(Q37083413)

18 August 2017

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa (English)

1 reference

18 August 2017

1 reference

14

1 reference

18 August 2017

Amelia Shoemark

5

0 references

Michael E. Cheetham

object named as

Michael E Cheetham

18

0 references

Alison Hardcastle

object named as

Alison J Hardcastle

17

0 references

Dror Sharon

19

object named as

Dror Sharon

1 reference

18 August 2017

Alice E Davidson

1

1 reference

18 August 2017

Nele Schwarz

2

1 reference

18 August 2017

Lina Zelinger

3

1 reference

18 August 2017

Gabriele Stern-Schneider

4

1 reference

18 August 2017

Benjamin Spitzbarth

6

1 reference

18 August 2017

Menachem Gross

7

1 reference

18 August 2017

Uri Laxer

8

1 reference

18 August 2017

Jacob Sosna

9

1 reference

18 August 2017

Panagiotis I Sergouniotis

10

1 reference

18 August 2017

Naushin H Waseem

11

1 reference

18 August 2017

Robert Wilson

12

1 reference

18 August 2017

Richard A Kahn

13

1 reference

18 August 2017

Uwe Wolfrum

15

1 reference

18 August 2017

Eyal Banin

16

1 reference

18 August 2017

Andrew R Webster

20

1 reference

18 August 2017

language of work or name

English

0 references

publication date

11 July 2013

1 reference

American Journal of Human Genetics

18 August 2017

1 reference

18 August 2017

93

1 reference

18 August 2017

2

1 reference

18 August 2017

321-329

1 reference

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Non-syndromic retinal ciliopathies: translating gene discovery into therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

UNC119 is required for G protein trafficking in sensory neurons

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Intraflagellar transport molecules in ciliary and nonciliary cells of the retina

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Crystal structure of the ARL2-GTP-BART complex reveals a novel recognition and binding mode of small GTPase with effector

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Basal bodies platforms for building cilia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

When cilia go bad: cilia defects and ciliopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Arl2 and Arl3 regulate different microtubule-dependent processes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Photoreceptor synaptic protein HRG4 (UNC119) interacts with ARL2 via a putative conserved domain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

The ARF-like 2 (ARL2)-binding protein, BART. Purification, cloning, and initial characterization

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Positional cloning of the gene for X-linked retinitis pigmentosa 2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Nasal brushing for the study of ciliary ultrastructure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Immunofluorescence staining of ciliated respiratory epithelial cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Coexpression, copurification, crystallization and preliminary X-ray analysis of a complex of ARL2-GTP and PDE delta

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3738823

Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23849777

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2013.06.003

1 reference

18 August 2017

1 reference

18 August 2017

1 reference