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

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

Abstract Background 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 exh...

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Main Authors: Claudio D’Incal, Anke Van Dijck, Joe Ibrahim, Kevin De Man, Lina Bastini, Anthony Konings, Ellen Elinck, Claudia Theys, Illana Gozes, Zlatko Marusic, Mirna Anicic, Jurica Vukovic, Nathalie Van der Aa, Ligia Mateiu, Wim Vanden Berghe, R. Frank Kooy
格式: 文件
语言:English
出版: BMC 2024-04-01
丛编:Acta Neuropathologica Communications
主题:
Activity-dependent neuroprotective protein (ADNP)
Methylation
Chromatin remodeler
Autophagy
Mitochondria
Post-mortem brain
在线阅读:https://doi.org/10.1186/s40478-024-01743-w

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https://doi.org/10.1186/s40478-024-01743-w

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