Zobrazeno 1 - 8 of 8 pro vyhledávání: '"Vanessa Zanette"'
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Akademický článek
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms
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
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4
NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms
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
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
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5
Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations
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
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
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6
Mutation in the MICOS subunit gene
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
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