Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Noelle D, Germain"'
Autor:
James J. Fink, Tiwanna M. Robinson, Noelle D. Germain, Carissa L. Sirois, Kaitlyn A. Bolduc, Amanda J. Ward, Frank Rigo, Stormy J. Chamberlain, Eric S. Levine
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
Angelman syndrome (AS) is characterized by developmental delay and intellectual disability, but the underlying pathophysiology is not well understood. Here the authors use induced pluripotent stem cell-derived neurons from AS patients and find impair
Externí odkaz:
https://doaj.org/article/1375ce3c32de4a919e6c93e690fd3493
Publikováno v:
Molecular Aspects of Medicine. 91:101148
Advances in genome sequencing have greatly facilitated the identification of genomic variants underlying rare neurodevelopmental and neurodegenerative disorders. Understanding the fundamental causes of rare monogenic disorders has made gene therapy a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7155da2b3dfd154d06651fffd1b4d0b
https://doi.org/10.1016/j.mam.2022.101148
https://doi.org/10.1016/j.mam.2022.101148
Autor:
Dea Gorka, Noelle D. Germain, Clémence M Dupont-Thibert, Stormy J. Chamberlain, Michael S Chung, Christopher E Stoddard, Marc Lalande, Leann Crandall, Heather Glatt-Deeley, Justin Cotney, Maéva Langouët, Clarisse Orniacki
Publikováno v:
Hum Mol Genet
Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, developmental delay, and hyperphagia/obesity. This disorder is caused by the absence of paternally-expressed gene products from chromosome 15q11-q13. We previously demonstrated that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e090dcc69a9af64abdc62919e92d22d8
https://doi.org/10.1093/hmg/ddaa210
https://doi.org/10.1093/hmg/ddaa210
Autor:
Frank Rigo, Whipple A, Drennan R, Dea Gorka, Eric S. Levine, Noelle D. Germain, Stormy J. Chamberlain, Leighton J. Core, Jafar-nejad P
Angelman 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 U
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3183cd815b38f7317eeb7c16c88668a0
https://doi.org/10.1101/2021.07.09.451826
https://doi.org/10.1101/2021.07.09.451826
Publikováno v:
Adv Neurobiol
Advances in Neurobiology ISBN: 9783030454920
Advances in Neurobiology ISBN: 9783030454920
The chromosome 15q11-q13 region of the human genome is regulated by genomic imprinting, an epigenetic phenomenon in which genes are expressed exclusively from one parental allele. Several genes within the 15q11-q13 region are expressed exclusively fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a17daca9325eff49404846333ad856
https://pubmed.ncbi.nlm.nih.gov/32578144
https://pubmed.ncbi.nlm.nih.gov/32578144
Autor:
Noelle D. Germain, Justin Cotney, Christopher Stoddard, Stormy J. Chamberlain, Andrea Wilderman, Jack S. Hsiao, Geno J Villafano, Leighton J. Core, Luke A Wojenski
Publikováno v:
Proceedings of the National Academy of Sciences. 116:2181-2186
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from the maternal allele of UBE3A , a gene encoding an E3 ubiquitin ligase. UBE3A is only expressed from the maternally inherited allele in mature human neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0711ad5925222d31c1c00317c427ef65
https://doi.org/10.1073/pnas.1815279116
https://doi.org/10.1073/pnas.1815279116
Autor:
Carissa L. Sirois, Noelle D. Germain, Stormy J. Chamberlain, Dea Gorka, Judy E. Bloom, Steffen Keller, Eric S. Levine, James J Fink
Publikováno v:
Hum Mol Genet
Loss of UBE3A expression, a gene regulated by genomic imprinting, causes Angelman Syndrome (AS), a rare neurodevelopmental disorder. The UBE3A gene encodes an E3 ubiquitin ligase with three known protein isoforms in humans. Studies in mouse suggest t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::462e7182557ff8cbd98f63b926854582
https://doi.org/10.1101/2020.03.30.016857
https://doi.org/10.1101/2020.03.30.016857
Publikováno v:
Cell Reports Medicine
Summary Angelman syndrome (AS) is a neurodevelopmental disorder caused by the loss of maternal UBE3A, a ubiquitin protein ligase E3A. Here, we study neurons derived from patients with AS and neurotypical individuals, and reciprocally modulate UBE3A u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0afa0c75bb0545d91e907124dc3f87
https://doi.org/10.1016/j.xcrm.2021.100377
https://doi.org/10.1016/j.xcrm.2021.100377
Autor:
Andrea Wilderman, Justin Cotney, Leighton J. Core, Noelle D. Germain, Geno J Villafano, Christopher Stoddard, Stormy J. Chamberlain, Jack S. Hsiao, Luke A Wojenski
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by the loss of function from the maternal allele of UBE3A, a gene encoding an E3 ubiquitin ligase. UBE3A is only expressed from the maternally-inherited allele in mature human neur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::726b3dc6cd05137f66fb185c585f9355
Autor:
Carissa L. Sirois, Stormy J. Chamberlain, Noelle D. Germain, Frank Rigo, Eric S. Levine, Kaitlyn A. Bolduc, Tiwanna M. Robinson, James J. Fink, Amanda J. Ward
Publikováno v:
Nature Communications
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
Nature Communications, Vol 8, Iss 1, Pp 1-14 (2017)
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf3b0c2b9348e867259c83ba4b374255
http://europepmc.org/articles/PMC5413969
http://europepmc.org/articles/PMC5413969