Results 111 to 120 of about 5,768 (191)

Mutation of ube3a causes developmental abnormalities and autism-like molecular and behavioral alterations in zebrafish

Brain Research Bulletin
Mutations in the UBE3A gene are responsible for neurodevelopmental disorders (NDDs), including Angelman syndrome (AS), which is characterized by developmental delays, impaired motor coordination, and cognitive disabilities.
Godfried Dougnon, Lana Rummel, Hideaki Matsui   +2 more
doaj   +1 more source

Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders

, 2015
The E3 ubiquitin ligase UBE3A, also known as E6-AP, has a multitude of ascribed functions and targets relevant to human health and disease. Epigenetic regulation of the UBE3A gene by parentally imprinted noncoding transcription within human chromosome ...
Reiter, Lawrence T, Chamberlain, Stormy J, LaSalle, Janine M   +2 more
core   +1 more source

UBE3A Gene [PDF]

, 2020
openaire   +1 more source

Issue Information

The Kaohsiung Journal of Medical Sciences, Volume 42, Issue 4, April 2026.
wiley   +1 more source

UBE3A, c.1347_1348delGA: a mutation in question

Clinical Chemistry and Laboratory Medicine (CCLM), 2016
Sofocleous, C., Tzagkaraki, E., Kosma, K., Kanavakis, E., Kitsiou-Tzeli, S.   +4 more
openaire   +3 more sources

UBE3A depletion alters the kinetics of ERK phosphorylation.

, 2015
(A and B) ERK phosphorylation status in siNT control or UBE3A depleted cells was analysed by immunoblotting (IB) using an anti-phospho (top; P-ERK) or anti-total (bottom) ERK antibodies.
Elisa Aguilar-Martinez (713887), Claire Morrisroe (111056), Andrew D. Sharrocks (108772)   +2 more
core   +1 more source

Role of androgen receptors in sexually dimorphic phenotypes in UBE3A-dependent autism spectrum disorder

iScience
Summary: Autism spectrum disorders (ASDs) involve social, communication, and behavioral challenges. ASDs display a remarkable sex difference with a 4:1 male to female prevalence ratio; however, the underlying mechanism remains largely unknown.
Yuan Tian, Hui Qiao, KathrynAnn Odamah, Ling-Qiang Zhu, Heng-Ye Man   +4 more
doaj   +1 more source

Imprinting effects of UBE3A loss on synaptic gene networks and Wnt signaling pathways

, 2019
Ubiquitin E3 ligase 3A (UBE3A) encodes an E3 ubiquitin ligase whose loss from the maternal allele causes the neurodevelopmental disorder Angelman syndrome (AS).
Berg, Elizabeth L, Lopez, S Jesse, Beitnere, Ulrika, O’Geen, Henriette, Laufer, Benjamin I, Segal, David J, Silverman, Jill L, LaSalle, Janine M   +7 more
core   +1 more source

UBE3A wt Allele [PDF]

, 2020
openaire   +1 more source

UBE3A Enzyme Replacement Therapy for Angelman Syndrome

Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by mutations in the UBE3A gene, resulting in a lack of UBE3A protein within neuronal cells due to the silencing of the paternal UBE3A gene.
Correa, Delihla, Bailus, Barbara, Dr., Stoub, Rachel   +2 more
core