Literature DB >> 26708275

MATR3 mutation analysis in a Chinese cohort with sporadic amyotrophic lateral sclerosis.

Lianping Xu1, Jiao Li1, Lu Tang1, Nan Zhang1, Dongsheng Fan2.   

Abstract

Several recent studies have reported that the MATR3 gene is associated with the risk of amyotrophic lateral sclerosis (ALS). We sequenced the MATR3 gene in 509 unrelated Chinese sporadic ALS patients and 560 control subjects. We identified a novel missense mutation p.Ser610Phe in one patient. We also detected 3 missense variants (p.Ala313Gly, p.Arg147Lys, and p.Gln347Lys) in 3 of the 560 healthy controls. Our results suggest that MATR3 may not be a common genetic factor in Chinese ALS patients.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Amyotrophic lateral sclerosis; Chinese population; MATR3 gene; Novel mutation

Mesh：

Substances：

Year:  2015        PMID： 26708275     DOI： 10.1016/j.neurobiolaging.2015.11.023

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


  13 in total

1.  Identification and characterization of novel and rare susceptible variants in Indian amyotrophic lateral sclerosis patients.

Authors:  Priyam Narain; Aditya K Padhi; Upma Dave; Dibyakanti Mishra; Rohit Bhatia; Perumal Vivekanandan; James Gomes
Journal:  Neurogenetics       Date:  2019-08-20       Impact factor: 2.660

Review 2.  Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications.

Authors:  Ruth Chia; Adriano Chiò; Bryan J Traynor
Journal:  Lancet Neurol       Date:  2017-11-16       Impact factor: 44.182

Review 3.  The epidemiology and genetics of Amyotrophic lateral sclerosis in China.

Authors:  Xiaolu Liu; Ji He; Fen-Biao Gao; Aaron D Gitler; Dongsheng Fan
Journal:  Brain Res       Date:  2018-03-01       Impact factor: 3.610

4.  Analysis of SOD1 mutations in a Chinese population with amyotrophic lateral sclerosis: a case-control study and literature review.

Authors:  QianQian Wei; QingQing Zhou; YongPing Chen; RuWei Ou; Bei Cao; YaQian Xu; Jing Yang; Hui-Fang Shang
Journal:  Sci Rep       Date:  2017-03-14       Impact factor: 4.379

5.  The rs696880 Polymorphism in the Nogo-A Receptor Gene (RTN4R) Is Associated With Susceptibility to Sporadic Amyotrophic Lateral Sclerosis in the Chinese Population.

Authors:  Lianping Xu; Jiao Li; Danyang Tian; Lu Chen; Lu Tang; Dongsheng Fan
Journal:  Front Aging Neurosci       Date:  2018-04-12       Impact factor: 5.750

Review 6.  RNA-Binding Proteins in Amyotrophic Lateral Sclerosis.

Authors:  Melody Zhao; Jihye Rachel Kim; Rebekah van Bruggen; Jeehye Park
Journal:  Mol Cells       Date:  2018-08-29       Impact factor: 5.034

Review 7.  Linking hnRNP Function to ALS and FTD Pathology.

Authors:  Maria D Purice; J Paul Taylor
Journal:  Front Neurosci       Date:  2018-05-15       Impact factor: 4.677

8.  ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export.

Authors:  Ashley Boehringer; Krystine Garcia-Mansfield; Gurkaran Singh; Nadine Bakkar; Patrick Pirrotte; Robert Bowser
Journal:  Sci Rep       Date:  2017-11-06       Impact factor: 4.379

9.  Matrin 3-dependent neurotoxicity is modified by nucleic acid binding and nucleocytoplasmic localization.

Authors:  Ahmed M Malik; Roberto A Miguez; Xingli Li; Ye-Shih Ho; Eva L Feldman; Sami J Barmada
Journal:  Elife       Date:  2018-07-17       Impact factor: 8.140

Review 10.  Role of RNA Binding Proteins with prion-like domains in muscle and neuromuscular diseases.

Authors:  Gina Picchiarelli; Luc Dupuis
Journal:  Cell Stress       Date:  2020-03-10
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