Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Daniel Flint"'
Autor:
James E. Goldman, Alice Tang, Michelle L. Olsen, Natasha L. Pacheco, Jiangtao Li, Daniel Flint, Brett S. Phinney, Anthony W. Herren, Fatima Khan, Michael R. Heaven
Publikováno v:
Molecular & cellular proteomics : MCP, vol 21, iss 1
Molecular & Cellular Proteomics : MCP
Molecular & Cellular Proteomics : MCP
Alexander disease (AxD) is a rare and fatal neurodegenerative disorder caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP). In this report, a mouse model of AxD (GFAPTg;Gfap+/R236H) was analyzed that contains a heterozygou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27db73f1a1ae5cb5705d0a860adbda89
https://hdl.handle.net/10919/111277
https://hdl.handle.net/10919/111277
Publikováno v:
Neurochem Res
Astrocytes have a prominent role in metabolic homeostasis of the brain and can signal to adjacent neurons by releasing glutamate via a process of regulated exocytosis. Astrocytes synthesize glutamate de novo owing to the pyruvate entry to the citric/
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b158479f6c71ca5b1c74bf13f77a0e1d
https://pubmed.ncbi.nlm.nih.gov/34057673
https://pubmed.ncbi.nlm.nih.gov/34057673
Autor:
David C. Muddiman, Stephen Barnes, Daniel Flint, Michael Brenner, Shan M. Randall, Landon Wilson, Michael R. Heaven, Alexander A. Sosunov, James E. Goldman
Publikováno v:
Journal of Proteome Research. 15:2265-2282
Alexander disease (AxD) is a neurodegenerative disorder characterized by astrocytic protein aggregates called Rosenthal fibers (RFs). We used mouse models of AxD to determine the protein composition of RFs to obtain information about disease mechanis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff55257931044653ace4d16e1a7e6206
https://doi.org/10.1021/acs.jproteome.6b00316
https://doi.org/10.1021/acs.jproteome.6b00316
Autor:
Scott A. Shaffer, Michelle L. Olsen, Daniel Flint, Leanne M. Holt, David K. Crossman, Michael R. Heaven, Kristin J. Boggio, Natasha L. Pacheco
Publikováno v:
Molecular Autism, Vol 8, Iss 1, Pp 1-24 (2017)
Molecular Autism
Molecular Autism
Background Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MeCP2. Much of our understanding of MeCP2 function is derived from transcriptomic studies with the general assumption that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed5e7579fc3712de5756420c364c0b1f
https://doi.org/10.1186/s13229-017-0174-4
https://doi.org/10.1186/s13229-017-0174-4
Autor:
Marjo S. van der Knaap, James M. Powers, Michael Brenner, Daniel Flint, John F. Mantovani, James E. Goldman, Albee Messing, Sakkubai Naidu, Josef Ekstein, Lital S. Webster, Rong Li, Edwin H. Kolodny, Alan K. Percy
Publikováno v:
Flint, D, Li, R, Webster, L S, Naidu, S, Kolodny, E, Percy, A, van der Knaap, M S, Powers, J M, Mantovani, J F, Ekstein, J, Goldman, J E, Messing, A & Brenner, M 2012, ' Splice site, frameshift, and chimeric GFAP mutations in Alexander disease ', Human Mutation, vol. 33, no. 7, pp. 1141-1148 . https://doi.org/10.1002/humu.22094
Human mutation, 33(7), 1141-1148. Wiley-Liss Inc.
Human Mutation, 33(7), 1141-1148. Wiley-Liss Inc.
Human mutation, 33(7), 1141-1148. Wiley-Liss Inc.
Human Mutation, 33(7), 1141-1148. Wiley-Liss Inc.
Alexander disease (AxD) is a usually fatal astrogliopathy primarily caused by mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes. We describe three patients with unique char
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da689c23a62bf89685c283ded88971b
https://research.vumc.nl/en/publications/1bb00f3a-42e9-4f2f-8d63-bfe151e45962
https://research.vumc.nl/en/publications/1bb00f3a-42e9-4f2f-8d63-bfe151e45962
Autor:
Albee, Messing, Rong, Li, Sakkubai, Naidu, J Paul, Taylor, Lital, Silverman, Daniel, Flint, Marjo S, van der Knaap, Michael, Brenner
Publikováno v:
Archives of neurology. 69(2)
To describe genetic analyses of the 2 most thoroughly studied, historically seminal multigenerational families with Alexander disease described prior to the identification of GFAP as the related gene, as well as 1 newly discovered family.Clinical his
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b5d0b2584d2dd8e96876ecf4500d74da
https://pubmed.ncbi.nlm.nih.gov/21987397
https://pubmed.ncbi.nlm.nih.gov/21987397
Autor:
Paolo Galluzzi, Andrew Lee, Maria Teresa Dotti, Silvia Bianchi, J. Raphael Gorospe, Antonio Federico, Daniel Flint, Camilla D'Eramo, Michael Brenner, Sakkubai Naidu, R. Buccoliero
Alexander disease (AxD) (MIM 203450) is a rare progressive neurological disorder caused by mutation of the GFAP gene (2), with variable clinical features (reviewed in 1). The most common infantile form usually presents before 2 years of age as a mega
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11b8a3b67336848eb38eb6290cd5f50d
http://hdl.handle.net/11365/19506
http://hdl.handle.net/11365/19506
Autor:
Daniel Flint, Michael Brenner, Marjo S. van der Knaap, Rong Li, Lital Silverman, J. Paul Taylor, Albee Messing, Sakkubai Naidu
Publikováno v:
Archives of Neurology. 69:208
Objective To describe genetic analyses of the 2 most thoroughly studied, historically seminal multigenerational families with Alexander disease described prior to the identification of GFAP as the related gene, as well as 1 newly discovered family. D
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9db2ed4cd2f87b6b0a9c94d13496a42
https://doi.org/10.1001/archneurol.2011.1181
https://doi.org/10.1001/archneurol.2011.1181