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Cilium-independent regulation of Gli protein function by Sufu in Hedgehog signaling is evolutionarily conserved
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GENES & DEVELOPMENT (2009)
The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella
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Transient ciliogenesis involving Bardet- Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation
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Hedgehog signal transduction by Smoothened: Pharmacologic evidence for a 2-step activation process
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Identification of ciliary localization sequences within the third intracellular loop of G protein-coupled receptors
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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
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THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia
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NATURE GENETICS (2008)
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
Nicolas F. Berbari et al.
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Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms
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A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity
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Hedgehog regulates smoothened activity by inducing a conformational switch
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Disruption of the basal body comprises proteasomal function and perturbs intracellular Wnt response
Jantje M. Gerdes et al.
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Patched1 regulates Hedgehog signaling at the primary cilium
Rajat Rohatgi et al.
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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis
Maxence V. Nachury et al.
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Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome
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BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
C Stoetzel et al.
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Homozygosity mapping with SNP arrays identifies TRIM32 an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)
AP Chiang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function
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Divergence of hedgehog signal transduction mechanism between Drosophila and mammals
M Varjosalo et al.
DEVELOPMENTAL CELL (2006)
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
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Vertebrate Smoothened functions at the primary cilium
KC Corbit et al.
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Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
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Gli2 and Gli3 localize to cilia and require the intra-flagellar transport protein polaris for processing and function
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Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways
M Simons et al.
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Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome
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Disruption of IFT results in both exocrine and endocrine abnormalities in the pancreas of Tg737(orpk) mutant mice
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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome
YL Fan et al.
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Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)
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Loss of C-elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport
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All mouse ventral spinal cord patterning by hedgehog is Gli dependent and involves an activator function of Gli3
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Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin
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orpk mouse model of polycystic kidney disease reveals essential role of primary cilia in pancreatic tissue organization
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Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
K Mykytyn et al.
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Loss of the Tg737 protein results in skeletal patterning defects
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Hedgehog signal transduction via smoothened association with a cytoplasmic complex scaffolded by the atypical kinesin, Costal-2
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Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease
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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
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NATURE GENETICS (2001)
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
DY Nishimura et al.
HUMAN MOLECULAR GENETICS (2001)
The Sonic hedgehog-Patched-Gli pathway in human development and disease
EH Villavicencio et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)