Epilepsy-Associated UBE3A Deficiency Downregulates Retinoic Acid Signalling Pathway [PDF]
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 +8 more
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Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. [PDF]
PLoS Genetics, 2013 Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by maternal deficiency of the imprinted gene UBE3A. Individuals with AS suffer from intellectual disability, speech impairment, and motor dysfunction.
Linyan Meng +5 more
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Unraveling the Roles of UBE3A in Neurodevelopment and Neurodegeneration. [PDF]
Int J Mol SciThe ubiquitin-protein ligase E3A (UBE3A, aka E6-AP), an E3 ligase belonging to the HECT family, plays crucial roles in the stability of various proteins through the proteasomal degradation system. Abnormal UBE3A activity is essential for the initiation and progression of several cancers.
Yang X, Huang YA.
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UBE3A and Its Link With Autism [PDF]
Frontiers in Molecular Neuroscience, 2018 UBE3A is a dual function protein consisting of ubiquitin ligase as well as transcriptional co-activator function. UBE3A gene is imprinted in the brain with preferential maternal-specific expression particularly in the neuron and loss of activity of the ...
Naman Vatsa, Nihar Ranjan Jana
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From UBE3A to Angelman syndrome: a substrate perspective [PDF]
Frontiers in Neuroscience, 2015 Angelman syndrome (AS) is a debilitating neurodevelopmental disorder that is characterized by motor dysfunction, intellectual disability, speech impairment, seizures and common features of autism spectrum disorders (ASDs).
Gabrielle L Sell +3 more
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A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome [PDF]
Orphanet Journal of Rare Diseases, 2019 Background Angelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Julia Han +8 more
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Molecular and behavioral consequences of Ube3a gene overdosage in mice [PDF]
JCI Insight, 2022 Chromosome 15q11.2–q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder.
A. Mattijs Punt +14 more
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Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination [PDF]
Frontiers in Physiology, 2019 The ubiquitin E3 ligase UBE3A has been widely reported to interact with the proteasome, but it is still unclear how this enzyme regulates by ubiquitination the different proteasomal subunits.
Nagore Elu +9 more
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Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells. [PDF]
PLoS ONE, 2015 Angelman Syndrome (AS) is a devastating neurodevelopmental disorder characterized by developmental delay, speech impairment, movement disorder, sleep disorders and refractory epilepsy.
Mark D Grier +2 more
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EMBO ReportsUBE3A is a common genetic factor in ASD etiology, and transgenic mice overexpressing UBE3A exhibit typical autistic-like behaviors. Because AMPA receptors (AMPARs) mediate most of the excitatory synaptic transmission in the brain, and synaptic ...
Yuan Tian +4 more
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