Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Catherine, Douthwright"'
Autor:
Gopinath Krishnan, Denitza Raitcheva, Daniel Bartlett, Mercedes Prudencio, Diane M. McKenna-Yasek, Catherine Douthwright, Björn E. Oskarsson, Shafeeq Ladha, Oliver D. King, Sami J. Barmada, Timothy M. Miller, Robert Bowser, Jonathan K. Watts, Leonard Petrucelli, Robert H. Brown, Mark W. Kankel, Fen-Biao Gao
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-8 (2022)
The GGGGCC repeat expansion in C9ORF72-ALS/FTD can be translated into five dipeptide repeat (DPR) proteins, including poly(GR) and poly(GA). Here, the authors develop assays to detect the levels of these DPR proteins in the CSF of individuals with AL
Externí odkaz:
https://doaj.org/article/7bbca0a96b9d4736acc9cdb625fcce18
Autor:
Terence R. Flotte, Oguz Cataltepe, Ajit Puri, Ana Rita Batista, Richard Moser, Diane McKenna-Yasek, Catherine Douthwright, Gwladys Gernoux, Meghan Blackwood, Christian Mueller, Phillip W. L. Tai, Xuntian Jiang, Scot Bateman, Spiro G. Spanakis, Julia Parzych, Allison M. Keeler, Aly Abayazeed, Saurabh Rohatgi, Laura Gibson, Robert Finberg, Bruce A. Barton, Zeynep Vardar, Mohammed Salman Shazeeb, Matthew Gounis, Cynthia J. Tifft, Florian S. Eichler, Robert H. Brown, Douglas R. Martin, Heather L. Gray-Edwards, Miguel Sena-Esteves
Publikováno v:
Nature Medicine. 28:251-259
Tay-Sachs disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Here, we describe an adeno-associated virus (AAV) gene therapy expanded-access trial in two patients with infantile TSD (IND 18225) with sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4567d7f2bef6d95855c4eeb25eee87d
https://doi.org/10.1038/s41591-021-01664-4
https://doi.org/10.1038/s41591-021-01664-4
Publikováno v:
Cells, Vol 10, Iss 2, p 249 (2021)
Since the discovery of the chromosome 9 open reading frame 72 (C9orf72) repeat expansion mutation in 2011 as the most common genetic abnormality in amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease) and frontotemporal dementia
Externí odkaz:
https://doaj.org/article/8a002479f86d4af393ef6712ef3e0c32
Autor:
Meenakshi Sundaram Kumar, Megan E. Fowler-Magaw, Daniel Kulick, Sivakumar Boopathy, Del Hayden Gadd, Melissa Rotunno, Catherine Douthwright, Diane Golebiowski, Issa Yusuf, Zuoshang Xu, Robert H. Brown, Miguel Sena-Esteves, Alison L. O'Neil, Daryl A. Bosco
Publikováno v:
International Journal of Molecular Sciences; Volume 23; Issue 24; Pages: 16013
ALS-linked mutations induce aberrant conformations within the SOD1 protein that are thought to underlie the pathogenic mechanism of SOD1-mediated ALS. Although clinical trials are underway for gene silencing of SOD1, these approaches reduce both wild
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32a7f23858013ea7304d1792dde76a0a
Autor:
Nicholas Wightman, Merit Cudkowicz, Margaret A. Owegi, Dario Gelevski, Gwladys Gernoux, Meghan Blackwood, Christian Mueller, James D. Berry, Sarah Luppino, Catherine Douthwright, Robert H. Brown, Terrence R. Flotte, Derek H. Oakley, Diane McKenna-Yasek, Lindsay Pothier, Matthew P. Frosch
Publikováno v:
New England Journal of Medicine. 383:151-158
Two patients with familial amyotrophic lateral sclerosis (ALS) and mutations in the gene encoding superoxide dismutase 1 (SOD1) were treated with a single intrathecal infusion of adeno-associated virus encoding a microRNA targeting SOD1. In Patient 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f616bbeff3f5d1853c06edb19934f1bc
https://doi.org/10.1056/nejmoa2005056
https://doi.org/10.1056/nejmoa2005056
Autor:
Colin Quinn, Corey T. McMillan, Namita Goyal, Kelly Almasy, Diane McKenna-Yasek, Margaret A. Owegi, Catherine Douthwright, James D. Berry, Robert H. Brown
