Article

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders

2025-07-08

Abstract excerpt

<h4>ABSTRACT</h4> ATP5F1A encodes the α-subunit of complex V of the respiratory chain, which is responsible for mitochondrial ATP synthesis. We describe 6 probands with heterozygous de novo missense ATP5F1A variants that presented with developmental delay, intellectual disability, and movement disorders. Functional evaluation in C. elegans revealed that all variants tested were damaging to gene function via a dom...

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Literature Corpus work: 74a9f877-be09-50df-9838-ccace3ff8cb5
DOI: 10.1101/2025.07.08.25330848

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