosensory channel TRPV1 and the mechanosensory channel STOML3
Although BBS (show BBS2 Proteins) proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1, Bbs2 (show BBS2 Proteins), Bbs4 (show BBS4 Proteins), and Bbs6 (show MKKS Proteins) mutant mice.
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
Bardet-Biedl syndrome 1 protein
, bardet-biedl syndrome 1
, Bardet-Biedl syndrome 1
, BBS2-like protein 2
, Bardet-Biedl syndrome 1 homolog