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
Background Individuals affected with autism often suffer additional co-morbidities such as
intellectual disability. The genes contributing to autism cluster on a relatively limited number …

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders

EI Lewerissa, N Nadif Kasri, K Linda - Autophagy, 2024 - Taylor & Francis
Macroautophagy/autophagy is an evolutionarily highly conserved catabolic process that is
important for the clearance of cytosolic contents to maintain cellular homeostasis and …

Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

B Mossink, AHA Verboven, EJH van Hugte… - Stem cell reports, 2021 - cell.com
Micro-electrode arrays (MEAs) are increasingly used to characterize neuronal network
activity of human induced pluripotent stem cell (hiPSC)-derived neurons. Despite their gain …

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

A Kaspi, MS Hildebrand, VE Jackson, R Braden… - Molecular …, 2023 - nature.com
Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is
characterized by motor programming and planning deficits. Genetic factors make …

Polycomb-dependent histone H2A ubiquitination links developmental disorders with cancer

S Tamburri, E Conway, D Pasini - Trends in Genetics, 2022 - cell.com
Cell identity is tightly controlled by specific transcriptional programs which require post-
translational modifications of histones. These histone modifications allow the establishment …

[HTML][HTML] Allostery, and how to define and measure signal transduction

R Nussinov, CJ Tsai, H Jang - Biophysical chemistry, 2022 - Elsevier
Here we ask: What is productive signaling? How to define it, how to measure it, and most of
all, what are the parameters that determine it? Further, what determines the strength of …

Novel epigenetic molecular therapies for imprinting disorders

SE Wang, Y Jiang - Molecular Psychiatry, 2023 - nature.com
Genomic imprinting disorders are caused by the disruption of genomic imprinting processes
leading to a deficit or increase of an active allele. Their unique molecular mechanisms …

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

Z Awamleh, S Choufani, C Cytrynbaum… - Human Molecular …, 2023 - academic.oup.com
Pathogenic variants in ANKRD11 or microdeletions at 16q24. 3 are the cause of KBG
syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability …

Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery

R Ng, A Kalinousky, J Harris - Journal of Neurodevelopmental Disorders, 2023 - Springer
Epigenetics, one mechanism by which gene expression can change without any changes to
the DNA sequence, was described nearly a century ago. However, the importance of …

SETD1A mediated H3K4 methylation and its role in neurodevelopmental and neuropsychiatric disorders

S Wang, A Bleeck, N Nadif Kasri, T Kleefstra… - Frontiers in Molecular …, 2021 - frontiersin.org
Posttranslational modification of histones and related gene regulation are shown to be
affected in an increasing number of neurological disorders. SETD1A is a chromatin …