Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology (Q34657526)

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23 February 2020

title

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

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23 February 2020

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X-linked intellectual disability

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disability affecting intellectual abilities

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23 February 2020

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23 February 2020

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23 February 2020

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23 February 2020

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23 February 2020

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23 February 2020

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23 February 2020

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23 February 2020

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23 February 2020

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23 February 2020

Martin B Delatycki

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23 February 2020

Greta Gillies

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23 February 2020

Gabrielle R Wilson

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23 February 2020

Joe C H Sim

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Maila Giannandrea

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Charles A Galea

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Jessica R Riseley

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23 February 2020

Sarah E M Stephenson

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23 February 2020

Elizabeth Fitzpatrick

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23 February 2020

Kate Pope

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23 February 2020

Kirk J Hogan

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23 February 2020

Ronald G Gregg

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23 February 2020

Catherine J Bromhead

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23 February 2020

David S Wargowski

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23 February 2020

Christopher H Lawrence

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23 February 2020

Paul A James

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23 February 2020

Andrew Churchyard

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23 February 2020

Dean G Phelan

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23 February 2020

Nicholas Salce

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23 February 2020

Lynn Stanford

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Susan J Hayflick

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23 February 2020

Richard J Leventer

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Melanie Bahlo

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23 February 2020

language of work or name

English

0 references

publication date

26 November 2014

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American Journal of Human Genetics

23 February 2020

published in

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volume

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23 February 2020

issue

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23 February 2020

page(s)

729-735

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

23 February 2020

cites work

1 reference

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7 July 2018

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

7 July 2018

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Can we clinically diagnose dementia with Lewy bodies yet?

7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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

7 July 2018

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A tangled web - tau and sporadic Parkinson's disease

7 July 2018

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Role of Rab GTPases in membrane traffic and cell physiology

7 July 2018

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7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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

7 July 2018

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Clinical and genetic delineation of neurodegeneration with brain iron accumulation

7 July 2018

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Comparative protein structure modeling using Modeller

7 July 2018

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

7 July 2018

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

7 July 2018

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Interface between tauopathies and synucleinopathies: A tale of two proteins

7 July 2018

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

7 July 2018

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

7 July 2018

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7 July 2018

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7 July 2018

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Main-chain bond lengths and bond angles in protein structures

7 July 2018

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7 July 2018

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7 July 2018

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

7 July 2018

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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

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

26 October 2018

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26 October 2018

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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

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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