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Article

A role for BCL2L13 and autophagy in germline purifying selection of mtDNA.

PLoS genetics - 1 Jan 2023

Kremer Laura S, Bozhilova Lyuba V, Rubalcava-Gracia Diana, Filograna Roberta, Upadhyay Mamta, Koolmeister Camilla, Chinnery Patrick F, Larsson Nils-Göran

Abstract excerpt

Mammalian mitochondrial DNA (mtDNA) is inherited uniparentally through the female germline without undergoing recombination. This poses a major problem as deleterious mtDNA mutations must be eliminated to avoid a mutational meltdown over generations. At least two mechanisms that can decrease the mutation load during maternal transmission are operational: a stochastic bottleneck for mtDNA transmission from mother...

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Identifiers

PMID: 36608143
DOI: 10.1371/journal.pgen.1010573
PMCID: PMC9851501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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