(Q42140244)

17 October 2017

A "so cilia" network: cilia proteins start "social" networking (English)

1 reference

17 October 2017

Frédéric Saudou

1

1 reference

PMC publication ID

3314480

17 October 2017

language of work or name

English

0 references

publication date

26 March 2012

1 reference

Journal of Clinical Investigation

17 October 2017

1 reference

17 October 2017

122

1 reference

17 October 2017

4

1 reference

17 October 2017

1198-1202

1 reference

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

17 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Gene therapy: light is finally in the tunnel

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Gene supplementation therapy for recessive forms of inherited retinal dystrophies.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

The human visual cortex responds to gene therapy-mediated recovery of retinal function

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

The primary cilium: a signalling centre during vertebrate development

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

The PCM-basal body/primary cilium coalition

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

The vertebrate primary cilium in development, homeostasis, and disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Leber congenital amaurosis: genes, proteins and disease mechanisms

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

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

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

29 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3314480

Ciliary Trafficking: CEP290 Guards a Gated Community

29 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22446182

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI62971

1 reference

17 October 2017

1 reference

PMC publication ID

3314480

17 October 2017

PubMed publication ID

22446182

1 reference

PMC publication ID

3314480