Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mara Lucia S. F. Santos"'
Autor:
Vanessa Zanette, Daniel do Valle, Bruno Augusto Telles, Alan J. Robinson, Vaneisse Monteiro, Mara Lucia S. F. Santos, Ricardo Lehtonen R. Souza, Cristiane Benincá
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
Abstract Mitochondrial complex I (CI) deficiency is the most common oxidative phosphorylation disorder described. It shows a wide range of phenotypes with poor correlation within genotypes. Herein we expand the clinics and genetics of CI deficiency i
Externí odkaz:
https://doaj.org/article/e8799b279fc8482c9331a2c67730d109
Autor:
Cristiane, Benincá, Vanessa, Zanette, Michele, Brischigliaro, Mark, Johnson, Aurelio, Reyes, Daniel Almeida do, Valle, Alan, J Robinson, Andrea, Degiorgi, Anna, Yeates, Bruno Augusto, Telles, Julien, Prudent, Enrico, Baruffini, Mara Lucia, S F Santos, Ricardo Lehtonen, R de Souza, Erika, Fernandez-Vizarra, Alexander J, Whitworth, Massimo, Zeviani
Publikováno v:
Journal of medical genetics
Background Mitochondria provide ATP through the process of oxidative phosphorylation, physically located in the inner mitochondrial membrane (IMM). The mitochondrial contact site and organising system (MICOS) complex is known as the ’mitoskeleton
Autor:
Benincá, Cristiane, Zanette, Vanessa, Brischigliaro, Michele, Johnson, Mark, Reyes, Aurelio, do Valle, Daniel Almeida, Robinson, Alan J., Degiorgi, Andrea, Yeates, Anna, Telles, Bruno Augusto, Prudent, Julien, Baruffini, Enrico, Santos, Mara Lucia S. F., de Souza, Ricardo Lehtonen R., Fernandez-Vizarra, Erika, Whitworth, Alexander J., Zeviani, Massimo
Publikováno v:
Journal of Medical Genetics; Mar2021, Vol. 58 Issue 3, p155-167, 13p