Sara DaCunha
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View article: Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders Open
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, …
View article: Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders
Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders Open
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, …