Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lilach Simchi"'
Autor:
Lilach Simchi, Hanoch Kaphzan
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract Angelman syndrome (AS) is a genetic neurodevelopmental disorder due to the absence of the E3-ligase protein, UBE3A. Inappropriate social interactions, usually hyper-sociability, is a part of that syndrome. In addition, clinical surveys and c
Externí odkaz:
https://doaj.org/article/7bcad72e3bcd46139e74d270f66bdaac
Publikováno v:
Molecular Psychiatry.
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder caused by the maternally inherited loss of function of the UBE3A gene. AS is characterized by a developmental delay, lack of speech, motor dysfunction, epilepsy, autistic features,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::46519d076affd775380c0e1b119fa130
https://doi.org/10.1038/s41380-023-02038-7
https://doi.org/10.1038/s41380-023-02038-7
Autor:
Lital Sharvit, Yonatan Feuermann, Lilach Simchi, Julia Panov, Prudhvi Raj Rayi, Hanoch Kaphzan, Lee Koyavski
Publikováno v:
Molecular Neurobiology. 56:5998-6016
Angelman syndrome (AS) is a genetic disorder which entails autism, intellectual disability, lack of speech, motor deficits, and seizure susceptibility. It is caused by the lack of UBE3A protein expression, which is an E3-ubiquitin ligase. Despite AS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7aa9e6b462923aedf8dd7f267dad73e
https://doi.org/10.1007/s12035-019-1503-8
https://doi.org/10.1007/s12035-019-1503-8
Autor:
Lilach Simchi, Hanoch Kaphzan
Publikováno v:
Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Angelman syndrome (AS) is a genetic neurodevelopmental disorder due to the absence of the E3-ligase protein, UBE3A. Inappropriate social interactions, usually hyper-sociability, is a part of that syndrome. In addition, clinical surveys and case repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d94fdc00d4825c945459de42ce0518a
https://pubmed.ncbi.nlm.nih.gov/33420192
https://pubmed.ncbi.nlm.nih.gov/33420192
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 4156, p 4156 (2020)
International Journal of Molecular Sciences
Volume 21
Issue 11
International Journal of Molecular Sciences
Volume 21
Issue 11
The UBE3A gene encodes the ubiquitin E3-ligase protein, UBE3A, which is implicated in severe neurodevelopmental disorders. Lack of UBE3A expression results in Angelman syndrome, while UBE3A overexpression, due to genomic 15q duplication, results in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04427107e173d2cda965bf968636d2aa
https://www.mdpi.com/1422-0067/21/11/4156
https://www.mdpi.com/1422-0067/21/11/4156
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 1573, p 1573 (2020)
Journal of Clinical Medicine; Volume 9; Issue 5; Pages: 1573
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 5; Pages: 1573
Journal of Clinical Medicine
The UBE3A gene codes for a protein with two known functions, a ubiquitin E3-ligase which catalyzes ubiquitin binding to substrate proteins and a steroid hormone receptor coactivator. UBE3A is most famous for its critical role in neuronal functioning.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c8a5f26ee9f930a99a96f989af29717
https://www.mdpi.com/2077-0383/9/5/1573
https://www.mdpi.com/2077-0383/9/5/1573