The epigenome in neurodevelopmental disorders

J Reichard, G Zimmer-Bensch - Frontiers in Neuroscience, 2021 - frontiersin.org
Neurodevelopmental diseases (NDDs), such as autism spectrum disorders, epilepsy, and
schizophrenia, are characterized by diverse facets of neurological and psychiatric …

[HTML][HTML] Ubiquitin and ubiquitin-like proteins in cancer, neurodegenerative disorders, and heart diseases

JT Hwang, A Lee, C Kho - International journal of molecular sciences, 2022 - mdpi.com
Post-translational modification (PTM) is an essential mechanism for enhancing the
functional diversity of proteins and adjusting their signaling networks. The reversible …

Prenatal delivery of a therapeutic antisense oligonucleotide achieves broad biodistribution in the brain and ameliorates Angelman syndrome phenotype in mice

MT Clarke, L Remesal, L Lentz, DJ Tan, D Young… - Molecular Therapy, 2024 - cell.com
Angelman syndrome (AS), an early-onset neurodevelopmental disorder characterized by
abnormal gait, intellectual disabilities, and seizures, occurs when the maternal allele of the …

Ubiquitin proteasome system in immune regulation and therapeutics

SA Bhat, Z Vasi, R Adhikari, A Gudur, A Ali… - Current opinion in …, 2022 - Elsevier
The ubiquitin proteasome system (UPS) is a proteolytic machinery for the degradation of
protein substrates that are post-translationally conjugated with ubiquitin polymers through …

Neurodevelopmental disorders (NDD) caused by genomic alterations of the ubiquitin-proteasome system (UPS): the possible contribution of immune dysregulation to …

F Ebstein, S Küry, JJ Papendorf… - Frontiers in molecular …, 2021 - frontiersin.org
Over thirty years have passed since the first description of ubiquitin-positive structures in the
brain of patients suffering from Alzheimer's disease. Meanwhile, the intracellular …

[HTML][HTML] Na+/K+-ATPase: ion pump, signal transducer, or cytoprotective protein, and novel biological functions

S Huang, W Dong, X Lin, J Bian - Neural Regeneration Research, 2024 - journals.lww.com
Abstract Na+/K+-ATPase is a transmembrane protein that has important roles in the
maintenance of electrochemical gradients across cell membranes by transporting three Na+ …

[HTML][HTML] Genotype–phenotype correlations in Angelman syndrome

L Yang, X Shu, S Mao, Y Wang, X Du, C Zou - Genes, 2021 - mdpi.com
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss
of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the …

[HTML][HTML] Unravelling the Cerebellar Involvement in Autism Spectrum Disorders: Insights into Genetic Mechanisms and Developmental Pathways

M Guerra, V Medici, G La Sala, D Farini - Cells, 2024 - mdpi.com
Autism spectrum disorders (ASDs) are complex neurodevelopmental conditions
characterized by deficits in social interaction and communication, as well as repetitive …

Imprinting fidelity in mouse iPSCs depends on sex of donor cell and medium formulation

M Arez, M Eckersley-Maslin, T Klobučar… - Nature …, 2022 - nature.com
Reprogramming of somatic cells into induced Pluripotent Stem Cells (iPSCs) is a major leap
towards personalised approaches to disease modelling and cell-replacement therapies …

Elevated ROS levels during the early development of Angelman syndrome alter the apoptotic capacity of the develo** neural precursor cells

L Simchi, PK Gupta, Y Feuermann, H Kaphzan - Molecular Psychiatry, 2023 - nature.com
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder caused by the
maternally inherited loss of function of the UBE3A gene. AS is characterized by a …