Rubinstein-Taybi syndrome: a model of epigenetic disorder

J Van Gils, F Magdinier, P Fergelot, D Lacombe - Genes, 2021 - mdpi.com
The Rubinstein-Taybi syndrome (RSTS) is a rare congenital developmental disorder
characterized by a typical facial dysmorphism, distal limb abnormalities, intellectual …

The omics era: a nexus of untapped potential for Mendelian chromatinopathies

AA Nava, VA Arboleda - Human Genetics, 2024 - Springer
The OMICs cascade describes the hierarchical flow of information through biological
systems. The epigenome sits at the apex of the cascade, thereby regulating the RNA and …

Targeting epigenetic dysregulation in autism spectrum disorders

ML Herrera, J Paraíso-Luna, I Bustos-Martínez… - Trends in Molecular …, 2024 - cell.com
Autism spectrum disorders (ASD) comprise a range of neurodevelopmental pathologies
characterized by deficits in social interaction and repetitive behaviors, collectively affecting …

Chromatin structure and dynamics: focus on neuronal differentiation and pathological implication

SA Nothof, F Magdinier, J Van-Gils - Genes, 2022 - mdpi.com
Chromatin structure is an essential regulator of gene expression. Its state of compaction
contributes to the regulation of genetic programs, in particular during differentiation …

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder

A de Thonel, JK Ahlskog, K Daupin, V Dubreuil… - Nature …, 2022 - nature.com
Patients carrying autosomal dominant mutations in the histone/lysine acetyl transferases
CBP or EP300 develop a neurodevelopmental disorder: Rubinstein-Taybi syndrome …

Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis

F Mastropasqua, M Oksanen, C Soldini… - Biology …, 2023 - journals.biologists.com
ABSTRACT Genetic variants affecting Heterogeneous Nuclear Ribonucleoprotein U
(HNRNPU) have been identified in several neurodevelopmental disorders (NDDs) …

Neural networks recapitulation by cancer cells promotes disease progression: a novel role of p73 isoforms in cancer-neuronal crosstalk

S Logotheti, S Marquardt, C Richter, R Sophie Hain… - Cancers, 2020 - mdpi.com
Simple Summary Cancer is initiated by alterations in specific genes. However, at late stages,
cancer cells become metastatic not necessarily through continuous accumulation of …

Transcriptome and acetylome profiling identify crucial steps of neuronal differentiation in Rubinstein-Taybi syndrome

J Van Gils, S Karkar, A Barre, S Ley-Ngardigal… - Communications …, 2024 - nature.com
Rubinstein-Taybi syndrome (RTS) is a rare and severe genetic developmental disorder
characterized by multiple congenital anomalies and intellectual disability. CREBBP and …

Histone deacetylase inhibitors ameliorate morphological defects and hypoexcitability of iPSC-neurons from rubinstein-taybi patients

V Alari, P Scalmani, PF Ajmone, S Perego… - International Journal of …, 2021 - mdpi.com
Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder caused by
mutations in CREBBP or EP300 genes encoding CBP/p300 lysine acetyltransferases. We …

Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons

L Larizza, L Calzari, V Alari… - Neural regeneration …, 2022 - journals.lww.com
Taking advantage of the fast-growing knowledge of RNA-binding proteins (RBPs) we review
the signature of downregulated genes for RBPs in the transcriptome of induced pluripotent …