Výsledky vyhledávání - "Ellen P, Clark"

Akademický článek

A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance

Autor: Hyeong-Min Lee, M. Bram Kuijer, Nerea Ruiz Blanes, Ellen P. Clark, Megumi Aita, Lorena Galiano Arjona, Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Sanchita Bhatnagar, Benjamin D. Philpot, Andrea Cerase

Publikováno v: Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)

Abstract Background Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological

Externí odkaz: https://doaj.org/article/f1d6c74a535f4002b4d27d4a54f485ae

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Akademický článek

Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome

Autor: Hyeong-Min Lee, Ellen P. Clark, M. Bram Kuijer, Mark Cushman, Yves Pommier, Benjamin D. Philpot

Publikováno v: Molecular Autism, Vol 9, Iss 1, Pp 1-10 (2018)

Abstract 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

Externí odkaz: https://doaj.org/article/c541caeabe464ea5a476b5d7d069d82a

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Akademický článek

Texas Voices Speak out about High-Stakes Testing: Preservice Teachers, Teachers, and Students

Autor: Belinda Bustos Flores, Ellen Riojas Clark

Publikováno v: Current Issues in Education, Vol 6 (2015)

Although teachers and students are directly impacted by high-stakes testing policy mandates, their opinion is often left out during the decision-making process. As future educators, preservice teachers are also affected by these mandates; thus far, t

Externí odkaz: https://doaj.org/article/9a2e2e2d15804b4bb180b477b44e32f0

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Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice

Autor: Marie Rougie, Kelly E. Carstens, Bin Gu, Ellen P. Clark, Benjamin D. Philpot, Matthew C. Judson, Serena M. Dudek, Katherine A Dalton

Publikováno v: Journal of Clinical Investigation. 129:163-168

Angelman syndrome (AS) is a neurodevelopmental disorder in which epilepsy is common (~90%) and often refractory to antiepileptics. AS is caused by mutation of the maternal allele encoding the ubiquitin protein ligase E3A (UBE3A), but it is unclear ho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7064d3d4ce8f2e74e03d1216178ffff
https://doi.org/10.1172/jci120816

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Common Pathophysiology in Multiple Mouse Models of Pitt–Hopkins Syndrome

Autor: Benjamin D. Philpot, Courtney Thaxton, Sheryl S. Moy, Alexander D. Kloth, Ellen P. Clark, Raymond A. Chitwood

Publikováno v: The Journal of Neuroscience. 38:918-936

Mutations or deletions of the transcription factorTCF4are linked to Pitt–Hopkins syndrome (PTHS) and schizophrenia, suggesting that the precise pathogenic mutations dictate cellular, synaptic, and behavioral consequences. Here, we generated two nov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6476c15e62b7ce43803b840d14a01d5
https://doi.org/10.1523/jneurosci.1305-17.2017

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A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance

Autor: Agnieszka Kokot, Noah Sciaky, Jeremy M. Simon, Hyeong-Min Lee, Lorena Galiano Arjona, Nerea Ruiz Blanes, M. Bram Kuijer, Andrea Cerase, Benjamin D. Philpot, Ellen P. Clark, Sanchita Bhatnagar, Megumi Aita

Publikováno v: Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-11 (2020)
Journal of neurodevelopmental disorders, vol 12, iss 1

Background Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological defects.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1756507511338468812543b6ec88c8da
http://hdl.handle.net/11568/1121003

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Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome

Autor: Mark Cushman, Ellen P. Clark, M. Bram Kuijer, Yves Pommier, Benjamin D. Philpot, Hyeong Min Lee

Publikováno v: Molecular Autism, Vol 9, Iss 1, Pp 1-10 (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 e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::602ffe97ec13969dc2c4b34d1fe9199b
https://doi.org/10.1186/s13229-018-0228-2

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