Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein (Q24299480)

Polycystin 1, transient receptor potential channel interacting

GOA release 2020-03-11

1 reference

polycystic kidney disease

GOA release 2020-03-11

1 reference

polycystic kidney disease 1

inferred from title

1 reference

inferred from title

Bardet-Biedl syndrome

1 reference

Xuefeng Su

1

0 references

Kaitlin Driscoll

2

0 references

Gang Yao

3

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Anas Raed

4

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Maoqing Wu

5

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Philip L Beales

6

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Jing Zhou

Polycystin-1 regulates the stability and ubiquitination of transcription factor Jade-1

7

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language of work or name

English

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publication date

15 October 2014

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published in

Human Molecular Genetics

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volume

23

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issue

20

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page(s)

5441-51

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystin-1 cleavage and the regulation of transcriptional pathways

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Mechanical stimuli induce cleavage and nuclear translocation of the polycystin-1 C terminus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Endothelial cilia are fluid shear sensors that regulate calcium signaling and nitric oxide production through polycystin-1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Native polycystin 2 functions as a plasma membrane Ca2+-permeable cation channel in renal epithelia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Pyrimethamine inhibits adult polycystic kidney disease by modulating STAT signaling pathways

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystin-1 regulates STAT activity by a dual mechanism

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Failure to ubiquitinate c-Met leads to hyperactivation of mTOR signaling in a mouse model of autosomal dominant polycystic kidney disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Aberrant regulation of planar cell polarity in polycystic kidney disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Molecular mechanisms of protein and lipid targeting to ciliary membranes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Lateral transport of Smoothened from the plasma membrane to the membrane of the cilium

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystins and primary cilia: primers for cell cycle progression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Small-molecule CFTR inhibitors slow cyst growth in polycystic kidney disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

The mTOR pathway is regulated by polycystin-1, and its inhibition reverses renal cystogenesis in polycystic kidney disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystin-1 induces resistance to apoptosis through the phosphatidylinositol 3-kinase/Akt signaling pathway.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystin-1, the gene product of PKD1, induces resistance to apoptosis and spontaneous tubulogenesis in MDCK cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

The polycystic kidney disease 1 gene product modulates Wnt signaling

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Identification and localization of polycystin, the PKD1 gene product

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Loss of cilia suppresses cyst growth in genetic models of autosomal dominant polycystic kidney disease

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Distribution and developmentally regulated expression of murine polycystin

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4168828

Polycystic kidney disease: The complete structure of the PKD1 gene and its protein

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU267

EGF receptor tyrosine kinase inhibition attenuates the development of PKD in Han:SPRD rats

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU267

Combination treatment of PKD utilizing dual inhibition of EGF-receptor activity and ligand bioavailability

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU267

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU267

BBS10 mutations are common in 'Meckel'-type cystic kidneys

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU267

The polycystic kidney disease-1 protein, polycystin-1, binds and activates heterotrimeric G-proteins in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU267

Loss of Polycystin-1 in Human Cyst-Lining Epithelia Leads to Ciliary Dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU267

A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDU267

Constitutive activation of G-proteins by polycystin-1 is antagonized by polycystin-2

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24939912

12 December 2020

inferred from PubMed ID database lookup

A role for CFTR in human autosomal dominant polycystic kidney disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24939912

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/HMG/DDU267

1 reference

release_xjajop5ulvgadjrv7jsrtcdc3m

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xjajop5ulvgadjrv7jsrtcdc3m

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

24939912

1 reference