Literature DB >> 25833818

Mutation analysis of CHCHD10 in different neurodegenerative diseases.

Ming Zhang1, Zhengrui Xi1, Lorne Zinman2, Amalia C Bruni3, Raffaele G Maletta3, Sabrina A M Curcio3, Innocenzo Rainero4, Elisa Rubino4, Lorenzo Pinessi4, Benedetta Nacmias5, Sandro Sorbi5, Daniela Galimberti6, Anthony E Lang7, Susan Fox7, Ezequiel I Surace8, Mahdi Ghani1, Jing Guo1, Christine Sato1, Danielle Moreno1, Yan Liang1, Julia Keith2, Bryan J Traynor9, Peter St George-Hyslop10, Ekaterina Rogaeva11.   

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Year:  2015        PMID： 25833818      PMCID： PMC4547051          DOI： 10.1093/brain/awv082

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


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  10 in total

Review 1.  Mitochondria and ALS: implications from novel genes and pathways.

Authors:  Mauro Cozzolino; Alberto Ferri; Cristiana Valle; Maria Teresa Carrì
Journal:  Mol Cell Neurosci       Date:  2012-06-15       Impact factor: 4.314

2.  Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

Authors:  Annabelle Chaussenot; Isabelle Le Ber; Samira Ait-El-Mkadem; Agnès Camuzat; Anne de Septenville; Sylvie Bannwarth; Emmanuelle C Genin; Valérie Serre; Gaëlle Augé; Alexis Brice; Jean Pouget; Véronique Paquis-Flucklinger
Journal:  Neurobiol Aging       Date:  2014-07-24       Impact factor: 4.673

3.  CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

Authors:  Manabu Funayama; Kenji Ohe; Taku Amo; Norihiko Furuya; Junji Yamaguchi; Shinji Saiki; Yuanzhe Li; Kotaro Ogaki; Maya Ando; Hiroyo Yoshino; Hiroyuki Tomiyama; Kenya Nishioka; Kazuko Hasegawa; Hidemoto Saiki; Wataru Satake; Kaoru Mogushi; Ryogen Sasaki; Yasumasa Kokubo; Shigeki Kuzuhara; Tatsushi Toda; Yoshikuni Mizuno; Yasuo Uchiyama; Kinji Ohno; Nobutaka Hattori
Journal:  Lancet Neurol       Date:  2015-02-04       Impact factor: 44.182

4.  CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis.

Authors:  Dario Ronchi; Giulietta Riboldi; Roberto Del Bo; Nicola Ticozzi; Marina Scarlato; Daniela Galimberti; Stefania Corti; Vincenzo Silani; Nereo Bresolin; Giacomo Pietro Comi
Journal:  Brain       Date:  2015-01-08       Impact factor: 13.501

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

Authors:  Kathrin Müller; Peter M Andersen; Annemarie Hübers; Nicolai Marroquin; Alexander E Volk; Karin M Danzer; Thomas Meitinger; Albert C Ludolph; Tim M Strom; Jochen H Weishaupt
Journal:  Brain       Date:  2014-08-11       Impact factor: 13.501

6.  Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis.

Authors:  Janel O Johnson; Shannon M Glynn; J Raphael Gibbs; Mike A Nalls; Mario Sabatelli; Gabriella Restagno; Vivian E Drory; Adriano Chiò; Ekaterina Rogaeva; Bryan J Traynor
Journal:  Brain       Date:  2014-09-26       Impact factor: 13.501

Review 7.  Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases.

Authors:  Michael T Lin; M Flint Beal
Journal:  Nature       Date:  2006-10-19       Impact factor: 49.962

8.  Late onset spinal motor neuronopathy is caused by mutation in CHCHD10.

Authors:  Sini Penttilä; Manu Jokela; Heidi Bouquin; Anna Maija Saukkonen; Jari Toivanen; Bjarne Udd
Journal:  Ann Neurol       Date:  2014-12-12       Impact factor: 10.422

9.  Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.

Authors:  Senda Ajroud-Driss; Faisal Fecto; Kaouther Ajroud; Irfan Lalani; Sarah E Calvo; Vamsi K Mootha; Han-Xiang Deng; Nailah Siddique; Albert J Tahmoush; Terry D Heiman-Patterson; Teepu Siddique
Journal:  Neurogenetics       Date:  2014-09-06       Impact factor: 2.660

10.  A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement.

Authors:  Sylvie Bannwarth; Samira Ait-El-Mkadem; Annabelle Chaussenot; Emmanuelle C Genin; Sandra Lacas-Gervais; Konstantina Fragaki; Laetitia Berg-Alonso; Yusuke Kageyama; Valérie Serre; David G Moore; Annie Verschueren; Cécile Rouzier; Isabelle Le Ber; Gaëlle Augé; Charlotte Cochaud; Françoise Lespinasse; Karine N'Guyen; Anne de Septenville; Alexis Brice; Patrick Yu-Wai-Man; Hiromi Sesaki; Jean Pouget; Véronique Paquis-Flucklinger
Journal:  Brain       Date:  2014-06-16       Impact factor: 13.501
  10 in total
  37 in total

1.  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

Review 2.  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

3.  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

4.  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

5.  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

6.  Erratum to: 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:  2017-09       Impact factor: 5.590

Review 7.  Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Suvi Häkkinen; Stephanie A Chu; Suzee E Lee
Journal:  Neurobiol Dis       Date:  2020-09-02       Impact factor: 5.996

8.  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

9.  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

10.  In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.

Authors:  S R Burstein; F Valsecchi; H Kawamata; M Bourens; R Zeng; A Zuberi; T A Milner; S M Cloonan; C Lutz; A Barrientos; G Manfredi
Journal:  Hum Mol Genet       Date:  2018-01-01       Impact factor: 6.150
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