MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load-Reference-Cited by-同舟云学术

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MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Published:2018-04 Issue: Volume:30 Page:86-93
ISSN:2352-3964
Container-title:EBioMedicine
language:en
Short-container-title:EBioMedicine

Author:

Ng Yi Shiau,Lax Nichola Z.,Maddison Paul,Alston Charlotte L.,Blakely Emma L.,Hepplewhite Philippa D.,Riordan Gillian,Meldau Surita,Chinnery Patrick F.,Pierre Germaine,Chronopoulou Efstathia,Du Ailian,Hughes Imelda,Morris Andrew A.,Kamakari Smaragda,Chrousos Georgia,Rodenburg Richard J.,Saris Christiaan G.J.,Feeney Catherine,Hardy Steven A.,Sakakibara Takafumi,Sudo Akira,Okazaki Yasushi,Murayama Kei,Mundy Helen,Hanna Michael G.,Ohtake Akira,Schaefer Andrew M.,Champion Mike P.,Turnbull Doug M.,Taylor Robert W.,Pitceathly Robert D.S.,McFarland Robert,Gorman Gráinne S.^ORCID

Funder

The Wellcome Trust

Newcastle University Centre for Ageing and Vitality

Biotechnology and Biological Sciences Research Council and Medical Research Council

UK Medical Research Council

MRC Centre of Neuromuscular diseases

National Institute for Health Research

Medical Research Council Centre

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference30 articles.

1. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency;Ahmed;Sci. Rep.,2017

2. A novel mitochondrial MTND5 frameshift mutation causing isolated complex I deficiency, renal failure and myopathy;Alston;Neuromuscul. Disord.,2010

3. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders;Bannwarth;J. Med. Genet.,2013

4. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease;Blakely;Hum. Mutat.,2013

5. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease;Blok;J. Med. Genet.,2007

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4. Effects of acute low-moderate dose ionizing radiation to human brain organoids;PLOS ONE;2023-05-31

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