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

Claudio D’Incal,Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings,Ellen Elinck, lllana Gozes, Zlatko Marusic, Mirna Anicic,Jurica Vukovic, Nathalie Van der Aa,Ligia Mateiu, Wim Vanden Berghe,R. Frank Kooy

Acta Neuropathologica Communications（2024）

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摘要

Helsmoortel–Van der Aa syndrome is a neurodevelopmental disorder in which patients present with autism, intellectual disability, and frequent extra-neurological features such as feeding and gastrointestinal problems, visual impairments, and cardiac abnormalities. All patients exhibit heterozygous de novo nonsense or frameshift stop mutations in the Activity-Dependent Neuroprotective Protein (ADNP) gene, accounting for a prevalence of 0.2

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关键词

Activity-dependent neuroprotective protein (ADNP),Methylation,Chromatin remodeler,Autophagy,Mitochondria,Post-mortem brain,Helsmoortel–Van der Aa syndrome,Sirtuin 1 (SIRT1)

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