Publications by authors named "Ann-Sophie Kiesel"
Front Neurosci
November 2024
Article Synopsis
- Pathogenic variants in a specific gene cluster are linked to various neurodevelopmental disorders, presenting symptoms such as developmental delays, low muscle tone, and heart issues.
- This gene codes for a mitochondrial ATPase, which plays an unclear role in mitochondrial diseases commonly seen in children.
- Mouse models with both loss-of-function and overexpression of pathogenic variants have helped researchers explore the gene's function and understand the related diseases better.
