Results 31 to 40 of about 5,768 (191)

JNK signaling activation in the Ube3a maternal deficient mouse model: its specific inhibition prevents post-synaptic protein-enriched fraction alterations and cognitive deficits in Angelman Syndrome model

Neurobiology of Disease, 2020
Deficiency of the E3 ubiquitin ligase UBE3A leads to the neurodevelopmental disorder Angelman syndrome (AS), while higher levels are linked to autism spectrum disorder. The mechanisms underlying the downstream effects of UBE3A loss or gain of function in
Clara Alice Musi, Graziella Agrò, Lucia Buccarello, Serena Camuso, Tiziana Borsello   +4 more
doaj   +1 more source

Ube3a is required for experience-dependent maturation of the neocortex [PDF]

Nature Neuroscience, 2009
Experience-dependent maturation of neocortical circuits is required for normal sensory and cognitive abilities, which are distorted in neurodevelopmental disorders. We have tested whether experience-dependent neocortical modifications require Ube3a, an E3 ubiquitin ligase whose dysregulation has been implicated in autism and Angelman syndrome (AS ...
Koji, Yashiro, Thorfinn T, Riday, Kathryn H, Condon, Adam C, Roberts, Danilo R, Bernardo, Rohit, Prakash, Richard J, Weinberg, Michael D, Ehlers, Benjamin D, Philpot   +8 more
openaire   +2 more sources

Abundance and localization of human UBE3A protein isoforms [PDF]

Human Molecular Genetics, 2020
Abstract Loss of UBE3A expression, a gene regulated by genomic imprinting, causes Angelman Syndrome (AS), a rare neurodevelopmental disorder. The UBE3A gene encodes an E3 ubiquitin ligase with three known protein isoforms in humans.
Sirois, Carissa L., Bloom, Judy E., Fink, James J., Gorka, Dea, Keller, Steffen, Germain, Noelle D., Levine, Eric S., Chamberlain, Stormy J.   +7 more
openaire   +3 more sources

Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome

Molecular Autism, 2018
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder lacking effective therapies. AS is caused by mutations in ubiquitin protein ligase E3A (UBE3A), which is genomically imprinted such that only the maternally inherited copy is ...
Hyeong-Min Lee, Ellen P. Clark, M. Bram Kuijer, Mark Cushman, Yves Pommier, Benjamin D. Philpot   +5 more
doaj   +1 more source

Delayed loss of UBE3A reduces the expression of Angelman syndrome-associated phenotypes

Molecular Autism, 2019
Background Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by mutations affecting UBE3A gene expression. Previous studies in mice revealed distinct critical periods during neurodevelopment in which reactivation of Ube3a gene ...
Monica Sonzogni, Johanna Hakonen, Mireia Bernabé Kleijn, Sara Silva-Santos, Matthew C. Judson, Benjamin D. Philpot, Geeske M. van Woerden, Ype Elgersma   +7 more
doaj   +1 more source

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome

Molecular Autism, 2020
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of functional ubiquitin protein ligase E3A (UBE3A). In neurons, UBE3A expression is tightly regulated by a mechanism of imprinting which suppresses the expression ...
Monica Sonzogni, Peipei Zhai, Edwin J. Mientjes, Geeske M. van Woerden, Ype Elgersma   +4 more
doaj   +1 more source

Epilepsy-Associated UBE3A Deficiency Downregulates Retinoic Acid Signalling Pathway

Frontiers in Genetics, 2021
Ubiquitin-protein ligase E3A (UBE3A) has dual functions as a E3 ubiquitin-protein ligase and coactivator of nuclear hormone receptors. Mutations or deletions of the maternally inherited UBE3A gene cause Angelman syndrome. Here, we performed transcriptome
Meimiao Fang, Yali Li, Yali Li, Jin Ren, Ronggui Hu, Ronggui Hu, Xiaobo Gao, Liang Chen, Liang Chen   +8 more
doaj   +1 more source

UBE3A expression during early postnatal brain development is required for proper dorsomedial striatal maturation

JCI Insight, 2023
Angelman syndrome (AS) is a severe neurodevelopmental disorder (NDD) caused by loss of functional ubiquitin protein ligase E3A (UBE3A). Previous studies showed that UBE3A plays an important role in the first postnatal weeks of mouse brain development ...
Diana C. Rotaru, Ilse Wallaard, Maud de Vries, Julia van der Bie, Ype Elgersma   +4 more
doaj   +1 more source

Deleting a UBE3A substrate rescues impaired hippocampal physiology and learning in Angelman syndrome mice

Scientific Reports, 2021
In humans, loss-of-function mutations in the UBE3A gene lead to the neurodevelopmental disorder Angelman syndrome (AS). AS patients have severe impairments in speech, learning and memory, and motor coordination, for which there is currently no treatment.
Gabrielle L. Sell, Wendy Xin, Emily K. Cook, Mark A. Zbinden, Thomas B. Schaffer, Robert N. O’Meally, Robert N. Cole, Seth S. Margolis   +7 more
doaj   +1 more source

Gene expression for PWS-imprinted genes, Ube3a and Ube3a-ATS loci.

, 2023
(A) RT-PCR analyses of 7 PWS-imprinted genes (U1A, Snurf, Snrpn, Snord107, Snord64, Snord116, Snord115; see map in Fig 1A), rat Ins2, mCherry transgene, and Gapdh control gene in the expanded INS-1 panel of 9 cell lines.
Patrizia Luppi (15307197), Peter Drain (15307200), Erik A. Koppes (15307191), Donna B. Stolz (6901796), John R. Yates III (8072333), Robert D. Nicholls (15307203), Hyun Jung Park (8778488), James J. Moresco (569744), Dale W. Lewis (6862094), Jolene K. Diedrich (1235706), Susanne M. Gollin (5063618), Simon C. Watkins (39900), Ronald C. Wek (15169871), Marie A. Johnson (15307194)   +13 more
core   +1 more source