| Loss of the ciliary gene Bbs4 results in defective thermogenesis due to metabolic inefficiency and impaired lipid metabolism. | Loss of the ciliary gene Bbs4 results in defective thermogenesis due to metabolic inefficiency and impaired lipid metabolism.
Gohlke S, Mancini C, Garcia-Carrizo F, Schulz TJ. | 11/22/2021 |
| BBS4 affects the endoplasmic reticulum stress response in early adipogenesis, altering endoplasmic reticulum stress responsiveness and the adipocyte endoplasmic reticulum phenotype. | Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis.
Anosov M, Birk R. | 11/9/2019 |
| Insulin regulates Bbs4 expression during adipogenesis. | Insulin regulates Bbs4 during adipogenesis.
Nahum N, Forti E, Aksanov O, Birk R. | 03/31/2018 |
| demonstrated that the MKS transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium | The Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signaling.
Goetz SC, Bangs F, Barrington CL, Katsanis N, Anderson KV., Free PMC Article | 09/9/2017 |
| Bbs1, Bbs2, and Bbs4 proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons. | Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.
Williams CL, McIntyre JC, Norris SR, Jenkins PM, Zhang L, Pei Q, Verhey K, Martens JR., Free PMC Article | 11/7/2015 |
| Bbs4 silencing in 3T3F442A preadipocytes induced accelerated cell division and aberrant differentiation. Bbs4 silenced cells accumulate significantly more triglycerides than control adipocytes. | BBS4 directly affects proliferation and differentiation of adipocytes.
Aksanov O, Green P, Birk RZ. | 10/4/2014 |
| 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. | BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC., Free PMC Article | 08/9/2014 |
| loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. | Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.
Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N., Free PMC Article | 06/21/2014 |
| deletions of Bbs1 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. | Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.
Kulaga HM, Leitch CC, Eichers ER, Badano JL, Lesemann A, Hoskins BE, Lupski JR, Beales PL, Reed RR, Katsanis N. | 01/21/2010 |
| Bardet-Biedl syndrome (BBS) proteins mediate LepR trafficking and that impaired LepR signaling underlies energy imbalance in BBS. | Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling.
Seo S, Guo DF, Bugge K, Morgan DA, Rahmouni K, Sheffield VC., Free PMC Article | 01/21/2010 |
| Although BBS proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1, Bbs2, Bbs4, and Bbs6 mutant mice. | Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.
Shah AS, Farmen SL, Moninger TO, Businga TR, Andrews MP, Bugge K, Searby CC, Nishimura D, Brogden KA, Kline JN, Sheffield VC, Welsh MJ., Free PMC Article | 01/21/2010 |
| 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 | Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.
Berbari NF, Lewis JS, Bishop GA, Askwith CC, Mykytyn K., Free PMC Article | 01/21/2010 |
| 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 | Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.
Tan PL, Barr T, Inglis PN, Mitsuma N, Huang SM, Garcia-Gonzalez MA, Bradley BA, Coforio S, Albrecht PJ, Watnick T, Germino GG, Beales PL, Caterina MJ, Leroux MR, Rice FL, Katsanis N., Free PMC Article | 01/21/2010 |
| Bbs4-null mice develop both motile and primary cilia, demonstrating that Bbs4 is not required for global cilia formation. | Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC., Free PMC Article | 01/21/2010 |
| 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. | Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome.
Mokrzan EM, Lewis JS, Mykytyn K. | 01/21/2010 |
| 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. | Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.
Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR. | 01/21/2010 |
| 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 | Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.
Swiderski RE, Nishimura DY, Mullins RF, Olvera MA, Ross JL, Huang J, Stone EM, Sheffield VC. | 01/21/2010 |