Results 41 to 50 of about 9,461 (226)
Genomic imprinting does not reduce the dosage of UBE3A in neurons
Epigenetics & Chromatin, 2017 Background The ubiquitin protein E3A ligase gene (UBE3A) gene is imprinted with maternal-specific expression in neurons and biallelically expressed in all other cell types.
Paul R. Hillman +8 more
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UBE3A/E6-AP mutations cause Angelman syndrome [PDF]
Nature Genetics, 1996 Angelman syndrome (AS), characterized by mental retardation, seizures, frequent smiling and laughter, and abnormal gait, is one of the best examples of human disease in which genetic imprinting plays a role. In about 70% of cases, AS is caused by de novo maternal deletions at 15q11-q13 (ref. 2).
T, Kishino, M, Lalande, J, Wagstaff
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Protein Delivery of an Artificial Transcription Factor Restores Widespread Ube3a Expression in an Angelman Syndrome Mouse Brain. [PDF]
, 2016 Angelman syndrome (AS) is a neurological genetic disorder caused by loss of expression of the maternal copy of UBE3A in the brain. Due to brain-specific genetic imprinting at this locus, the paternal UBE3A is silenced by a long antisense transcript ...
Adams, Alexa N +9 more
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Antisense oligonucleotides targeting UBE3A-ATS restore expression of UBE3A by relieving transcriptional interference [PDF]
, 2021 AbstractAngelman syndrome (AS) is a rare neurodevelopmental disorder caused by loss of function of the maternally inherited UBE3A allele. In neurons, the paternal allele of UBE3A is silenced in cis by the long noncoding RNA, UBE3A-ATS. Unsilencing paternal UBE3A by reducing UBE3A-ATS is a promising therapeutic approach for the treatment of AS.
Noelle D. Germain +8 more
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Neurobiology of Disease, 2010 Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin–protein ligase, UBE3A.
Richard M. Gustin +9 more
doaj +1 more source
Molecular Autism, 2018 Background Angelman syndrome (AS) is a severe neurodevelopmental disorder lacking effective therapies. AS is caused by mutations in ubiquitin protein ligase E3A (UBE3A), which is genomically imprinted such that only the maternally inherited copy is ...
Hyeong-Min Lee +5 more
doaj +1 more source
JCI Insight, 2023 Angelman syndrome (AS) is a severe neurodevelopmental disorder (NDD) caused by loss of functional ubiquitin protein ligase E3A (UBE3A). Previous studies showed that UBE3A plays an important role in the first postnatal weeks of mouse brain development ...
Diana C. Rotaru +4 more
doaj +1 more source
A role for transcriptional repressor methyl-CpG-binding protein 2 and plasticity-related gene serum- and glucocorticoid-inducible kinase 1 in the induction of inflammatory pain states [PDF]
, 2007 Activity-dependent changes in neurons of the rat superficial dorsal horn are crucial for the induction and maintenance of neuropathic and inflammatory pain states.
Geranton, SM +2 more
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Autism genetics: searching for specificity and convergence. [PDF]
, 2012 Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these ...
Berg, Jamee M, Geschwind, Daniel H
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UBE3A reinstatement as a disease‐modifying therapy for Angelman syndrome [PDF]
Developmental Medicine & Child Neurology, 2021 Half a century ago, Harry Angelman reported three patients with overlapping clinical features, now well known as Angelman syndrome. Angelman syndrome is caused by mutations affecting the maternally inherited UBE3A gene, which encodes an E3‐ubiquitin ligase that is critical for typical postnatal brain development.
Ype Elgersma, Monica Sonzogni
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