The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

Bringing MicroRNAs to light: methods for MicroRNA quantification and visualization in live cells

T Siddika, IU Heinemann - Frontiers in bioengineering and …, 2021 - frontiersin.org
MiRNAs are small non-coding RNAs that interact with their target mRNAs for
posttranscriptional gene regulation. Finely controlled miRNA biogenesis, target recognition …

[HTML][HTML] Histone variants and their chaperones: an emerging epigenetic mechanism in neurodevelopment and neurodevelopmental disorders

KS Johal, MS Cheema, G Stefanelli - Journal of Integrative …, 2023 - imrpress.com
Neurodevelopment is a highly regulated process that relies on the precise regulation of
gene expression. Numerous epigenetic mechanisms contribute and cooperate to ensure the …

ATR-X syndrome: genetics, clinical spectrum, and management

NY León, VR Harley - Human genetics, 2021 - Springer
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a
congenital condition predominantly affecting males, characterized by mild to severe …

Oncogenic herpesvirus KSHV triggers hallmarks of alternative lengthening of telomeres

TP Lippert, P Marzec, AI Idilli, G Sarek… - Nature …, 2021 - nature.com
To achieve replicative immortality, cancer cells must activate telomere maintenance
mechanisms to prevent telomere shortening.~ 85% of cancers circumvent telomeric attrition …

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

R Tillotson, K Yan, J Ruston, T DeYoung… - Human Molecular …, 2023 - academic.oup.com
ATRX is a chromatin remodelling ATPase that is involved in transcriptional regulation, DNA
damage repair and heterochromatin maintenance. It has been widely studied for its role in …

Menin Deficiency Induces Autism‐Like Behaviors by Regulating Foxg1 Transcription and Participates in Foxg1‐Related Encephalopathy

K Zhuang, L Leng, X Su, S Wang, Y Su… - Advanced …, 2024 - Wiley Online Library
FOXG1 syndrome is a developmental encephalopathy caused by FOXG1 (Forkhead box
G1) mutations, resulting in high phenotypic variability. However, the upstream transcriptional …

Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone Demethylase KDM5C

KM Bonefas, CN Vallianatos, B Raines, NC Tronson… - Cells, 2023 - mdpi.com
Chromatin dysregulation has emerged as a major hallmark of neurodevelopmental
disorders such as intellectual disability (ID) and autism spectrum disorders (ASD). The …

Inactivation of ATRX in forebrain excitatory neurons affects hippocampal synaptic plasticity

R Gugustea, RJ Tamming, N Martin‐Kenny… - …, 2020 - Wiley Online Library
Abstract α‐Thalassemia X‐linked intellectual disability (ATR‐X) syndrome is a
neurodevelopmental disorder caused by mutations in the ATRX gene that encodes a SNF2 …

Transgenic mice with an R342X mutation in Phf6 display clinical features of Börjeson–Forssman–Lehmann Syndrome

R Ahmed, S Sarwar, J Hu, V Cardin… - Human molecular …, 2021 - academic.oup.com
The PHF6 mutation c. 1024C> T; p. R342X, is a recurrent cause of Börjeson–Forssman–
Lehmann Syndrome (BFLS), a neurodevelopmental disorder characterized by moderate …