A novel homozygous mutation in SUCLA2 gene identified by exome sequencing-Reference-Cited by-同舟云学术

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

Published:2012-11 Issue:3 Volume:107 Page:403-408
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lamperti Costanza,Fang Mingyan,Invernizzi Federica,Liu Xuanzhu,Wang Hairong,Zhang Qing,Carrara Franco,Moroni Isabella,Zeviani Massimo,Zhang Jianguo,Ghezzi Daniele

Funder

Pierfranco and Luisa Mariani Foundation of Italy

Fondazione Telethon

CARIPLO

Italian Ministry of Health

Italian Association of Mitochondrial Disease Patients and Families (Mitocon)

Publisher

Elsevier BV

Reference24 articles.

1. Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood;Sarzi;J. Pediatr.,2007

2. Disorders from perturbations of nuclear mitochondrial intergenomic cross-talk;Spinazzola;J. Intern. Med.,2009

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

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

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

Cited by 37 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. Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings;Frontiers in Neurology;2024-07-11

2. Succinyl-CoA Synthetase Dysfunction as a Mechanism of Mitochondrial Encephalomyopathy: More than Just an Oxidative Energy Deficit;International Journal of Molecular Sciences;2023-06-27

3. Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases;Orphanet Journal of Rare Diseases;2021-10-09

4. Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network;Italian Journal of Pediatrics;2020-09-14

5. Breaking the cycle;Neurology Neuroimmunology & Neuroinflammation;2019-05