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Titel:

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

Dokumenttyp:
Journal Article
Autor(en):
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...     »
Zeitschriftentitel:
Biochim Biophys Acta Mol Basis Dis
Jahr:
2024
Band / Volume:
1870
Heft / Issue:
5
Volltext / DOI:
doi:10.1016/j.bbadis.2024.167131
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/38521420
Print-ISSN:
0925-4439
TUM Einrichtung:
Klinik und Poliklinik für Neurologie (Prof. Hemmer)
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