(Q34657526)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

0 references

0 references

1 reference

1 reference

X-linked intellectual disability

0 references

disability affecting intellectual abilities

1 reference

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Catriona A. McLean

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Stefan Haas

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Yujing Gao

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Ashley P.L. Marsh

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Maria Lidia Mignogna

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

George D. Mellick

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Patrizia D'Adamo

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

David J Amor

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Paul J. Lockhart

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

27

Martin B Delatycki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

20

Greta Gillies

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

author name string

Gabrielle R Wilson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Joe C H Sim

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Maila Giannandrea

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Charles A Galea

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Jessica R Riseley

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Sarah E M Stephenson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Elizabeth Fitzpatrick

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Kate Pope

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Kirk J Hogan

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Ronald G Gregg

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Catherine J Bromhead

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

David S Wargowski

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Christopher H Lawrence

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Paul A James

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Andrew Churchyard

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Dean G Phelan

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Nicholas Salce

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Lynn Stanford

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Susan J Hayflick

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Richard J Leventer

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

Melanie Bahlo

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

language of work or name

English

0 references

publication date

26 November 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

23 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

page(s)

729-735

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

Structural biology of Arf and Rab GTPases' effector recruitment and specificity

23 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Structural basis of membrane trafficking by Rab family small G protein

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Alpha-synuclein and intracellular trafficking: impact on the spreading of Parkinson's disease pathology.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Can we clinically diagnose dementia with Lewy bodies yet?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Disruption of protein quality control in Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Genetics of Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Neurodegeneration with brain iron accumulation - clinical syndromes and neuroimaging

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

A tangled web - tau and sporadic Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Role of Rab GTPases in membrane traffic and cell physiology

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Wallerian degeneration, wld(s), and nmnat

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Genome-wide association study reveals genetic risk underlying Parkinson's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Fast and accurate automatic structure prediction with HHpred.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Dementia with Lewy bodies: Definition, diagnosis, and pathogenic relationship to Alzheimer's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Clinical and genetic delineation of neurodegeneration with brain iron accumulation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Comparative protein structure modeling using Modeller

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

The Parkinson's disease protein alpha-synuclein disrupts cellular Rab homeostasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Interface between tauopathies and synucleinopathies: A tale of two proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Isolation and characterization of a human novel RAB (RAB39B) gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Non-Abeta component of Alzheimer's disease amyloid (NAC) revisited. NAC and alpha-synuclein are not associated with Abeta amyloid.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

VERIFY3D: assessment of protein models with three-dimensional profiles

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

ANOLEA: a www server to assess protein structures.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Main-chain bond lengths and bond angles in protein structures

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

An X-linked recessive basal ganglia disorder with mental retardation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Tau deficiency induces parkinsonism with dementia by impairing APP-mediated iron export.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Cellular and subcellular localizations of nonheme ferric and ferrous iron in the rat brain: a light and electron microscopic study by the perfusion-Perls and -Turnbull methods

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

In vitro characterization of Pittsburgh compound-B binding to Lewy bodies.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Eris: an automated estimator of protein stability.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

Mapping to distal Xq28 of nonspecific X-linked mental retardation MRX72: linkage analysis and clinical findings in a three-generation Sardinian family.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4259921

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

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25434005

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25434005

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.10.015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json

23 February 2020

PubMed publication ID

25434005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25434005%20AND%20SRC:MED&resulttype=core&format=json