Loss of UBE3A impacts both neuronal and non-neuronal cells in human cerebral organoids [PDF]
Communications BiologyAngelman syndrome is a neurodevelopmental disorder caused by (epi)genetic lesions of maternal UBE3A. Research has focused largely on the role of UBE3A in neurons due to its imprinting in that cell type.
R. Chris Estridge +7 more
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Ube3a unsilencer for the potential treatment of Angelman syndrome
Nature CommunicationsDeletion of the maternal UBE3A allele causes Angelman syndrome (AS); because paternal UBE3A is epigenetically silenced by a long non-coding antisense (UBE3A-ATS) in neurons, this nearly eliminates UBE3A protein in the brain.
Hanna Vihma +13 more
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The gain-of-function UBE3A Q588E variant causes Angelman-like neurodevelopmental phenotypes in mice [PDF]
Scientific ReportsMutations in the E3 ubiquitin ligase UBE3A that cause enzymatic gain-of-function result in disease phenotypes which differ from classic Angelman syndrome. However, these phenotypes are highly heterogeneous raising questions about the mechanistic basis of
Kellan P. Weston +12 more
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Ubiquitin-protein ligase E3A (UBE3A) mediation of viral infection and human diseases
Virus Research, 2023 The Ubiquitin-protein ligase E3A, UBE3A, also known as E6-associated protein (E6-AP), is known to play an essential role in regulating the degradation of various proteins by transferring Ub from E2 Ub conjugating enzymes to the substrate proteins ...
Pankaj Chaudhary +2 more
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Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome [PDF]
Journal of Neurodevelopmental DisordersBackground Angelman syndrome (AS) is a single-gene neurodevelopmental disorder caused by loss of function of the maternal copy of the UBE3A gene. Nearly all individuals with AS lack speech, resulting in major impacts on daily life for patients and ...
Caleigh D. Guoynes +2 more
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Abundance and localization of human UBE3A protein isoforms [PDF]
Human Molecular Genetics, 2020 AbstractLoss ofUBE3A expression,a gene regulated by genomic imprinting, causes Angelman Syndrome (AS), a rare neurodevelopmental disorder. TheUBE3Agene encodes an E3 ubiquitin ligase with three known protein isoforms in humans. Studies in mouse suggest that the human isoforms may have differences in localization and neuronal function.
Carissa L. Sirois +7 more
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Loss of Drosophila <i>UBE3A</i> phenocopies Piezo dysfunction and drives hyperphagic feeding in Drosophila. [PDF]
Fly (Austin)Geier B, Neely L, Coronado E, Reiter LT.
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Dietary Intake of Octanoic Acid Restores UBE3A Expression and Improves the Behavioral Phenotypes in a Mouse Model of Angelman Syndrome. [PDF]
FASEB JQu S +7 more
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Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans [PDF]
Nucleic Acids Research, 2005 Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, 'puppet-like' ataxic gait with jerky arm movements, seizures, EEG abnormalities, hyperactivity and bouts of inappropriate laughter. Individuals with AS fail to inherit a normal active maternal copy of the gene encoding ubiquitin protein ligase E3A (UBE3A ...
Landers, Miguel +5 more
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Localization of human UBE3A isoform 3 is highly sensitive to amino acid substitutions at p.Met21 position. [PDF]
Hum Mol Genetvan Esbroeck ACM +5 more
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