Literature DB >> 28457580

TMEM230 in Parkinson's disease.

Laura Ibanez1, Umber Dube2, John Budde1, Kathleen Black1, Alexandra Medvedeva1, Albert A Davis3, Joel S Perlmutter3, Bruno A Benitez4, Carlos Cruchaga5.   

Abstract

A study on familial Parkinson disease (PD) described 4 variants in the gene TMEM230 (Chr. 20p13) as the cause of PD. The aim of this study was to test if variants in the TMEM230 gene are associated with PD in 2 independent American European data sets. No variants in the TMEM230 region were found associated with PD, age at onset, or cerebrospinal fluid α-synuclein levels.
Copyright © 2017 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  GWAS; Parkinson; TMEM230; WES

Mesh：

Substances：

Year:  2017        PMID： 28457580      PMCID： PMC5526081          DOI： 10.1016/j.neurobiolaging.2017.03.014

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  23 in total

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2.  DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.

Authors:  Jia Nee Foo; Herty Liany; Louis C Tan; Wing-Lok Au; Kumar-M Prakash; Jianjun Liu; Eng-King Tan
Journal:  Neurobiol Aging       Date:  2013-10-12       Impact factor: 4.673

3.  TMEM230 stop codon mutation is rare in parkinson's disease and essential tremor in eastern China.

Authors:  Ya-Chao He; Pei Huang; Qiong-Qiong Li; Qian Sun; Dun-Hui Li; Tian Wang; Jun-Yi Shen; Sheng-Di Chen
Journal:  Mov Disord       Date:  2016-11-21       Impact factor: 10.338

4.  Screening for impulse control symptoms in patients with de novo Parkinson disease: a case-control study.

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Review 5.  The genetic background of Parkinson's disease: current progress and future prospects.

Authors:  K Kalinderi; S Bostantjopoulou; L Fidani
Journal:  Acta Neurol Scand       Date:  2016-02-12       Impact factor: 3.209

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Authors:  A J Hughes; S E Daniel; L Kilford; A J Lees
Journal:  J Neurol Neurosurg Psychiatry       Date:  1992-03       Impact factor: 10.154

7.  DNAJC13 mutations in Parkinson disease.

Authors:  Carles Vilariño-Güell; Alex Rajput; Austen J Milnerwood; Brinda Shah; Chelsea Szu-Tu; Joanne Trinh; Irene Yu; Mary Encarnacion; Lise N Munsie; Lucia Tapia; Emil K Gustavsson; Patrick Chou; Igor Tatarnikov; Daniel M Evans; Frederick T Pishotta; Mattia Volta; Dayne Beccano-Kelly; Christina Thompson; Michelle K Lin; Holly E Sherman; Heather J Han; Bruce L Guenther; Wyeth W Wasserman; Virginie Bernard; Colin J Ross; Silke Appel-Cresswell; A Jon Stoessl; Christopher A Robinson; Dennis W Dickson; Owen A Ross; Zbigniew K Wszolek; Jan O Aasly; Ruey-Meei Wu; Faycal Hentati; Rachel A Gibson; Peter S McPherson; Martine Girard; Michele Rajput; Ali H Rajput; Matthew J Farrer
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8.  Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.

Authors:  Albert A Davis; Kristin M Andruska; Bruno A Benitez; Brad A Racette; Joel S Perlmutter; Carlos Cruchaga
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Authors:  Christopher C Chang; Carson C Chow; Laurent Cam Tellier; Shashaank Vattikuti; Shaun M Purcell; James J Lee
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10.  Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease.

Authors:  Bruno A Benitez; Albert A Davis; Sheng Chih Jin; Laura Ibanez; Sara Ortega-Cubero; Pau Pastor; Jiyoon Choi; Breanna Cooper; Joel S Perlmutter; Carlos Cruchaga
Journal:  Mol Neurodegener       Date:  2016-04-19       Impact factor: 14.195
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  4 in total

Review 1.  Genetics of Parkinson's disease: An introspection of its journey towards precision medicine.

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Journal:  Neurobiol Dis       Date:  2020-01-25       Impact factor: 5.996

Review 2.  The Role of TMEM230 Gene in Parkinson's Disease.

Authors:  Hao Deng; Kuan Fan; Joseph Jankovic
Journal:  J Parkinsons Dis       Date:  2018       Impact factor: 5.568

3.  Characterization of Parkinson's disease-related pathogenic TMEM230 mutants.

Authors:  Daleum Nam; Hyejung Kim; Dong-Joo Choi; Yun-Hee Bae; Byoung Dae Lee; Ilhong Son; Wongi Seol
Journal:  Anim Cells Syst (Seoul)       Date:  2018-03-22       Impact factor: 1.815

4.  TMEM230 in Parkinson's disease in a southern Spanish population.

Authors:  Cristina Tejera-Parrado; Silvia Jesús; Adrián López-Ruíz; Dolores Buiza-Rueda; Marta Bonilla-Toribio; Inmaculada Bernal-Bernal; María Teresa Periñán; Laura Vargas-González; Pilar Gómez-Garre; Pablo Mir
Journal:  PLoS One       Date:  2018-05-17       Impact factor: 3.240
  4 in total

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