(Q37624332)

21 August 2017

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium (English)

1 reference

21 August 2017

1 reference

1 reference

Jean-Laurent Casanova

14

1 reference

21 August 2017

17

Stanislas Lyonnet

0 references

Enza Maria Valente

24

Enza Maria Valente

0 references

Tania Attié-Bitach

28

Tania Attié-Bitach

0 references

Alessia Micalizzi

Alessia Micalizzi

4

0 references

Sophie Saunier

Sophie Saunier

27

0 references

Isabelle Perrault

Isabelle Perrault

8

0 references

Jeanne Amiel

Jeanne Amiel

9

0 references

Nathalie Boddaert

Nathalie Boddaert

15

0 references

Arnold Munnich

18

Arnold Munnich

1 reference

21 August 2017

23

Joseph G Gleeson

1 reference

21 August 2017

1

Sophie Thomas

1 reference

21 August 2017

12

Nadia Elkhartoufi

1 reference

21 August 2017

5

Marta Romani

1 reference

21 August 2017

6

Avinash Abhyankar

1 reference

21 August 2017

22

Michel Vekemans

1 reference

21 August 2017

11

Emilie Filhol

1 reference

21 August 2017

10

Julie Litzler

1 reference

21 August 2017

19

Lydie Burglen

1 reference

21 August 2017

20

Nicolas Chassaing

1 reference

21 August 2017

Ferechté Encha-Ravazi

21

Ferechté Encha-Ravazi

1 reference

21 August 2017

Kevin J Wright

2

1 reference

21 August 2017

Stéphanie Le Corre

3

1 reference

21 August 2017

Julien Saada

7

1 reference

21 August 2017

Mandy Kwong

13

1 reference

21 August 2017

Wolfgang Baehr

16

1 reference

21 August 2017

Peter K Jackson

25

1 reference

21 August 2017

Iain A Drummond

26

1 reference

21 August 2017

1 January 2014

1 reference

21 August 2017

1 reference

21 August 2017

35

1 reference

21 August 2017

1

1 reference

21 August 2017

137-146

1 reference

ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

An ARL3-UNC119-RP2 GTPase cycle targets myristoylated NPHP3 to the primary cilium

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Whole-exome-sequencing-based discovery of human FADD deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

The Sequence Alignment/Map format and SAMtools

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Fast and accurate short read alignment with Burrows-Wheeler transform

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Deletion of PrBP/delta impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Piecing together a ciliome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Properties of the interaction of Arf-like protein 2 with PDEdelta

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Evaluation of the 17-kDa prenyl-binding protein as a regulatory protein for phototransduction in retinal photoreceptors

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

UCSF Chimera--a visualization system for exploratory research and analysis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

The complex of Arl2-GTP and PDE delta: from structure to function

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

The delta subunit of retinal rod cGMP phosphodiesterase regulates the membrane association of Ras and Rap GTPases

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

The delta subunit of rod specific cyclic GMP phosphodiesterase, PDE delta, interacts with the Arf-like protein Arl3 in a GTP specific manner

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

The retinitis pigmentosa GTPase regulator, RPGR, interacts with the delta subunit of rod cyclic GMP phosphodiesterase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Characterization of human and mouse rod cGMP phosphodiesterase delta subunit (PDE6D) and chromosomal localization of the human gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Stages of embryonic development of the zebrafish

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Efficient recovery of ENU-induced mutations from the zebrafish germline

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Photoreceptor cGMP Phosphodiesterase δ Subunit (PDEδ) Functions as a Prenyl-binding Protein

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3946372

Protein prenylation: a mediator of protein-protein interactions

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24166846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Expression and characterization of human PDEdelta and its Caenorhabditis elegans ortholog CEdelta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24166846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22470

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24166846

1 reference