Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood-Reference-Cited by-同舟云学术

Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood

Published:2007-05 Issue:5 Volume:150 Page:531-534.e6
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Sarzi Emmanuelle,Bourdon Alice,Chrétien Dominique,Zarhrate Mohamed,Corcos Johanna,Slama Abdelhamid,Cormier-Daire Valérie,de Lonlay Pascale,Munnich Arnold,Rötig Agnès

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference23 articles.

1. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases;Moraes;Am J Hum Genet,1991

2. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA;Mandel;Nat Genet,2001

3. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy;Saada;Nat Genet,2001

4. POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion;Naviaux;Ann Neurol,2004

5. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion;Elpeleg;Am J Hum Genet,2005

Cited by 144 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Natural history of deoxyguanosine kinase deficiency;Molecular Genetics and Metabolism;2024-09

2. Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency;Neurology Genetics;2024-08

3. Genetic aetiologies of acute liver failure;Journal of Inherited Metabolic Disease;2024-03-18

4. Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromes;Journal of Biosciences;2024-02-19

5. Structural basis for DNA proofreading;Nature Communications;2023-12-27