Article

Neurodegenerative and functional signatures of the cerebellar cortex in m.3243A>G patients

2021-04-30

Abstract excerpt

Mutations of the mitochondrial DNA are an important cause of inherited diseases that can severely affect the tissue’s homeostasis and integrity. The m.3243A>G mutation is the most commonly observed across mitochondrial disorders and is linked to multisystemic complications, including cognitive deficits. In line with in vitro experiments demonstrating the m.3243A>G’s negative impact on neuronal energy production an...

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Literature Corpus work: dcb0a259-a2c4-594c-96a4-ecc003cfc8f0
DOI: 10.1101/2021.04.30.442091

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