Results 91 to 100 of about 5,768 (191)
, 2006 Angelman syndrome (AS) is a neurogenetic disorder characterized by severe neurodevelopmental abnormalities, impaired speech, ataxic gait, and inappropriate laughter.
Colosi, Dan Cristian
core
, 2016 Angelman Syndrome (AS) is a neurodevelopmental disorder caused by loss of the maternal copy of UBE3A. The paternal copy cannot compensate for the loss because it is subject to tissue-specific imprinting in the brain.
Hsiao, Jack Shuo-Hung
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UBE3A and Angelman syndrome: a substrate perspective [PDF]
, 2019 Angelman syndrome (AS) is a human developmental disorder that presents with ataxia, seizures, and major cognitive impairments [1]. Through human genetic studies, it was found that the loss of function of a single ubiquitin ligase, UBE3A, was sufficient ...
Zbinden, Mark
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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
doaj +1 more source
ube3a regulates NMJ synapse growth.
, 2016 (A) Muscle 4 NMJ synapses were double-stained with anti-HRP (green) and anti-CSP (magenta). The precise excision line P95 was used as the wild-type control.
Yong Q. Zhang (399401) +11 more
core +1 more source
Table_1_Detailed Dissection of UBE3A-Mediated DDI1 Ubiquitination.xlsx
, 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.
Ugo Mayor (404331) +8 more
core +1 more source
Genomics, 2001 The imprinted UBE3A gene exhibits maternal-only expression in specific cell types in the brain, but exhibits biallelic expression in other cell types. UBE3A is located adjacent to a cluster of imprinted, paternally expressed genes that are known to be positively regulated by the Prader-Willi syndrome imprinting center (PWS-IC).
Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Box 100266, Gainesville, Florida ( host institution ) +2 more
openaire +3 more sources
The gain-of-function UBE3A Q588E variant causes Angelman-like neurodevelopmental phenotypes in mice
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
doaj +1 more source
O papel da Ube3a no desenvolvimento neuronal [PDF]
Angelman syndrome (AS) is a genetic disorder characterized by paternal imprinting and maternal deletion of Ube3a. Therefore AS patients have reduced levels of expression of Ube3a in several regions of the brain including the hippocampus and cerebellum ...
Resende, Carlos Manuel dos Santos
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Allelic specificity of Ube3a Expression In The Mouse Brain During Postnatal Development
, 2014 Genetic alterations of the maternal UBE3A allele result in Angelman syndrome (AS), a neurodevelopmental disorder characterized by severe developmental delay, lack of speech, and difficulty with movement and balance. The combined effects of maternal UBE3A
Han, Ji Eun +9 more
core +1 more source