Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Suran, Nethisinghe"'
Autor:
Daniela Scarabino, Liana Veneziano, Alessia Fiore, Suran Nethisinghe, Elide Mantuano, Hector Garcia-Moreno, Gianmarco Bellucci, Nita Solanky, Maria Morello, Ginevra Zanni, Rosa Maria Corbo, Paola Giunti
Publikováno v:
Antioxidants, Vol 11, Iss 8, p 1436 (2022)
SCA1, SCA2, and SCA3 are the most common forms of SCAs among the polyglutamine disorders, which include Huntington’s Disease (HD). We investigated the relationship between leukocyte telomere length (LTL) and the phenotype of SCA1, SCA2, and SCA3, c
Externí odkaz:
https://doaj.org/article/634eb281641e4a14b5d766d9359f650e
Autor:
Balasundaram Kadirvelu, Constantinos Gavriel, Sathiji Nageshwaran, Jackson Ping Kei Chan, Suran Nethisinghe, Stavros Athanasopoulos, Valeria Ricotti, Thomas Voit, Paola Giunti, Richard Festenstein, A. Aldo Faisal
Publikováno v:
Nature Medicine. 29:86-94
Friedreichʼs ataxia (FA) is caused by a variant of the Frataxin (FXN) gene, leading to its downregulation and progressively impaired cardiac and neurological function. Current gold-standard clinical scales use simplistic behavioral assessments, whic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e562ed2af7eb9419594fbc66bea01eda
https://doi.org/10.1038/s41591-022-02159-6
https://doi.org/10.1038/s41591-022-02159-6
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 21, p 11722 (2021)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease caused by mutations in the SACS gene, encoding the 520 kDa modular protein sacsin, which comprises multiple functional sequence domains that suggest a r
Externí odkaz:
https://doaj.org/article/06be726115614437a0d4ce65adfa79f7
Autor:
Suran Nethisinghe, Maheswaran Kesavan, Heather Ging, Robyn Labrum, James M. Polke, Saiful Islam, Hector Garcia-Moreno, Martina F. Callaghan, Francesca Cavalcanti, Mark A. Pook, Paola Giunti
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 14, p 7507 (2021)
Friedreich’s ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the FXN gene. The repeat expansion causes gene silencing that res
Externí odkaz:
https://doaj.org/article/19917918fd22477d8a31b6f07fe8f781
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
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11722, p 11722 (2021)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disease caused by mutations in the SACS gene, encoding the 520 kDa modular protein sacsin, which comprises multiple functional sequence domains that suggest a r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ed4a54132c9ba0343ef868c66e41a8
https://www.mdpi.com/1422-0067/22/21/11722
https://www.mdpi.com/1422-0067/22/21/11722
Autor:
Lisa E.L. Romano, Wen Yih Aw, Kathryn M. Hixson, Tatiana V. Novoselova, Tammy M. Havener, Stefanie Howell, Bonnie Taylor-Blake, Charlotte L. Hall, Lei Xing, Josh Beri, Suran Nethisinghe, Laura Perna, Abubakar Hatimy, Ginevra Chioccioli Altadonna, Lee M. Graves, Laura E. Herring, Anthony J. Hickey, Konstantinos Thalassinos, J. Paul Chapple, Justin M. Wolter
Publikováno v:
Cell Reports. 41:111580
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a childhood-onset cerebellar ataxia caused by mutations in SACS, which encodes the protein sacsin. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filame
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1efacf47940593ba8d8b563e29d0f497
https://doi.org/10.1016/j.celrep.2022.111580
https://doi.org/10.1016/j.celrep.2022.111580
Autor:
Anthony J. Hickey, Suran Nethisinghe, Abubakar Hatimy, Lei Xing, Charlotte L. Hall, Laura Perna, Wen Yih Aw, Stefanie D. Howell, Laura E. Herring, Tammy M. Havener, Josh Beri, Lee M. Graves, Ginevra Chioccioli Altadonna, Konstantinos Thalassinos, Justin M. Wolter, Kathryn M. Hixson, J. Paul Chapple, Lisa E.L. Romano, Tatiana V. Novoselova
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in SACS, which manifest as a childhood-onset cerebellar ataxia. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament (IF) disorga
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ddf55dbd3a1a1167cccb374e46fa9a4
https://doi.org/10.1101/2021.08.20.456807
https://doi.org/10.1101/2021.08.20.456807
Autor:
Suran, Nethisinghe, Maheswaran, Kesavan, Heather, Ging, Robyn, Labrum, James M, Polke, Saiful, Islam, Hector, Garcia-Moreno, Martina F, Callaghan, Francesca, Cavalcanti, Mark A, Pook, Paola, Giunti
Publikováno v:
International Journal of Molecular Sciences
Friedreich’s ataxia (FRDA) is a comparatively rare autosomal recessive neurological disorder primarily caused by the homozygous expansion of a GAA trinucleotide repeat in intron 1 of the FXN gene. The repeat expansion causes gene silencing that res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::12dfc9c409271eea969433f8e72a0bcc
https://pubmed.ncbi.nlm.nih.gov/34299126
https://pubmed.ncbi.nlm.nih.gov/34299126