Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Debra Abramov"'
Autor:
Andrew F. Iannone, Gülcan Akgül, Robin Zhang, Sam Wacks, Nisma Hussein, Carmen Ginelly Macias, Alexander Donatelle, Julia M.J. Bauriedel, Cora Wright, Debra Abramov, Megan A. Johnson, Eve-Ellen Govek, Jacqueline Burré, Teresa A. Milner, Natalia V. De Marco García
Publikováno v:
Cell Reports, Vol 43, Iss 8, Pp 114531- (2024)
Summary: Spontaneous and sensory-evoked activity sculpts developing circuits. Yet, how these activity patterns intersect with cellular programs regulating the differentiation of neuronal subtypes is not well understood. Through electrophysiological a
Externí odkaz:
https://doaj.org/article/e07561a1087342f3a075543052cb6cd3
Autor:
Debra Abramov, Noah Guy Lewis Guiberson, Andrew Daab, Yoonmi Na, Gregory A Petsko, Manu Sharma, Jacqueline Burré
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 1, Pp 1-18 (2020)
Abstract Heterozygous de novo mutations in the neuronal protein Munc18‐1 cause syndromic neurological symptoms, including severe epilepsy, intellectual disability, developmental delay, ataxia, and tremor. No disease‐modifying therapy exists to tr
Externí odkaz:
https://doaj.org/article/e20e7216fd4d484a87e0eeb8cc2e6a45
Autor:
Noah Guy Lewis Guiberson, André Pineda, Debra Abramov, Parinati Kharel, Kathryn E. Carnazza, Rachel T. Wragg, Jeremy S. Dittman, Jacqueline Burré
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)
Munc18-1 is an evolutionary conserved gene whose mutations are linked to various neurological diseases in human. In order to better understand the exact nature of the mutations, the authors here utilize several model systems to show mutant Munc18-1 c
Externí odkaz:
https://doaj.org/article/46814a5c07da4b2497e97fb3a489c145
Autor:
Manu Sharma, Jacqueline Burré, Gregory A. Petsko, Yoonmi Na, Noah Guy Lewis Guiberson, Andrew Daab, Debra Abramov
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 1, Pp n/a-n/a (2021)
EMBO Molecular Medicine
EMBO Molecular Medicine
Heterozygous de novo mutations in the neuronal protein Munc18‐1 cause syndromic neurological symptoms, including severe epilepsy, intellectual disability, developmental delay, ataxia, and tremor. No disease‐modifying therapy exists to treat these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56761b3f4d48d26351f68a9b9c0ed497
https://doi.org/10.15252/emmm.202012354
https://doi.org/10.15252/emmm.202012354
Publikováno v:
J Neurochem
Mutations in Munc18-1/STXBP1 (syntaxin-binding protein 1) are linked to various severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous mutations in the STXBP1 gene include missense, nonsense, frameshift, and splice sit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf5b7e7b68095d4949d17d180c45e95
https://pubmed.ncbi.nlm.nih.gov/32643187
https://pubmed.ncbi.nlm.nih.gov/32643187
Autor:
André Pineda, Parinati Kharel, Rachel T. Wragg, Noah Guy Lewis Guiberson, Jacqueline Burré, Debra Abramov, Kathryn E. Carnazza, Jeremy S. Dittman
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-18 (2018)
Nature Communications
Nature Communications
Heterozygous de novo mutations in the neuronal protein Munc18-1 are linked to epilepsies, intellectual disability, movement disorders, and neurodegeneration. These devastating diseases have a poor prognosis and no known cure, due to lack of understan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7fdc0c1cd20ca449b7d6b3e478fa122
https://doaj.org/article/46814a5c07da4b2497e97fb3a489c145
https://doaj.org/article/46814a5c07da4b2497e97fb3a489c145