Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Sally Pemble"'
Autor:
Suran Nethisinghe, Wei N. Lim, Heather Ging, Anna Zeitlberger, Rosella Abeti, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Charisse Cervera, Henry Houlden, Elisabeth Rosser, Patricia Limousin, Angus Kennedy, Michael P. Lunn, Kailash P. Bhatia, Nicholas W. Wood, John Hardy, James M. Polke, Liana Veneziano, Alfredo Brusco, Mary B. Davis, Paola Giunti
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation. It is distinct
Externí odkaz:
https://doaj.org/article/15eee59640234cc3a342ef919bb83ae9
Autor:
Suran Nethisinghe, Maria Lucia Pigazzini, Sally Pemble, Mary G. Sweeney, Robyn Labrum, Katarina Manso, David Moore, Jon Warner, Mary B. Davis, Paola Giunti
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 12 (2018)
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by an expansion of a polyglutamine tract within the ATXN1 gene. Normal alleles have been reported to range from 6 to 35 repeats, intermediate alleles from
Externí odkaz:
https://doaj.org/article/a75bd019892b41b583329a8dee9d1f85
Autor:
Rajesh P Menon, Suran Nethisinghe, Serena Faggiano, Tommaso Vannocci, Human Rezaei, Sally Pemble, Mary G Sweeney, Nicholas W Wood, Mary B Davis, Annalisa Pastore, Paola Giunti
Publikováno v:
PLoS Genetics, Vol 9, Iss 7, p e1003648 (2013)
At least nine dominant neurodegenerative diseases are caused by expansion of CAG repeats in coding regions of specific genes that result in abnormal elongation of polyglutamine (polyQ) tracts in the corresponding gene products. When above a threshold
Externí odkaz:
https://doaj.org/article/160e066247634585a377f084b98468ee
Publikováno v:
Antimutagenesis and Anticarcinogenesis Mechanisms ISBN: 9781468451849
Carcinogenesis has been regarded as being divisible into at least 3 major phases: (a) initiation, a largely irreversible process which has been compared to mutation; (b) promotion, a process during which cells undergo phenotypic changes, some of whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ca5f3e356a963975103998274f3271ae
https://doi.org/10.1007/978-1-4684-5182-5_9
https://doi.org/10.1007/978-1-4684-5182-5_9
Publikováno v:
Biochemical Society Transactions. 10:403-404
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6543b102fdf47795453e613cc2e223ed
https://doi.org/10.1042/bst0100403
https://doi.org/10.1042/bst0100403