Results 81 to 90 of about 5,768 (191)
STRUCTURAL AND BIOPHYSICAL ANALYSIS OF UBE3A AND PARTNER PROTEIN COMPLEXES [PDF]
, 2023 UBE3A is a human E3 ubiquitin ligase, responsible for the transfer of ubiquitin onto substrates to target them for degradation and other cellular processes.
Cowan, Emma
core +2 more sources
Metamorphosis and lncRNAs: A Close Relationship
genesis, Volume 64, Issue 2, April 2026.ABSTRACT The classical definition of metamorphosis is a post‐embryonic transformation, such as from a tadpole to a froglet. However, recent studies suggest this process occurs to some degree in all vertebrates, as the underlying endocrine and molecular pathways are highly conserved. With the advent of high‐throughput sequencing, transcriptomic data for
H. Herrera‐Orozco +1 more
wiley +1 more source
Spatial and temporal silencing of the human maternal UBE3A gene [PDF]
European Journal of Paediatric Neurology, 2012 Angelman syndrome (AS) is characterized by severe cognitive disruption, seizures, difficulty speaking and ataxia. Nearly all cases are attributed to the disruption or absence of the imprinted maternal copy of UBE3A, transcribing an E3-type ubiquitin ligase.
Jennifer, Daily +2 more
openaire +3 more sources
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 +8 more
doaj +1 more source
Investigating the interaction between UBE3A and the UBE3A antisense
, 2006 Failure to inherit a normal active maternal copy of the gene encoding ubiquitin protein ligase E3A (UBE3A) results in the neurogenetic disorder, Angelman syndrome. UBE3A is transcribed predominantly from the maternal allele in brain but is expressed from
Calciano, Margaret A
core
Loss of cyclin‐dependent kinase‐like 5 results in susceptibility to audiogenic seizures in mice
Epilepsia Open, Volume 11, Issue 2, Page 670-678, April 2026.Abstract CDKL5 deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy characterized by early‐onset, treatment‐resistant epilepsy. Mice lacking CDKL5 display several clinically relevant phenotypes, but spontaneous seizures are not consistently reported, and it is unknown if CDD model mice are susceptible to sensory stimulus‐triggered ...
Jordan Higgins +4 more
wiley +1 more source
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 +10 more
doaj +1 more source
Journal of Cellular and Molecular Medicine, Volume 30, Issue 7, April 2026.ABSTRACT Mutations in collagen I are the most common cause of osteogenesis imperfecta (OI), leading to delayed protein folding and structurally abnormal molecules. While some aberrant collagen is secreted into the extracellular matrix (ECM), impairing bone quality, a significant fraction is retained intracellularly, disrupting osteoblast homeostasis. 4‐
Roberta Besio +7 more
wiley +1 more source
Dramatic loss of Ube3A expression during aging of the mammalian cortex
Frontiers in Aging Neuroscience, 2010 Neurobiological studies of aging are beginning to link functional changes with a loss of experience-dependent plasticity. In the visual system, age-related functional changes include decreases in visual acuity, orientation selectivity, motion perception,
Kate Williams +4 more
doaj +1 more source
Molecular-Genetic Diagnostics of Angelman Syndrome – The Bulgarian Experience
Acta Medica Bulgarica, 2020 Objective: The aim of the study was to determine the molecular mechanisms of mutagenesis in Bulgarian patients with Angelman syndrome (AS). AS is a severe neurodevelopmental disorder caused by loss of expression in brain of the maternally inherited UBE3A
Georgieva B. +6 more
doaj +1 more source