Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Vanessa Zanette"'
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
Inhibition of ATP synthase reverse activity restores energy homeostasis in mitochondrial pathologies
Autor:
Rebeca Acin‐Perez, Cristiane Benincá, Lucia Fernandez del Rio, Cynthia Shu, Siyouneh Baghdasarian, Vanessa Zanette, Christoph Gerle, Chimari Jiko, Ramzi Khairallah, Shaharyar Khan, David Rincon Fernandez Pacheco, Byourak Shabane, Karel Erion, Ruchi Masand, Sundeep Dugar, Cristina Ghenoiu, George Schreiner, Linsey Stiles, Marc Liesa, Orian S Shirihai
Publikováno v:
The EMBO Journal. 42
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::076498f3908fc05f2d74fa067b40fc68
https://doi.org/10.15252/embj.2022111699
https://doi.org/10.15252/embj.2022111699
Autor:
Alexander J. Whitworth, Julien Prudent, Enrico Baruffini, Anna Yeates, Daniel Almeida do Valle, Alan J. Robinson, Erika Fernandez-Vizarra, Michele Brischigliaro, Aurelio Reyes, Mara Lúcia Schmitz Ferreira Santos, Ricardo L.R. Souza, Mark H. Johnson, Massimo Zeviani, Bruno Augusto Telles, Andrea Degiorgi, Cristiane Benincá, Vanessa Zanette
Publikováno v:
Journal of Medical Genetics. 58:155-167
BackgroundMitochondria 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’
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c60acaae12cb91b2991686bf0920478a
https://doi.org/10.1136/jmedgenet-2020-106861
https://doi.org/10.1136/jmedgenet-2020-106861
Autor:
Bruno Augusto Telles, Mara Lúcia Schmitz Ferreira Santos, Cristiane Benincá, Vanessa Zanette, Daniel Almeida do Valle, Vaneisse Cristina Lima Monteiro, Alan J. Robinson, Ricardo L.R. Souza
Publikováno v:
Genetics and Molecular Biology, Volume: 44, Issue: 4, Article number: e20210149, Published: 19 NOV 2021
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
Genetics and Molecular Biology
Genetics and Molecular Biology, Vol 44, Iss 4 (2021)
Genetics and Molecular Biology
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 in the bra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e2bcd4bf9cf5813b265b3bda48cb7d6
https://doi.org/10.1590/1678-4685-gmb-2021-0149
https://doi.org/10.1590/1678-4685-gmb-2021-0149
Autor:
Ricardo L.R. Souza, Cristiane Benincá, Bruno Augusto Telles, Massimo Zeviani, Vanessa Zanette, Mara Lúcia Schmitz Ferreira Santos, Mark H. Johnson, Daniel Almeida do Valle, Alan J. Robinson, Vaneisse Monteiro, Aurelio Reyes
Publikováno v:
Neurology: Genetics
article-version (Version of Record) 3
article-version (Version of Record) 3
ObjectiveTo expand the clinical phenotype of POLR3A mutations by assessing the functional consequences of a missense and a splicing acceptor mutation.MethodsWe performed whole-exome sequencing for identification of likely pathogenic mutations in a 9-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3979e3dab15f364bdf241fc1e2f2c0a5
https://www.repository.cam.ac.uk/handle/1810/312664
https://www.repository.cam.ac.uk/handle/1810/312664
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a10c286ce4dd8c23033cdb1339b886c9
https://pubmed.ncbi.nlm.nih.gov/32439808
https://pubmed.ncbi.nlm.nih.gov/32439808