Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Paula Onofre-Oliveira"'
Autor:
Ege Sarikaya, Nesrin Sabha, Jonathan Volpatti, Emanuela Pannia, Nika Maani, Hernan D. Gonorazky, Alper Celik, Yijng Liang, Paula Onofre-Oliveira, James J. Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 7 (2022)
X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin (MTM1) gene. Much of what is known about the disease, as well as the treatment str
Externí odkaz:
https://doaj.org/article/00e21e3cffdc4d9fbf0a56fd56b7ca81
Autor:
Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof, Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 2 (2020)
X-linked myopathy with excessive autophagy (XMEA) is a genetic disease associated with weakness of the proximal muscles. It is caused by mutations in the VMA21 gene, coding for a chaperone that functions in the vacuolar ATPase (v-ATPase) assembly. Mu
Externí odkaz:
https://doaj.org/article/b0cb6d4e3d1a46c39a87d324c172427c
Autor:
Poliana C. M. Martins, Danielle Ayub-Guerrieri, Aurea B. Martins-Bach, Paula Onofre-Oliveira, Jackeline M. Malheiros, Alberto Tannus, Paulo L. de Sousa, Pierre G. Carlier, Mariz Vainzof
Publikováno v:
Disease Models & Mechanisms, Vol 6, Iss 5, Pp 1167-1174 (2013)
SUMMARY Although muscular dystrophies are among the most common human genetic disorders, there are few treatment options available. Animal models have become increasingly important for testing new therapies prior to entering human clinical trials. Th
Externí odkaz:
https://doaj.org/article/08992e272eb041d7bb1903970c516a7b
Autor:
Priscila Clara Calyjur, Camila de Freitas Almeida, Danielle Ayub-Guerrieri, Antonio Fernando Ribeiro, Stephanie de Alcântara Fernandes, Renata Ishiba, Andre Luis Fernandes Dos Santos, Paula Onofre-Oliveira, Mariz Vainzof
Publikováno v:
PLoS ONE, Vol 11, Iss 3, p e0150748 (2016)
The mdx mouse is a good genetic and molecular murine model for Duchenne Muscular Dystrophy (DMD), a progressive and devastating muscle disease. However, this model is inappropriate for testing new therapies due to its mild phenotype. Here, we transfe
Externí odkaz:
https://doaj.org/article/f023a65be0e541b8981778303abd58d7