Long non-coding RNA (lncRNA) roles in cell biology, neurodevelopment and neurological disorders

V Aliperti, J Skonieczna, A Cerase - Non-coding RNA, 2021 - mdpi.com
Development is a complex process regulated both by genetic and epigenetic and
environmental clues. Recently, long non-coding RNAs (lncRNAs) have emerged as key …

Wnt/β-catenin-dependent transcription in autism spectrum disorders

MO Caracci, ME Avila… - Frontiers in molecular …, 2021 - frontiersin.org
Autism spectrum disorders (ASD) is a heterogeneous group of neurodevelopmental
disorders characterized by synaptic dysfunction and defects in dendritic spine morphology …

Epilepsy in Angelman syndrome: A scoping review

D Samanta - Brain and Development, 2021 - Elsevier
Angelman Syndrome (AS) is characterized by severe developmental delays including
marked speech impairment, movement abnormalities (ataxia, tremor), and unique behaviors …

[HTML][HTML] Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice

L Xing, JM Simon, TS Ptacek, JY Jason, L Loo, H Mao… - Cell reports, 2023 - cell.com
The E3 ubiquitin ligase Ube3a is biallelically expressed in neural progenitors and glial cells,
suggesting that UBE3A gain-of-function mutations might cause neurodevelopmental …

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou… - Brain, 2020 - academic.oup.com
Cytogenic testing is routinely applied in most neurological centres for severe paediatric
epilepsies. However, which characteristics of copy number variants (CNVs) confer most …

E3 ligases: a potential multi-drug target for different types of cancers and neurological disorders

KM Saravanan, M Kannan, P Meera… - Future Medicinal …, 2022 - Taylor & Francis
Ubiquitylation is a posttranslational modification of proteins that is necessary for a variety of
cellular processes. E1 ubiquitin activating enzyme, E2 ubiquitin conjugating enzyme, and E3 …

Autism spectrum disorder: signaling pathways and prospective therapeutic targets

J Baranova, G Dragunas, MCS Botellho… - Cellular and molecular …, 2021 - Springer
Abstract The Autism Spectrum Disorder (ASD) consists of a prevalent and heterogeneous
group of neurodevelopmental diseases representing a severe burden to affected individuals …

HPV E6 inhibits E6AP to regulate epithelial homeostasis by modulating keratinocyte differentiation commitment and YAP1 activation

W Yin, N Egawa, K Zheng, H Griffin, P Tian… - PLoS …, 2023 - journals.plos.org
Human papillomaviruses (HPV) cause persistent infections by modulating epithelial
homeostasis in cells of the infected basal layer. Using FUCCI and cell-cell competition …

Dysregulation of multiple signaling neurodevelopmental pathways during embryogenesis: a possible cause of autism spectrum disorder

J Upadhyay, J Patra, N Tiwari, N Salankar, MN Ansari… - Cells, 2021 - mdpi.com
Understanding the autistic brain and the involvement of genetic, non-genetic, and numerous
signaling pathways in the etiology and pathophysiology of autism spectrum disorder (ASD) …

Angelman syndrome: a journey through the brain

C Maranga, TG Fernandes, E Bekman… - The FEBS …, 2020 - Wiley Online Library
Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of
function of the maternally inherited UBE3A gene. AS is characterized by a defined set of …