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 KooyPublished 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.