The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy-Reference-Cited by-同舟云学术

The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy

Published:2016-04-22 Issue:20 Volume:86 Page:1921-1923
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Dombi Eszter,Diot Alan,Morten Karl,Carver Janet,Lodge Tiffany,Fratter Carl,Ng Yi Shiau,Liao Chunyan,Muir Rebecca,Blakely Emma L.,Hargreaves Iain,Al-Dosary Mazhor,Sarkar Gopa,Hickman Simon J.,Downes Susan M.,Jayawant Sandeep,Yu-Wai-Man Patrick,Taylor Robert W.,Poulton Joanna

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference7 articles.

1. Leber hereditary optic neuropathy

2. Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy

3. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

4. A novel quantitative assay of mitophagy: Combining high content fluorescence microscopy and mitochondrial DNA load to quantify mitophagy and identify novel pharmacological tools against pathogenic heteroplasmic mtDNA

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1. Impaired mitochondrial morphological plasticity and failure of mitophagy associated with the G11778A mutation of LHON;Biochemical and Biophysical Research Communications;2024-08

2. A Japanese Case of Leber’s Hereditary Optic Neuropathy with the m.13051G>A Pathogenic Variant;Neuro-Ophthalmology;2023-10-31

3. Clinical Approaches for Mitochondrial Diseases;Cells;2023-10-20

4. Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects;International Journal of Molecular Sciences;2023-08-08

5. Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy;Cell Reports;2022-07