BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes
about
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndromeThe intraflagellar transport protein IFT27 promotes BBSome exit from cilia through the GTPase ARL6/BBS3.Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSomeIFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment.Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null miceMouse models of ciliopathies: the state of the art.Intraflagellar transport complex structure and cargo interactions.CP110 and its network of partners coordinately regulate cilia assembly.The roles of evolutionarily conserved functional modules in cilia-related trafficking.Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease managementNephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo deliveryIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeAbnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse modelA mutation in the mouse ttc26 gene leads to impaired hedgehog signalingDisordered proteinaceous machinesDirect evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia.Ciliopathies: the trafficking connection.Function and regulation of primary cilia and intraflagellar transport proteins in the skeletonRegulation of Insulin Receptor Trafficking by Bardet Biedl Syndrome Proteins.Developmental disruptions underlying brain abnormalities in ciliopathies.BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors.Proteomics of Primary Cilia by Proximity LabelingThe Meckel syndrome- associated protein MKS1 functionally interacts with components of the BBSome and IFT complexes to mediate ciliary trafficking and hedgehog signalingStructural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly.Loss of the BBSome perturbs endocytic trafficking and disrupts virulence of Trypanosoma brucei.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Cycling of the signaling protein phospholipase D through cilia requires the BBSome only for the export phase.The role of ciliary trafficking in Hedgehog receptor signaling.BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.RABL-regulated pathways: a new tale in sperm functionSmall GTPase Arl6 controls RH30 rhabdomyosarcoma cell growth through ciliogenesis and Hedgehog signaling.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Compartmentalization of signaling by vesicular trafficking: a shared building design for the immune synapse and the primary cilium.Hedgehog signaling from the primary cilium to the nucleus: an emerging picture of ciliary localization, trafficking and transductionPrimary cilia in neurodevelopmental disorders.G-protein-coupled receptors, Hedgehog signaling and primary cilia.Role of cilia in normal pancreas function and in diseased states.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Bardet-Biedl syndrome: Is it only cilia dysfunction?BBS4 regulates the expression and secretion of FSTL1, a protein that participates in ciliogenesis and the differentiation of 3T3-L1.
P2860
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P2860
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@ast
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@en
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@en-gb
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@nl
type
label
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@ast
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@en
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@en-gb
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@nl
prefLabel
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@ast
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@en
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@en-gb
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@nl
P2860
P50
P921
P3181
P356
P1476
BBS proteins interact genetica ...... fluence SHH-related phenotypes
@en
P2093
Kevin Bugge
Qihong Zhang
P2860
P304
P3181
P356
10.1093/HMG/DDS004
P407
P577
2012-01-06T00:00:00Z