Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA-Reference-Cited by-同舟云学术

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA

Published:2017-09 Issue: Volume:36 Page:15-20
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Catarino Claudia B.,Ahting Uwe,Gusic Mirjana,Iuso Arcangela,Repp Birgit,Peters Katrin,Biskup Saskia,von Livonius Bettina,Prokisch Holger,Klopstock Thomas

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference12 articles.

1. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 mutations;Brown;Am. J. Med. Genet.,2001

2. Functional characterization of three concomitant mtDNA LHON mutations shows no synergistic effect on mitochondrial activity;Cruz-Bermúdez;PLoS One,2016

3. NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels;Haefeli;PLoS One,2011

4. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation;Harding;Am. J. Hum. Genet.,1995

5. Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations;Howell;J. Neuroophthalmol.,2002

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