Zobrazeno 1 - 10
of 82
pro vyhledávání: '"David F. Fischer"'
Autor:
David F Fischer, Sipke Dijkstra, Kimberly Lo, Johnny Suijker, Ana C P Correia, Patricia Naud, Martin Poirier, Michela A Tessari, Ivette Boogaard, Geraldine Flynn, Mijke Visser, Marieke B A C Lamers, George McAllister, Ignacio Munoz-Sanjuan, Douglas Macdonald
Publikováno v:
PLoS ONE, Vol 17, Iss 4, p e0266812 (2022)
Huntington's disease (HD) is caused by an expansion of the CAG trinucleotide repeat domain in the huntingtin gene that results in expression of a mutant huntingtin protein (mHTT) containing an expanded polyglutamine tract in the amino terminus. A num
Externí odkaz:
https://doaj.org/article/d40329dcbdbd4ce6b214f506ecdfe85c
Autor:
Blanca, Torroba, Natsuko, Macabuag, Elisabeth M, Haisma, Amy, O'Neill, Maria E, Herva, Roxana S, Redis, Michael V, Templin, Lauren E, Black, David F, Fischer
Publikováno v:
Expert Opinion on Drug Discovery. 18:181-192
Spinal Muscular Atrophy (SMA), the second most prevalent autosomal genetic disease affecting infants, is caused by the lack ofThis manuscript will cover two of the three mechanistically distinct available treatment options for SMA, both targeting the
Autor:
Erika N Sutanto, Amelia Scaffidi, Luke W Garratt, Kevin Looi, Clara J Foo, Michela A Tessari, Richard A Janssen, David F Fischer, Stephen M Stick, Anthony Kicic, AREST CF
Publikováno v:
PLoS ONE, Vol 13, Iss 1, p e0191618 (2018)
Mutations in the cystic fibrosis transmembrane regulator (CFTR) gene can reduce function of the CFTR ion channel activity and impair cellular chloride secretion. The gold standard method to assess CFTR function of ion transport using the Ussing chamb
Externí odkaz:
https://doaj.org/article/7ccb2803f8194d08862579e128f80894
Autor:
Davina J Hensman Moss, Nicola Robertson, Ruth Farmer, Rachael I Scahill, Salman Haider, Michela A Tessari, Geraldine Flynn, David F Fischer, Edward J Wild, Douglas Macdonald, Sarah J Tabrizi
Publikováno v:
PLoS ONE, Vol 12, Iss 12, p e0189891 (2017)
BackgroundHuntington's disease (HD) is an autosomal dominant neurodegenerative condition caused by an expanded CAG repeat in the gene encoding huntingtin (HTT). Optimizing peripheral quantification of huntingtin throughout the course of HD is valuabl
Externí odkaz:
https://doaj.org/article/69dc0fa445cd4ae2b1e1251644f48668
Autor:
Daniel Todd, Ian Gowers, Simon J Dowler, Michael D Wall, George McAllister, David F Fischer, Sipke Dijkstra, Silvina A Fratantoni, Rhea van de Bospoort, Jessica Veenman-Koepke, Geraldine Flynn, Jamshid Arjomand, Celia Dominguez, Ignacio Munoz-Sanjuan, John Wityak, Jonathan A Bard
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e87923 (2014)
Huntington's disease (HD) is a devastating, genetic neurodegenerative disease caused by a tri-nucleotide expansion in exon 1 of the huntingtin gene. HD is clinically characterized by chorea, emotional and psychiatric disturbances and cognitive defici
Externí odkaz:
https://doaj.org/article/d83601f6876548ceb4a63a9380b25670
Autor:
Douglas Macdonald, Michela A Tessari, Ivette Boogaard, Melanie Smith, Kristiina Pulli, Agnieszka Szynol, Faywell Albertus, Marieke B A C Lamers, Sipke Dijkstra, Daniel Kordt, Wolfgang Reindl, Frank Herrmann, George McAllister, David F Fischer, Ignacio Munoz-Sanjuan
Publikováno v:
PLoS ONE, Vol 9, Iss 5, p e96854 (2014)
The expansion of a CAG trinucleotide repeat in the huntingtin gene, which produces huntingtin protein with an expanded polyglutamine tract, is the cause of Huntington's disease (HD). Recent studies have reported that RNAi suppression of polyglutamine
Externí odkaz:
https://doaj.org/article/655c74cb49f44a9da8ae9d1d8e16f626
Autor:
Sharyn L Rossi, Gabriel Nistor, Tanya Wyatt, Hong Zhen Yin, Aleksandra J Poole, John H Weiss, Matthew J Gardener, Sipke Dijkstra, David F Fischer, Hans S Keirstead
Publikováno v:
PLoS ONE, Vol 5, Iss 7, p e11852 (2010)
Motor neuron loss is characteristic of cervical spinal cord injury (SCI) and contributes to functional deficit.In order to investigate the amenability of the injured adult spinal cord to motor neuron differentiation, we transplanted spinal cord injur
Externí odkaz:
https://doaj.org/article/06ae6c3086d5478cafd3f49405e9c3b1
Autor:
Marieke Lamers, Grant Wishart, Karen Barnes, Graham D. Smith, Ivan Angulo-Herrera, Sarah L. Martin, Rebecca E. Jarvis, Wesley Blackaby, Philip Leonard, Ovadia Lazari, Leticia Toledo-Sherman, David F. Fischer, Maria Eznarriaga, Simon J. Dowler, George McAllister, Rhea van de Bospoort, Dawn Yates, Annelieke Strijbosch, Helen C. Cox, Jennifer R. Bate, Esmieu William R K, Amanda Van de Poël, Roger Cachope, Sung-Wook Jang, Perla Breccia, Celia Dominguez, Mark Rose, Kim L. Matthews, Huw D. Vater, Stephen D. Penrose, Ignacio Munoz-Sanjuan
Publikováno v:
Journal of medicinal chemistry. 62(6)
Genetic and pharmacological evidence indicates that the reduction of ataxia telangiectasia-mutated (ATM) kinase activity can ameliorate mutant huntingtin (mHTT) toxicity in cellular and animal models of Huntington's disease (HD), suggesting that sele
Autor:
David F. Fischer, Ruishuang Geng, Daniel H-C Chen, Krista Ouwehand, Esmieu William R K, Krzysztof Palczewski, Masaru Miyagi, Faywell Albertus, Suhasini R. Gopal, Andrew Pate Owens, Guilian Tian, Roland Bürli, Yoshikazu Imanishi, Angus M MacLeod, Kumar N. Alagramam, Nicola A Lindsay, Richard Lee, William E. Harte, Ina Nemet, Karine Fabienne Malagu, Christopher James Lock
Publikováno v:
Nature Chemical Biology. 12:444-451
Usher syndrome type III (USH3), characterized by progressive deafness, variable balance disorder and blindness, is caused by destabilizing mutations in the gene encoding the clarin-1 (CLRN1) protein. Here we report a new strategy to mitigate hearing
Autor:
Jeroen DeGroot, Britt Sotthewes, Jeska K de Vries-Bouwstra, Kejie Li, Patrick Cullen, Joanne L. Viney, Agnes Gardet, Jamil Aarbiou, Marc Cheung, S.N. Andersen, Tom W J Huizinga, Timothy S. Zheng, Ellen Cahir-McFarland, David F. Fischer, Annemarie L. Dorjée, Loubna Chadli
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports, 9
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports, 9
Systemic sclerosis (SSc or scleroderma) is an auto-immune disease characterized by skin fibrosis. While primary cells from patients are considered as a unique resource to better understand human disease biology, the effect of in vitro culture on thes