Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Rachele A. Saccon"'
Autor:
Tim Meyer, Pietro Fratta, Macdonell J. Stanford, P. Hande Özdinler, Rachele A. Saccon, David L.H. Bennett, Patrick M. Nolan, Michelle Simon, Ines Heise, Peter I. Joyce, Sarah K. Carter, Linda Greensmith, Michelle Stewart, Silvia Corrochano, Steven J. West, Virginie Bros-Facer, Sebastian Brandner, William Weber, Elizabeth M. C. Fisher, Ning Zhu, Vinaya Phatak, James R. T. Dick, Philip McGoldrick, Saumya Kumar, Tu Vinh Luong, Abraham Acevedo-Arozena
Publikováno v:
Human Molecular Genetics
Transgenic mouse models expressing mutant superoxide dismutase 1 (SOD1) have been critical in furthering our understanding of amyotrophic lateral sclerosis (ALS). However, such models generally overexpress the mutant protein, which may give rise to p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab79f270aa4da333d4f728936be6a000
https://doi.org/10.1093/hmg/ddu605
https://doi.org/10.1093/hmg/ddu605
Publikováno v:
Brain
Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations were identified they were postulated to give rise to amyotrophic latera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b316feb70d2088ca93e687e60b0f202f
http://europepmc.org/articles/PMC3722346
http://europepmc.org/articles/PMC3722346
Autor:
Sheona Watson-Scales, Linda Greensmith, Eva Lana-Elola, Matthew Williamson, Federica La Russa, Victor L. J. Tybulewicz, Bernadett Kalmar, Sara Wells, Emma Nye, Elizabeth M. C. Fisher, Anna Olerinyova, David L.H. Bennett, Heather Cater, Rachele A. Saccon, Amy Slender, Y. Eugene Yu, Radma Mahmood, Dorota Gibbins, Frances K. Wiseman
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 14, Iss 5, p e1007383 (2018)
PLoS Genetics, Vol 14, Iss 5, p e1007383 (2018)
Down Syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and results in a spectrum of phenotypes including learning and memory deficits, and motor dysfunction. It has been hypothesized that an additional copy of a few Hsa21 dosage-sensitive g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5badb3a02b7401578ee5f708f7e43cd0
https://doi.org/10.1371/journal.pgen.1007383
https://doi.org/10.1371/journal.pgen.1007383
Publikováno v:
The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. 21(5)
The canonical role of superoxide dismutase 1 (SOD1) is as an antioxidant enzyme protecting the cell from reactive oxygen species toxicity. SOD1 was also the first gene in which mutations were found to be causative for the neurodegenerative disease am
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::096c842b3badf1fc0ee5ecae3a0cd709
https://pubmed.ncbi.nlm.nih.gov/25492944
https://pubmed.ncbi.nlm.nih.gov/25492944