Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

Mutations in mitochondrial DNA encoded subunit of ATP synthase, MT-ATP6, are frequent causes of neurological mitochondrial diseases with a range of phenotypes from Leigh syndrome and NARP to ataxias and neuropathies. Here we investigated the functional consequences of an unusual heteroplasmic trunca...

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Detalles Bibliográficos
Autores principales: Kenvin, Sebastian, Torregrosa-Muñumer, Ruben, Reidelbach, Marco, Pennonen, Jana, Turkia, Jeremi J, Rannila, Erika, Kvist, Jouni, Sainio, Markus T, Huber, Nadine, Herukka, Sanna-Kaisa, Haapasalo, Annakaisa, Auranen, Mari, Trokovic, Ras, Sharma, Vivek, Ylikallio, Emil, Tyynismaa, Henna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8947243/
https://www.ncbi.nlm.nih.gov/pubmed/34635923
http://dx.doi.org/10.1093/hmg/ddab299

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