Results 31 to 40 of about 9,461 (226)

Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome

eLife, 2023
UBE3A encodes ubiquitin protein ligase E3A, and in neurons its expression from the paternal allele is repressed by the UBE3A antisense transcript (UBE3A-ATS). This leaves neurons susceptible to loss-of-function of maternal UBE3A.
Dongwon Lee, Wu Chen, Heet Naresh Kaku, Xinming Zhuo, Eugene S Chao, Armand Soriano, Allen Kuncheria, Stephanie Flores, Joo Hyun Kim, Armando Rivera, Frank Rigo, Paymaan Jafar-nejad, Arthur L Beaudet, Matthew S Caudill, Mingshan Xue   +14 more
doaj   +1 more source

Subcellular organization of UBE3A in neurons [PDF]

Journal of Comparative Neurology, 2016
ABSTRACTUbiquitination regulates a broad array of cellular processes, and defective ubiquitination is implicated in several neurological disorders. Loss of the E3 ubiquitin–protein ligase UBE3A causes Angelman syndrome. Despite its clinical importance, the normal role of UBE3A in neurons is still unclear.
A Burette, Matthew C. Judson, Susan Burette, Kristen D. Phend, Benjamin D. Philpot, Richard J. Weinberg   +5 more
openalex   +4 more sources

Angelman Syndrome Protein Ube3a Regulates Synaptic Growth and Endocytosis by Inhibiting BMP Signaling in Drosophila. [PDF]

PLoS Genetics, 2016
Altered expression of the E3 ubiquitin ligase UBE3A, which is involved in protein degradation through the proteasome-mediated pathway, is associated with neurodevelopmental and behavioral defects observed in Angelman syndrome (AS) and autism.
Wenhua Li, Aiyu Yao, Hui Zhi, Kuldeep Kaur, Yong-Chuan Zhu, Mingyue Jia, Hui Zhao, Qifu Wang, Shan Jin, Guoli Zhao, Zhi-Qi Xiong, Yong Q Zhang   +11 more
doaj   +1 more source

Circadian Rhythms and Sleep Are Dependent Upon Expression Levels of Key Ubiquitin Ligase Ube3a

Frontiers in Behavioral Neuroscience, 2022
Normal neurodevelopment requires precise expression of the key ubiquitin ligase gene Ube3a. Comparing newly generated mouse models for Ube3a downregulation (models of Angelman syndrome) vs.
Shu-qun Shi, Carrie E. Mahoney, Pavel Houdek, Wenling Zhao, Matthew P. Anderson, Matthew P. Anderson, Xinming Zhuo, Arthur Beaudet, Alena Sumova, Thomas E. Scammell, Carl Hirschie Johnson   +10 more
doaj   +1 more source

Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations [PDF]

Human Molecular Genetics, 2021
Abstract Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by deletion (~75%) or mutation (~10%) of the ubiquitin E3 ligase A (UBE3A) gene, which encodes a HECT type E3 ubiquitin protein ligase. Although the critical substrates of UBE3A are unknown, previous studies have suggested a critical role of nuclear UBE3A in ...
Stijn N V Bossuyt, A Mattijs Punt, Ilona J de Graaf, Janny van den Burg, Mark G Williams, Helen Heussler, Ype Elgersma, Ben Distel   +7 more
openaire   +3 more sources

Identification of Small-Molecule Activators of the Ubiquitin Ligase E6AP/UBE3A and Angelman Syndrome-Derived E6AP/UBE3A Variants [PDF]

Cell Chemical Biology, 2020
Genetic aberrations of the UBE3A gene encoding the E3 ubiquitin ligase E6AP underlie the development of Angelman syndrome (AS). Approximately 10% of AS individuals harbor UBE3A genes with point mutations, frequently resulting in the expression of full-length E6AP variants with defective E3 activity.
Offensperger, Fabian, Müller, Franziska, Jansen, Jasmin, Hammler, Daniel, Götz, Kathrin H., Marx, Andreas, Sirois, Carissa L., Chamberlain, Stormy J., Stengel, Florian, Scheffner, Martin   +9 more
openaire   +3 more sources

Translational outcomes in a full gene deletion of ubiquitin protein ligase E3A rat model of Angelman syndrome. [PDF]

, 2020
Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by developmental delay, impaired communication, motor deficits and ataxia, intellectual disabilities, microcephaly, and seizures. The genetic cause of AS is the loss of expression
Adhikari, A, Anderson, AE, Beitnere, U, Berg, EL, Born, HA, Cameron, DL, Copping, NA, Deng, P, Dindot, SV, Ellegood, J, Fenton, TA, Fink, KD, Harris, S, Lee, RD, Lerch, JP, Nash, KR, Nieman, BJ, Noakes, LS, O'Geen, H, Pedersen, LR, Peters, MM, Petkova, SP, Pride, MC, Segal, DJ, Shen, Y, Silverman, JL, Weeber, EJ, Wöhr, M   +27 more
core   +2 more sources

UBE3A (ubiquitin protein ligase E3A) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on UBE3A (ubiquitin protein ligase E3A), with data on DNA, on the protein encoded, and where the gene is implicated.
Matentzoglu, K, Scheffner, M
openaire   +2 more sources

A protein regulated by UBE3A PEGs a potential biomarker [PDF]

Cell Reports Medicine, 2021
New research from Pandya and colleagues1 identifies PEG10 as a UBE3A-regulated protein that may underlie pathophysiology in Angelman syndrome neurons. PEG10 is a secreted protein, and this work suggests that it may be a potential biomarker for Angelman syndrome therapeutics under development.
Germain, Noelle D., Chamberlain, Stormy J.   +1 more
openaire   +2 more sources

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