(Q30665368)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

title

The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

2

1 reference

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24 February 2020

Irene Litvan

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

James B Leverenz

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Miguel Inca Martínez

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

8

John W Roberts

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

26

Cyrus P Zabetian

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

22

Brenna A Cholerton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Ignacio F Mata

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Chun-Hyung Kim

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

David S Hanna

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Michael O Dorschner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Ali Samii

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Pinky Agarwal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Olga Klepitskaya

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

David R Shprecher

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Kathryn A Chung

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Alberto J Espay

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Fredy J Revilla

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Donald S Higgins

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Dora Yearout

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Erica Martinez

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Tiffany R Thompson

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Shu-Ching Hu

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Karen L Edwards

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Kwang-Soo Kim

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Stewart A Factor

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

publication date

24 September 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

Molecular Neurodegeneration

24 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

volume

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

page(s)

50

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

24 February 2020

copyright license

start time

24 September 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13024-015-0045-4

0 references

cites work

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Effective filtering strategies to improve data quality from population-based whole exome sequencing studies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

A general framework for estimating the relative pathogenicity of human genetic variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

DNAJC13 mutations in Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Advances in the genetics of Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Modulating ectopic gene expression levels by using retroviral vectors equipped with synthetic promoters

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Evolution and functional impact of rare coding variation from deep sequencing of human exomes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Exome sequencing: a transformative technology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Role of Rab GTPases in membrane traffic and cell physiology

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine beta-hydroxylase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Protein structure prediction on the Web: a case study using the Phyre server

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Structural clues to Rab GTPase functional diversity

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4581468

TRPM2 mediates the lysophosphatidic acid-induced neurite retraction in the developing brain.

20 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2FS13024-015-0045-4

Increased Dosage of RAB39B Affects Neuronal Development and Could Explain the Cognitive Impairment in Male Patients with Distal Xq28 Copy Number Gains

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26399558

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Rab GTPases at a glance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26399558

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13024-015-0045-4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

24 February 2020

1050177119

0 references

Fatcat ID

release_b5edpqa6ojbi3kak7j2m4wru2u

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/b5edpqa6ojbi3kak7j2m4wru2u

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26399558%20AND%20SRC:MED&resulttype=core&format=json