Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome-Reference-Cited by-同舟云学术

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome

Published:2024-02-29 Issue:6 Volume:32 Page:630-638
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

D’Incal Claudio Peter^ORCID,Annear Dale John,Elinck Ellen,van der Smagt Jasper J.,Alders Mariëlle,Dingemans Alexander J. M.,Mateiu Ligia,de Vries Bert B. A.^ORCID,Vanden Berghe Wim^ORCID,Kooy R. Frank^ORCID

Funder

Research Fund of the University of Antwerp OEC-Methusalem grant 'GENOMED" ERA-NET NEURON "ADNP in MED" International Nucleosome Consortium (COST) network

Research Fund of the University of Antwerp OEC-Methusalem grant 'GENOMED" ERA-NET NEURON "ADNP in MED"

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41431-024-01556-4.pdf

Reference23 articles.

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2. Mandel S, Rechavi G, Gozes I. Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis. Dev Biol. 2007;303:814–24.

3. Mandel S, Gozes I. Activity-dependent neuroprotective protein constitutes a novel element in the SWI/SNF chromatin remodeling complex. J Biol Chem. 2007;282:34448–56.

4. Ostapcuk V, Mohn F, Carl SH, Basters A, Hess D, Iesmantavicius V, et al. Activity-dependent neuroprotective protein recruits HP1 and CHD4 to control lineage-specifying genes. Nature. 2018;557:739–43.

5. D’Incal CP, Van Rossem KE, De Man K, Konings A, Van Dijck A, Rizzuti L, et al. Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism. Clin Epigenetics. 2023;15:45.

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