Results 101 to 110 of about 5,768 (191)
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome
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
doaj +1 more source
Proteomics analysis of an UBE3A knockout mouse modelling Angelman syndrome
, 2014 Angelman syndrome is a neurobehavioral disease associated with the loss of maternally expressed E3 ubiquitin protein ligase, Ube3a. Ube3a gene is biallelically expressed in all tissue except cerebellum, Purkinje cells and hippocampus, in which Ube3a is ...
Low, Hai Loon
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Ube3a expression time course in cortical lysates.
, 2015 A). Representative data for expression of Ube3a in P0, P3, P6 and P42 cortical lysates. B) Quantification of Ube3a expression at various time points.
Robert P. Carson (421654) +2 more
core +1 more source
Neurobiology of DiseaseThe ubiquitin-proteasome pathway (UPP) plays a crucial role in cellular homeostasis by regulating protein degradation. UBE3A, an E3 ubiquitin ligase encoded by the UBE3A gene, is maternally expressed in neurons and linked to neurodevelopmental disorders ...
Pooja Kri Gupta +2 more
doaj +1 more source
Persistent neuronal Ube3a expression in the suprachiasmatic nucleus of Angelman syndrome model mice
, 2016 Mutations or deletions of the maternal allele of the UBE3A gene cause Angelman syndrome (AS), a severe neurodevelopmental disorder. The paternal UBE3A/Ube3a allele becomes epigenetically silenced in most neurons during postnatal development in humans and
Han, Ji Eun +3 more
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, 2013 (A) The expression profile of genes in the PWS/AS region was assessed by qRT-PCR in cortices from WT mice and mice inheriting Ube3aATS-stop maternally (ATS-stop/+) or paternally (+/ATS-stop). One set of primers were designed to target Ube3a-ATS at loci 5′
Ping Jun Zhu (502325) +5 more
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Molecular Autism, 2019 Background Although neuronal extracellular sensing is emerging as crucial for brain wiring and therefore plasticity, little is known about these processes in neurodevelopmental disorders.
Ilaria Tonazzini +5 more
doaj +1 more source
Ube3a is not imprinted in cultured astrocytes.
, 2015 A) Representative data from enriched astrocyte cultures showing expression of Ube3a and high expression of GFAP, confirming astrocyte enrichment. B) Quantification of data showing an approximately 50% reduction in Ube3a in cultured astrocytes from AS ...
Robert P. Carson (421654) +2 more
core +1 more source
Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome
Emerging therapies for Angelman syndrome, a severe neurodevelopmental disorder, are focused on restoring UBE3A gene expression in the brain. Further therapeutic opportunities may arise from a better understanding of how UBE3A gene products-both long and ...
Philpot, Benjamin D +2 more
core +1 more source