Zobrazeno 1 - 2
of 2
pro vyhledávání: '"chemistry [Electron Transport Complex I]"'
Autor:
Yulya S. Itkis, Maja Hempel, Ben Pode-Shakked, Piero Barboni, N.L. Sheremet, Polina G. Tsygankova, Riccardo Berutti, Valerio Carelli, Chiara La Morgia, Daniele Ghezzi, Leonardo Caporali, Jean-Michel Rozet, Natalia A. Andreeva, Amelie T van der Ven, Peter Charbel Issa, Wolfram S. Kunz, Sarah L. Stenton, Claudia B. Catarino, Johannes A. Mayr, Matias Wagner, Maria Lucia Cascavilla, Flavia Palombo, Reka Kovacs-Nagy, Ilka Wittig, Alessandra Maresca, Pedro Felipe Malacarne, Thomas Klopstock, Costanza Lamperti, Sylvie Gerber, Cornelia Kornblum, Holger Prokisch, Nino V. Zhorzholadze, Jana Meisterknecht, Robert Kopajtich, Tatiana A. Nevinitsyna, Ekaterina Zakharova, Michele Carbonelli, Tatiana D. Krylova, Michal Tzadok, Elisabeth Graf, Zahra Assouline, Francesca Tagliavini, Josseline Kaplan, Maria S. Shmelkova, Mariantonietta Capristo, Elise Héon, Ortal Barel, Peter Freisinger, Elisheva Javasky, Igor Bychkov, Christina Ludwig, Tim M. Strom, Catherine Vignal-Clermont, Juliana Heidler
Publikováno v:
The journal of clinical investigation 131(6), e138267 (2021). doi:10.1172/JCI138267
J Clin Invest
J Clin Invest
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf545cda9fb173a8ffc9ec90e829e6
https://doi.org/10.1172/jci138267
https://doi.org/10.1172/jci138267
Autor:
Nazzareno Capitanio, Annamaria D'Aprile, Claudia Piccoli, Giovanni Quarato, Rosella Scrima, Anna Maria Sardanelli, Chiara Criscuolo, Maria Ripoli, G. De Michele, Maurizio Margaglione, Domenico Boffoli, S. Papa
Publikováno v:
45 (2008): 596–602.
info:cnr-pdr/source/autori:C Piccoli, M Ripoli, G Quarato, R Scrima, A DAprile, D Boffoli, M Margaglione, C Criscuolo, G De Michele, A Sardanelli, S Papa, N Capitanio/titolo:Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism/doi:/rivista:/anno:2008/pagina_da:596/pagina_a:602/intervallo_pagine:596–602/volume:45
info:cnr-pdr/source/autori:C Piccoli, M Ripoli, G Quarato, R Scrima, A DAprile, D Boffoli, M Margaglione, C Criscuolo, G De Michele, A Sardanelli, S Papa, N Capitanio/titolo:Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism/doi:/rivista:/anno:2008/pagina_da:596/pagina_a:602/intervallo_pagine:596–602/volume:45
Aims and background: Various genes have been identified for monogenic disorders resembling Parkinson’s disease. The products of some of these genes are associated with mitochondria and have been implicated in cellular protection against oxidative d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0935bfe7945466472f8774783c318d42
https://pubmed.ncbi.nlm.nih.gov/18524835
https://pubmed.ncbi.nlm.nih.gov/18524835