Analysis of MT-ATP8 gene variants reported in patients by modeling in silico and in yeast model organism

Defects in ATP synthase functioning due to the substitutions in its two mitochondrially encoded subunits a and 8 lead to untreatable mitochondrial diseases. Defining the character of variants in genes encoding these subunits is challenging due to their low frequency, heteroplasmy of mitochondrial DN...

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Detalles Bibliográficos
Autores principales: Panja, Chiranjit, Niedzwiecka, Katarzyna, Baranowska, Emilia, Poznanski, Jaroslaw, Kucharczyk, Roza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10282124/
https://www.ncbi.nlm.nih.gov/pubmed/37340059
http://dx.doi.org/10.1038/s41598-023-36637-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10282124/
https://www.ncbi.nlm.nih.gov/pubmed/37340059
http://dx.doi.org/10.1038/s41598-023-36637-9

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