Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Missense-mutant mouse model"'
Autor:
Malcher, Jakub, Heidt, Leonie, Goyenvalle, Aurélie, Escobar, Helena, Marg, Andreas, Beley, Cyriaque, Benchaouir, Rachid, Bader, Michael, Spuler, Simone, García, Luis, Schöwel, Verena
Publikováno v:
In Molecular Therapy - Nucleic Acids 7 December 2018 13:198-207
Autor:
Jakub Malcher, Leonie Heidt, Aurélie Goyenvalle, Helena Escobar, Andreas Marg, Cyriaque Beley, Rachid Benchaouir, Michael Bader, Simone Spuler, Luis García, Verena Schöwel
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 13, Iss , Pp 198-207 (2018)
Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair
Externí odkaz:
https://doaj.org/article/5d1d3497ef3d4ad2a0b0bfd742e30f43
Autor:
Heidt, Leonie Victoria
Ziel der Arbeit war die Charakterisierung des neu generierten MMex38-Mausmodells. Dieses stellt das erste Tiermodell für die Gliedergürtelmuskeldystrophie Dysferlinopathie dar, bei der die Erkrankung durch eine Missense-Mutation und Proteinfehlfalt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da3cda7c66a02574513badbc02fba32e
Autor:
Shimo, Takenori1 (AUTHOR) shimo.takenori48@chugai-pharm.co.jp, Ueda, Otoya1 (AUTHOR), Yamamoto, Satoshi1 (AUTHOR)
Publikováno v:
PLoS ONE. 7/9/2024, Vol. 19 Issue 7, p1-15. 15p.
Autor:
Poudel, Bal Hari1,2,3 (AUTHOR) bal.poudel@murdoch.edu.au, Fletcher, Sue1 (AUTHOR) s.fletcher@murdoch.edu.au, Wilton, Steve D.1,2 (AUTHOR) s.wilton@murdoch.edu.au, Aung-Htut, May1,2 (AUTHOR) m.aung-htut@murdoch.edu.au
Publikováno v:
International Journal of Molecular Sciences. Jun2024, Vol. 25 Issue 11, p5572. 19p.
Autor:
Anwar, Saeed1 (AUTHOR) sanwar@ualberta.ca, Yokota, Toshifumi1 (AUTHOR) toshifum@ualberta.ca
Publikováno v:
Biomolecules (2218-273X). Mar2024, Vol. 14 Issue 3, p256. 33p.
Autor:
Bouchard, Camille1,2 (AUTHOR) camille.bouchard@crchudequebec.ulaval.ca, Tremblay, Jacques P.1,2 (AUTHOR) jacques-p.tremblay@crchudequebec.ulaval.ca
Publikováno v:
Journal of Clinical Medicine. Sep2023, Vol. 12 Issue 18, p6011. 12p.
Autor:
Ballouhey, Océane, Chapoton, Marie, Alary, Benedicte, Courrier, Sébastien, Da Silva, Nathalie, Krahn, Martin, Lévy, Nicolas, Weisleder, Noah, Bartoli, Marc
Publikováno v:
Biomedicines; May2023, Vol. 11 Issue 5, p1438, 13p
Autor:
Reash, Natalie F., James, Meredith K., Alfano, Lindsay N., Mayhew, Anna G., Jacobs, Marni, Iammarino, Megan A., Holsten, Scott, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Duong, Tina, de Wolf, Brittney, Gee, Richard, Bharucha‐Goebel, Diana X., Bravver, Elena, Mori‐Yoshimura, Madoka, Bushby, Kate, Rufibach, Laura E., Straub, Volker, Lowes, Linda P.
Publikováno v:
Muscle & Nerve; Aug2022, Vol. 66 Issue 2, p159-166, 8p
Publikováno v:
Human Gene Therapy; Nov2021, Vol. 32 Issue 21/22, p1317-1329, 13p