Results 1 to 10 of about 9,461 (226)

Subcellular organization of UBE3A in human cerebral cortex [PDF]

Molecular Autism, 2018
Background Loss of UBE3A causes Angelman syndrome, whereas excess UBE3A activity appears to increase the risk for autism. Despite this powerful association with neurodevelopmental disorders, there is still much to be learned about UBE3A, including its ...
Alain C. Burette, Matthew C. Judson, Alissa N. Li, Edward F. Chang, William W. Seeley, Benjamin D. Philpot, Richard J. Weinberg   +6 more
doaj   +9 more sources

AAV-dCas9 vector unsilences paternal Ube3a in neurons by impeding Ube3a-ATS transcription [PDF]

Communications Biology
Angelman syndrome (AS) is a debilitating neurodevelopmental disorder caused by loss of maternally-inherited UBE3A. In neurons, paternally-inherited UBE3A is silenced in cis by a long non-coding RNA called Ube3a-ATS.
Justin M. Wolter, Lucas M. James, Samantha L. Boeshore, Hanqian Mao, Eric S. McCoy, Daniel F. Ryan, Giulia Fragola, Bonnie Taylor-Blake, Jason L. Stein, Mark J. Zylka   +9 more
doaj   +4 more sources

Mono-ubiquitination of Rabphilin 3A by UBE3A serves a non-degradative function [PDF]

Scientific Reports, 2021
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by brain-specific loss of UBE3A, an E3 ubiquitin protein ligase. A substantial number of possible ubiquitination targets of UBE3A have been identified, although evidence of being ...
Rossella Avagliano Trezza, A. Mattijs Punt, Edwin Mientjes, Marlene van den Berg, F. Isabella Zampeta, Ilona J. de Graaf, Yana van der Weegen, Jeroen A. A. Demmers, Ype Elgersma, Ben Distel   +9 more
doaj   +2 more sources

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

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   +3 more sources

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

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   +2 more sources

Normal social seeking behavior, hypoactivity and reduced exploratory range in a mouse model of Angelman syndrome [PDF]

BMC Genetics, 2011
Background Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with mental retardation, a generally happy disposition, ataxia and characteristic behaviors such as inappropriate laughter, social-seeking behavior ...
Reiter Lawrence T, Saha Anand, Allensworth Melody, Heck Detlef H   +3 more
doaj   +2 more sources

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis [PDF]

Nature Communications, 2021
UBE3A gene dysregulation is associated with neurodevelopmental disorders, but predicting the function of UBE3A variants remains difficult. The authors use a high-throughput assay to categorize variants by functional activity, and show that UBE3A ...
Kellan P. Weston, Xiaoyi Gao, Jinghan Zhao, Kwang-Soo Kim, Susan E. Maloney, Jill Gotoff, Sumit Parikh, Yen-Chen Leu, Kuen-Phon Wu, Marwan Shinawi, Joshua P. Steimel, Joseph S. Harrison, Jason J. Yi   +12 more
doaj   +2 more sources

A human Angelman Syndrome class II pluripotent stem cell line with fluorescent paternal UBE3A reporter [PDF]

Frontiers in Cell and Developmental Biology
IntroductionAngelman Syndrome (AS) is characterized in large part by the loss of functional UBE3A protein in mature neurons. A majority of AS etiologies is linked to deletion of the maternal copy of the UBE3A gene and epigenetic silencing of the paternal
Gautami R. Kelkar, Samantha R. Stuppy, Samantha R. Stuppy, Dilara Sen, Z. Begum Yagci, Linna Han, Lexi Land, Jessica K. Hartman, Albert J. Keung, Albert J. Keung   +9 more
doaj   +2 more sources

UBE3A reinstatement restores behaviorand proteome in an Angelman syndrome mouse model of imprinting defects [PDF]

Molecular Autism
Background Angelman Syndrome (AS) is a severe neurodevelopmental disorder with only symptomatic treatment currently available. The primary cause of AS is loss of functional UBE3A protein.
Claudia Milazzo, Ramanathan Narayanan, Solveig Badillo, Silvia Wang, Rosaisela Almand, Roos Monshouwer, Manuel Tzouros, Sabrina Golling, Edwin Mientjes, Stormy Chamberlain, Thomas Kremer, Ype Elgersma   +11 more
doaj   +2 more sources

UBE3A stabilization of β-catenin preserves synaptic proteins essential for motor and cognitive functions in Angelman Syndrome [PDF]

Molecular Autism
Background Ubiquitin protein ligase E3A (UBE3A) regulates signaling pathways associated with autism spectrum disorders (ASDs). As an E3 ligase, UBE3A ubiquitinates and promotes the degradation of proteins crucial for regulating synaptic plasticity and ...
Xin Yang, Yuwen-Alvin Huang, John Marshall   +2 more
doaj   +2 more sources