ADNP dysregulates methylation and mitochondrial gene expression in the cerebellum of a Helsmoortel-Van der Aa syndrome autopsy case.

Claudio Peter D'IncalAnke Van DijckJoe IbrahimKevin De ManLina BastiniAnthony KoningsEllen ElinckLllana GozesZlatko MarusicMirna AnicicJurica VukovicNathalie Van der AaLigia MateiuWim Vanden BergheR Frank Kooy

Published in: Acta neuropathologica communications (2024)

This study forms the baseline clinical and molecular characterization of an ADNP autopsy cerebellum, providing novel insights in the disease mechanisms of the Helsmoortel-Van der Aa syndrome. By combining multi-omic and biochemical approaches, we identified a novel SIRT1-EB1/EB3-ADNP protein complex which may contribute to autophagic flux alterations and impaired mitochondrial metabolism in the Helsmoortel-Van der Aa syndrome and holds promise as a new therapeutic target.

Keyphrases

gene expression
oxidative stress
case report
dna methylation
ischemia reperfusion injury
small molecule
machine learning
deep learning