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Article

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

Scientific reports - 20 Jun 2023

Panja Chiranjit, Niedzwiecka Katarzyna, Baranowska Emilia, Poznanski Jaroslaw, Kucharczyk Roza

Abstract excerpt

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 DNA in patients' cells and polymorphisms of mitochondrial genome. We successfully used yeast S. cerevisiae as a model...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 37340059
DOI: 10.1038/s41598-023-36637-9
PMCID: PMC10282124

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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