Publikováno v:
Amyotrophic lateral sclerosisfrontotemporal degeneration. 22(sup1)
Objective: To measure the correlation between single breath counting (SBC) and forced vital capacity (liters, FVCL) in amyotrophic lateral sclerosis (ALS) patients and to define the utility of SBC ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0fae34029031007dff36d7639416242
https://pubmed.ncbi.nlm.nih.gov/34348533
https://pubmed.ncbi.nlm.nih.gov/34348533
Autor:
Sonia Boodram, Amber Salter, Robert H. Baloh, Diane McKenna-Yasek, Matthew B. Harms, Thomas J. Esparza, Theodore Hyman, Robert H. Brown, Caroline Drain, Nicholas Wightman, Carlos Cruchaga, Alzheimer’s Disease Neuroimaging Initiative, Leonard H. van den Berg, Toby A. Ferguson, Jan H. Veldink, Alexander Sherman, Michael A. van Es, Hong Yu, Catherine Douthwright, Jennifer Jockel-Balsarotti, Merit Cudkowicz, Alexander McCampbell, Margaret A. Owegi, Timothy M. Miller, Nazem Atassi, Amber Malcolm, Alexander J. Cammack, Bálint S de Vries, Jeffrey D. Rothstein
Publikováno v:
Neurology. 93:e1605-e1617
ObjectiveTo define the natural history of the C9orf72 amyotrophic lateral sclerosis (C9ALS) patient population, develop disease biomarkers, and characterize patient pathologies.MethodsWe prospectively collected clinical and demographic data from 116
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddc96232b3c87150081db892edd8e7c7
https://doi.org/10.1212/wnl.0000000000008359
https://doi.org/10.1212/wnl.0000000000008359
Autor:
Ana Rita Batista, Mohammed Salman Shazeeb, Richard P. Moser, Robert H. Brown, Florian Eichler, Spiro Spanakis, Miguel Sena-Esteves, Laura Gibson, Matthew J. Gounis, Christian Mueller, Xuntian Jiang, Oguz Cataltepe, Allison M. Keeler, Bruce A. Barton, Catherine Douthwright, Diane McKenna-Yasek, Scot Bateman, Saurabh Rohatgi, Heather L. Gray-Edwards, Z Vardar, Aly Abayazeed, Terence R. Flotte, Julia Parzych, Robert W. Finberg, Meghan Blackwood, Douglas R. Martin, Gwladys Gernoux, Ajit S. Puri
Tay-Sachs Disease (TSD) is an inherited neurological disorder caused by deficiency of hexosaminidase A (HexA). Preclinical work demonstrated safety and efficacy of CNS gene therapy using AAVrh8-HEXA/HEXB. Here we describe an expanded access trial in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eb434a3336893bbf1437fc36aa8a7bb0
https://doi.org/10.21203/rs.3.rs-195847/v1
https://doi.org/10.21203/rs.3.rs-195847/v1
Autor:
Ajit S. Puri, Helene Tran, Thomas Kenderdine, Robert Bowser, Dan Fabris, Huiya Yang, Catherine Douthwright, Robert M Brown, Jonathan K. Watts, Robert M. King, Alexandra Weiss, Jake Metterville, Heather L. Gray-Edwards, M Marosfoi, Michael P. Moazami, Diane McKenna-Yasek, Courtney Pinto, Minwook Shin, Craig Dooley, Nitasha Sanil, Nichols Wightman
Expansions of a G4C2 repeat in the C9ORF72 gene are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two devastating adult-onset neurodegenerative disorders. Proposed disease mechanisms include a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4669fa026cb2d1644bb2d30cdc512442
https://doi.org/10.21203/rs.3.rs-211236/v1
https://doi.org/10.21203/rs.3.rs-211236/v1
Publikováno v:
Cells, Vol 10, Iss 249, p 249 (2021)
Cells
Cells
Since the discovery of the chromosome 9 open reading frame 72 (C9orf72) repeat expansion mutation in 2011 as the most common genetic abnormality in amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig’s disease) and frontotemporal dementia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bab7d90f46be7051f12a9d9dd6255c1
https://www.mdpi.com/2073-4409/10/2/249
https://www.mdpi.com/2073-4409/10/2/249