Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993-Reference-Cited by-同舟云学术

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993

Published:2007-07 Issue:7 Volume:1767 Page:913-919
ISSN:0005-2728
Container-title:Biochimica et Biophysica Acta (BBA) - Bioenergetics
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Bioenergetics

Author:

Baracca Alessandra,Sgarbi Gianluca,Mattiazzi Marina,Casalena Gabriella,Pagnotta Eleonora,Valentino Maria L.,Moggio Maurizio,Lenaz Giorgio,Carelli Valerio,Solaini Giancarlo

Publisher

Elsevier BV

Subject

Cell Biology,Biochemistry,Biophysics

Reference29 articles.

1. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations;Morava;Am. J. Med. Genet.,2006

2. Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome;Makela-Bengs;Pediatr. Res.,1995

3. Biochemical–clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation;Carelli;Arch. Neurol.,2002

4. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA;Sgarbi;Biochem. J.,2006

5. Phenotypic differences between T>C and T>G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome;Fujii;Pediatr. Neurol.,1998

Cited by 92 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. Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase;Physiological Research;2024-08-31

2. Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies;International Journal of Molecular Sciences;2024-02-13

3. Hereditary mitochondrial diseases and mitochondrial transplantation;Mitochondrial Transplantation and Transfer;2024

4. Induced pluripotent stem cells derived from patients carrying mitochondrial mutations exhibit altered bioenergetics and aberrant differentiation potential;Stem Cell Research & Therapy;2023-11-07

5. Potential Harm of IQOS Smoke to Rat Liver;International Journal of Molecular Sciences;2023-08-05