Results 101 to 110 of about 9,461 (226)

Ube3a Imprinting Impairs Circadian Robustness in Angelman Syndrome Models [PDF]

Current Biology, 2015
The paternal allele of Ube3a is silenced by imprinting in neurons, and Angelman syndrome (AS) is a disorder arising from a deletion or mutation of the maternal Ube3a allele, which thereby eliminates Ube3a neuronal expression. Sleep disorders such as short sleep duration and increased sleep onset latency are very common in AS.We found a unique link ...
Shi, Shu-qun, Bichell, Terry Jo, Ihrie, Rebecca A., Johnson, Carl Hirschie   +3 more
openaire   +2 more sources

Criterion Validity, Scalability and Stability of Scoring on the Bayley‐III in Children With Angelman Syndrome

Journal of Intellectual Disability Research, Volume 69, Issue 12, Page 1382-1393, December 2025.
ABSTRACT Background The Bayley Scales of Infant Development is used in many studies and clinical trials in children with developmental disabilities, including children with Angelman syndrome (AS). Method We assessed 142 children with AS in an international multicentre study with the Bayley Scales of Infant Development III, of which 52 children were ...
Maartje ten Hooven‐Radstaake, Sabine Herrman‐Mous, Anjali Sadhwani, Anne Wheeler, Margaret DeRamus, Gwen Dieleman, Cindy Navis, Jeroen Legerstee, Leontine ten Hoopen, Jan van der Ende, Casey Okoniewski, Laura Hiruma, ENCORE group, André Rietman, Bram Dierckx, Pieter de Nijs, Marie‐Claire de Wit, Karen Bindels‐de Heus, Henriette Mol   +18 more
wiley   +1 more source

Dataset related to article "JNK signaling activation in the Ube3a maternal deficient mouse model"

, 2021
Clara Alice Musi, Graziella Agrò, Lucia Buccarello, Serena Camuso, Tiziana Borsello   +4 more
openalex   +2 more sources

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source

UBE3A regulates the transcription of IRF, an antiviral immunity [PDF]

Human Molecular Genetics, 2019
UBE3A is a gene responsible for the pathogenesis of Angelman syndrome (AS), a neurodevelopmental disorder characterized by symptoms such as intellectual disability, delayed development and severe speech impairment. UBE3A encodes an E3 ubiquitin ligase, for which several targets have been identified, including synaptic molecules.
Ryohei Furumai, Kota Tamada, Xiaoxi Liu, Toru Takumi   +3 more
openaire   +2 more sources

Microglial CLEC7A restrains amyloid beta plaque pathology in a mouse model of Alzheimer's disease

Alzheimer's &Dementia, Volume 21, Issue 11, November 2025.
Abstract INTRODUCTION CLEC7A is a surface receptor that is highly upregulated on microglia in many Alzheimer's disease (AD) models. Little is known about the role that microglial CLEC7A signaling plays in AD‐related pathogenesis. METHODS We utilized an inducible, central nervous system (CNS) macrophage‐specific knockout of Clec7a to evaluate the role ...
Aman Mangalmurti, Kristine E. Zengeler, Ava Hollis, Emily Golden, Gabrielle Riddlemoser, John R. Lukens   +5 more
wiley   +1 more source

UBE3A-mediated regulation of imprinted genes and epigenome-wide marks in human neurons

Epigenetics, 2017
The dysregulation of genes in neurodevelopmental disorders that lead to social and cognitive phenotypes is a complex, multilayered process involving both genetics and epigenetics.
S. Jesse Lopez, Keith Dunaway, M. Saharul Islam, Charles Mordaunt, Annie Vogel Ciernia, Makiko Meguro-Horike, Shin-ichi Horike, David J. Segal, Janine M. LaSalle   +8 more
doaj   +1 more source

Antisense oligonucleotide treatment rescues UBE3A expression and multiple phenotypes of an Angelman syndrome mouse model

JCI Insight, 2021
Angelman syndrome (AS) is a severe neurodevelopmental disorder for which only symptomatic treatment with limited benefits is available. AS is caused by mutations affecting the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene.
Claudia Milazzo, Edwin J. Mientjes, Ilse Wallaard, Søren Vestergaard Rasmussen, Kamille Dumong Erichsen, Tejaswini Kakunuri, A.S. Elise van der Sman, Thomas Kremer, Meghan T. Miller, Marius C. Hoener, Ype Elgersma   +10 more
doaj   +1 more source

Autism-like behavior caused by deletion of vaccinia-related kinase 3 is improved by TrkB stimulation [PDF]

, 2019
Vaccinia-related kinases (VRKs) are multifaceted serine/threonine kinases that play essential roles in various aspects of cell signaling, cell cycle progression, apoptosis, and neuronal development and differentiation.
Choi, Se-Young, Choi, Tae-Yong, Kang, Myung-Su, Kim, Kyong-Tai, Lee, Dohyun, Lee, Seung-Hyun, Ryu, Hye-Guk   +6 more
core   +1 more source

Perinatal Choline Supplementation Promotes Resilience Against Progression of Alzheimer's Disease‐Like Brain Transcriptomic Signatures in AppNL‐G‐F Mice

Aging Cell, Volume 24, Issue 11, November 2025.
Choline‐protected genes correlated with clinical dementia rating, inflammation, and tauopathy in human AD samples, suggesting that adequate choline intake could be a preventive strategy for Alzheimer's disease (AD). ABSTRACT Alzheimer's disease (AD)—the leading cause of dementia—has no cure, inadequate treatment options, and a limited understanding of ...
Thomas A. Bellio, Andre Krunic, Mary S. Campion, Rohan Dupaguntla, Adam Labadorf, Thor D. Stein, Honghuang Lin, Tiffany J. Mellott, Jan K. Blusztajn   +8 more
wiley   +1 more source