Literature DB >> 25113787

Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease.

Kathrin Müller1, Peter M Andersen2, Annemarie Hübers1, Nicolai Marroquin3, Alexander E Volk4, Karin M Danzer1, Thomas Meitinger5, Albert C Ludolph6, Tim M Strom5, Jochen H Weishaupt7.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25113787     DOI： 10.1093/brain/awu227

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


× No keyword cloud information.
  44 in total

1.  Screening for CHCHD10 mutations in a large cohort of sporadic ALS patients: no evidence for pathogenicity of the p.P34S variant.

Authors:  Nicolai Marroquin; Sebastian Stranz; Kathrin Müller; Thomas Wieland; Wolfgang P Ruf; Sarah J Brockmann; Karin M Danzer; Guntram Borck; Annemarie Hübers; Patrick Weydt; Thomas Meitinger; Tim-Matthias Strom; Angela Rosenbohm; Albert C Ludolph; Jochen H Weishaupt
Journal:  Brain       Date:  2015-09-11       Impact factor: 13.501

2.  CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

Authors:  Samir Abdelkarim; Sarah Morgan; Vincent Plagnol; Ching-Hua Lu; Gary Adamson; Robin Howard; Andrea Malaspina; Richard Orrell; Nikhil Sharma; Katie Sidle; Jan Clarke; Nick C Fox; Martin N Rossor; Jason D Warren; Camilla N Clark; Jonathan D Rohrer; Elizabeth M C Fisher; Simon Mead; Alan Pittman; Pietro Fratta
Journal:  Brain       Date:  2015-09-11       Impact factor: 13.501

3.  CHCH10 mutations in an Italian cohort of familial and sporadic amyotrophic lateral sclerosis patients.

Authors:  Adriano Chiò; Gabriele Mora; Mario Sabatelli; Claudia Caponnetto; Bryan J Traynor; Janel O Johnson; Mike A Nalls; Andrea Calvo; Cristina Moglia; Giuseppe Borghero; Maria Rosaria Monsurrò; Vincenzo La Bella; Paolo Volanti; Isabella Simone; Fabrizio Salvi; Francesco O Logullo; Riva Nilo; Stefania Battistini; Jessica Mandrioli; Raffaella Tanel; Maria Rita Murru; Paola Mandich; Marcella Zollino; Francesca L Conforti; Maura Brunetti; Marco Barberis; Gabriella Restagno; Silvana Penco; Christian Lunetta
Journal:  Neurobiol Aging       Date:  2015-01-28       Impact factor: 4.673

Review 4.  Mitochondrial CHCHD-Containing Proteins: Physiologic Functions and Link with Neurodegenerative Diseases.

Authors:  Zhi-Dong Zhou; Wuan-Ting Saw; Eng-King Tan
Journal:  Mol Neurobiol       Date:  2016-09-08       Impact factor: 5.590

5.  Mutation Screening of the CHCHD10 Gene in Chinese Patients with Amyotrophic Lateral Sclerosis.

Authors:  QingQing Zhou; YongPing Chen; QianQian Wei; Bei Cao; Ying Wu; Bi Zhao; RuWei Ou; Jing Yang; XuePing Chen; Shinji Hadano; Hui-Fang Shang
Journal:  Mol Neurobiol       Date:  2016-04-07       Impact factor: 5.590

Review 6.  Amyotrophic lateral sclerosis: mechanisms and therapeutics in the epigenomic era.

Authors:  Ximena Paez-Colasante; Claudia Figueroa-Romero; Stacey A Sakowski; Stephen A Goutman; Eva L Feldman
Journal:  Nat Rev Neurol       Date:  2015-04-21       Impact factor: 42.937

7.  TDP-43 and PINK1 mediate CHCHD10S59L mutation-induced defects in Drosophila and in vitro.

Authors:  Minwoo Baek; Yun-Jeong Choe; Sylvie Bannwarth; JiHye Kim; Swati Maitra; Gerald W Dorn; J Paul Taylor; Veronique Paquis-Flucklinger; Nam Chul Kim
Journal:  Nat Commun       Date:  2021-03-26       Impact factor: 14.919

8.  CHCHD10-regulated OPA1-mitofilin complex mediates TDP-43-induced mitochondrial phenotypes associated with frontotemporal dementia.

Authors:  Tian Liu; Jung-A A Woo; Mohammed Zaheen Bukhari; Patrick LePochat; Ann Chacko; Maj-Linda B Selenica; Yan Yan; Peter Kotsiviras; Sara Cazzaro Buosi; Xingyu Zhao; David E Kang
Journal:  FASEB J       Date:  2020-05-05       Impact factor: 5.191

9.  The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction.

Authors:  Neeraja Purandare; Mallika Somayajulu; Maik Hüttemann; Lawrence I Grossman; Siddhesh Aras
Journal:  J Biol Chem       Date:  2018-03-14       Impact factor: 5.157

10.  Identification of CHCHD10 Mutation in Chinese Patients with Alzheimer Disease.

Authors:  Tingting Xiao; Bin Jiao; Weiwei Zhang; Chuzheng Pan; Jingya Wei; Xiaoyan Liu; Yafang Zhou; Lin Zhou; Beisha Tang; Lu Shen
Journal:  Mol Neurobiol       Date:  2016-08-30       Impact factor: 5.590
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.