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Title:

A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.

Document type:
Journal Article
Author(s):
Vincent, Amy E; Chen, Chun; Gomes, Tiago Bernardino; Di Leo, Valeria; Laalo, Tuomas; Pabis, Kamil; Capaldi, Rodrick; Marusich, Michael F; McDonald, David; Filby, Andrew; Fuller, Andrew; Lehmann Urban, Diana; Zierz, Stephan; Deschauer, Marcus; Turnbull, Doug; Reeve, Amy K; Lawless, Conor
Abstract:
Mitochondrial DNA (mtDNA) deletions which clonally expand in skeletal muscle of patients with mtDNA maintenance disorders, impair mitochondrial oxidative phosphorylation dysfunction. Previously we have shown that these mtDNA deletions arise and accumulate in perinuclear mitochondria causing localised mitochondrial dysfunction before spreading through the muscle fibre. We believe that mito-nuclear signalling is a key contributor in the accumulation and spread of mtDNA deletions, and that knowledg...     »
Journal title abbreviation:
Biochim Biophys Acta Mol Basis Dis
Year:
2024
Journal volume:
1870
Journal issue:
5
Fulltext / DOI:
doi:10.1016/j.bbadis.2024.167131
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/38521420
Print-ISSN:
0925-4439
TUM Institution:
Klinik und Poliklinik für Neurologie (Prof. Hemmer)
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