Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms

L Larizza, P Finelli - Clinical Genetics, 2019 - Wiley Online Library
… A large number of monogenic DD/ID syndromes share chromatin dysregulation as … signs,69
or within the CH1 domain, showing autistic-like features70 usually manifested by a minority …

[HTML][HTML] The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes

M Gabriele, AL Tobon, G D'Agostino, G Testa - Progress in Neuro …, 2018 - Elsevier
… These observations place chromatin dysfunction at the top of … Here we undertake a conceptual
investigation of chromatin … of NDD-causing chromatin dysregulation, with a special focus …

PATIENT-SPECIFIC MODELLING OF SYNDROMIC AUTISM: UNCOVERING THE ROLE OF ADNP IN CHROMATIN DYSREGULATION

L Rizzuti - 2022 - tesidottorato.depositolegale.it
Syndrome (HVDAS), a rare developmental syndrome affecting brain formation and neuronal
functions, involving autism … ASD, its precise role in the syndrome onset has yet to be clarified…

[HTML][HTML] Molecular dysregulation in autism spectrum disorder

PS Gill, JL Clothier, A Veerapandiyan… - Journal of Personalized …, 2021 - mdpi.com
syndrome of early infantile autism in children aged two to eight years. Todate, the genetic
heterogeneity of this syndrome … A number of pathways dysregulated in ASD, involve chromatin

Non-coding de novo mutations in chromatin interactions are implicated in autism spectrum disorder

IB Kim, T Lee, J Lee, J Kim, S Lee, IG Koh, JH Kim… - Molecular …, 2022 - nature.com
… as category 1–3, and syndromic from the SFARI. To … dysregulation, regardless of their
chromatin interactions. Among non-coding DNMs inside DHSs, we selected those not in chromatin

[HTML][HTML] Abnormal chromatin folding in the molecular pathogenesis of epilepsy and autism spectrum disorder: a meta-synthesis with systematic searching

O Davis - Molecular Neurobiology, 2023 - Springer
… elements become transcriptionally dysregulated. In a study of William-Beuren syndrome, in
which … between CNV and dysregulated gene expression through altered chromatin topology. …

[HTML][HTML] Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

CP D'Incal, KE Van Rossem, K De Man, A Konings… - Clinical …, 2023 - Springer
… to autism cluster on a relatively limited number of cellular pathways, including chromatin
remodeling. … genes in syndromic autism the Activity-Dependent Neuroprotective Protein (ADNP). …

[HTML][HTML] Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression

EL Casanova, JL Sharp, H Chakraborty, NS Sumi… - Molecular autism, 2016 - Springer
… regulators, ubiquitin ligases, and other chromatin remodelers, which comprised over half of
that … theme to autism [30]. Our present results indicate that epigenetic dysregulation could …

Epigenetics of autism spectrum disorder: Histone deacetylases

CEJ Tseng, CJ McDougle, JM Hooker, NR Zürcher - Biological psychiatry, 2022 - Elsevier
… These epigenetic modifications, which appear dysregulated in ASD, lead to chromatin … In
addition, the MeCP2 protein, which is lacking in Rett syndrome, binds to Prader-Willi syndrome

Dysregulation of the chromatin environment leads to differential alternative splicing as a mechanism of disease in a human model of autism spectrum disorder

CS Leung, SJ Rosenzweig, B Yoon… - Human Molecular …, 2023 - academic.oup.com
… These pathways are concordant with co-morbidities present in syndromic autism.
Furthermore, overlapping DEG- and DTU-ASD-specific risk genes showed similar enrichment (…