Neurodevelopmental disorders, like cancer, are connected to impaired chromatin remodelers, PI3K/mTOR, and PAK1-regulated MAPK

R Nussinov, BR Yavuz, MK Arici, HC Demirel… - Biophysical …, 2023 - Springer
Neurodevelopmental disorders (NDDs) and cancer share proteins, pathways, and
mutations. Their clinical symptoms are different. However, individuals with NDDs have …

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 …

SH3-and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism

Y Ivashko-Pachima, M Ganaiem… - Molecular …, 2022 - nature.com
De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP)
cause autistic ADNP syndrome. ADNP mutations impair microtubule (MT) function, essential …

Genetic architecture of childhood speech disorder: a review

AT Morgan, DJ Amor, MD St John, IE Scheffer… - Molecular …, 2024 - nature.com
Severe speech disorders lead to poor literacy, reduced academic attainment and negative
psychosocial outcomes. As early as the 1950s, the familial nature of speech disorders was …

Adnp-mutant mice with cognitive inflexibility, CaMKIIα hyperactivity, and synaptic plasticity deficits

H Cho, T Yoo, H Moon, H Kang, Y Yang, MS Kang… - Molecular …, 2023 - nature.com
ADNP syndrome, involving the ADNP transcription factor of the SWI/SNF chromatin-
remodeling complex, is characterized by developmental delay, intellectual disability, and …

HMGA2 directly mediates chromatin condensation in association with neuronal fate regulation

N Kuwayama, T Kujirai, Y Kishi, R Hirano… - Nature …, 2023 - nature.com
Identification of factors that regulate chromatin condensation is important for understanding
of gene regulation. High-mobility group AT-hook (HMGA) proteins 1 and 2 are abundant …

NAP (Davunetide): the neuroprotective ADNP drug candidate penetrates cell nuclei explaining pleiotropic mechanisms

M Ganaiem, ND Gildor, S Shazman, G Karmon… - Cells, 2023 - mdpi.com
(1) Background: Recently, we showed aberrant nuclear/cytoplasmic boundaries/activity-
dependent neuroprotective protein (ADNP) distribution in ADNP-mutated cells. This …

[HTML][HTML] O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome

JM Mayfield, NL Hitefield, I Czajewski, L Vanhye… - Journal of Biological …, 2024 - Elsevier
O-GlcNAc transferase (OGT) is the sole enzyme responsible for the post-translational
modification O-GlcNAc on thousands of target nucleocytoplasmic proteins. To date, nine …

Autism-associated protein POGZ controls ESCs and ESC neural induction by association with esBAF

X Sun, L Cheng, Y Sun - Molecular Autism, 2022 - Springer
Background The POGZ gene has been found frequently mutated in neurodevelopmental
disorders (NDDs), particularly autism spectrum disorder (ASD) and intellectual disability (ID) …

The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis

S Clémot-Dupont, JA Lourenço Fernandes… - Proceedings of the …, 2025 - pnas.org
Although chromatin remodelers are among the most important risk genes associated with
neurodevelopmental disorders (NDDs), the roles of these complexes during brain …