A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders-Reference-Cited by-同舟云学术

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A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders

Published:2024-06 Issue:5 Volume:1870 Page:167131
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Vincent Amy E.,Chen Chun,Gomes Tiago Bernardino,Di Leo Valeria,Laalo Tuomas,Pabis Kamil,Capaldi Rodrick,Marusich Michael F.,McDonald David,Filby Andrew,Fuller Andrew,Lehmann Urban Diana,Zierz Stephan,Deschauer Marcus,Turnbull Doug,Reeve Amy K.,Lawless Conor

Funder

Newcastle University - Newcastle Campus

Publisher

Elsevier BV

Reference35 articles.

1. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease;Kornblum;Nat. Genet.,2013

2. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions;Tyynismaa;Hum. Mol. Genet.,2011

3. Human mitochondrial DNA deletions associated with mutations in the gene encoding twinkle, a phage T7 gene 4-like protein localized in mitochondria;Spelbrink;Nat. Genet.,2001

4. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions;Van Goethem;Nat. Genet.,2001

5. Mitochondrial threshold effects;Rossignol;Biochem. J.,2003

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