Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Anne, Lombes"'
Autor:
Laura S. Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B. Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, Christoph Leonhardt, Benoit Funalot, Alice Donati, Valeria Tiranti, Anne Lombes, Claude Jardel, Dieter Gläser, Robert W. Taylor, Daniele Ghezzi, Johannes A. Mayr, Agnes Rötig, Peter Freisinger, Felix Distelmaier, Tim M. Strom, Thomas Meitinger, Julien Gagneur, Holger Prokisch
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Genome sequencing alone fails to provide a genetic diagnosis for many Mendelian disorder patients. Here, the authors utilize RNA sequencing to complement genotyping of patients with a rare mitochondrial disease by detecting aberrant RNA expression, s
Externí odkaz:
https://doaj.org/article/97b8e0107e0d4933ba974f81bd5fa25a
Autor:
Luisa Iommarini, Anna Ghelli, Concetta Valentina Tropeano, Ivana Kurelac, Giulia Leone, Sara Vidoni, Anne Lombes, Massimo Zeviani, Giuseppe Gasparre, Anna Maria Porcelli
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 3, p 764 (2018)
Mammalian respiratory complex I (CI) biogenesis requires both nuclear and mitochondria-encoded proteins and is mostly organized in respiratory supercomplexes. Among the CI proteins encoded by the mitochondrial DNA, NADH-ubiquinone oxidoreductase chai
Externí odkaz:
https://doaj.org/article/2240518f5c134bf6adb2231fe642f14f
Autor:
Walter O. Arruda, Luiz F. B. Torres, Anne lombes, Salvatore Dimauro, Belkiss A. Cardoso, Hélio A. G. Teive, Duilton de Paola, Ricardo R. Seixas
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 48, Iss 1, Pp 32-43 (1990)
The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered
Externí odkaz:
https://doaj.org/article/1666225319584e7ba6893407c1c149f6
Autor:
Anne Lombes, Francis Haraux
F1F0 ATP synthase, complex V of the oxidative phosphorylation pathway, is the enzyme that phosphorylates ADP into ATP using the electrochemical energy of the proton gradient generated by the respiratory chain. It produces the vast majority of cellula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d31e0752668f8b1e29be7c888ccfd6d3
https://doi.org/10.17504/protocols.io.5gng3ve
https://doi.org/10.17504/protocols.io.5gng3ve
Autor:
Ségolène, Hescot, Larbi, Amazit, Marie, Lhomme, Simon, Travers, Anais, DuBow, Stephanie, Battini, Geoffrey, Boulate, Izzie Jacques, Namer, Anne, Lombes, Anatol, Kontush, Alessio, Imperiale, Eric, Baudin, Marc, Lombes
Publikováno v:
Oncotarget
Mitotane (o,p’DDD), the most effective drug in adrenocortical carcinoma, concentrates into the mitochondria and impacts mitochondrial functions. To address the molecular mechanisms of mitotane action and to identify its potential target, metabolomi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1efe2cfcf7e2356a809a8e2959c7bd4a
https://pubmed.ncbi.nlm.nih.gov/29299119
https://pubmed.ncbi.nlm.nih.gov/29299119
Autor:
Salvatore DiMauro, Eduardo Bonilla, Anne Lombes, Sara Shanske, Carlo Minetti, Carlos T. Moraes
Publikováno v:
Neurologic Clinics. 8:483-506
The mitochondrial diseases present with great heterogeneity. They are often multisystemic and vary considerably in age at onset, distribution of weakness, severity, and course. Only nonthyroidal hypermetabolism has a distinctive clinical presentation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8354700579ba2944b9928982a21dd18a
https://doi.org/10.1016/s0733-8619(18)30332-3
https://doi.org/10.1016/s0733-8619(18)30332-3
Autor:
Rudy Van Coster, T.Linda Chi, Stanley Rothman, Darryl C. De Vivo, Amid Habib, Anne Lombes, W. Edwin Dodson, Warren Grover, James F. Schwartz, Gerard T. Berry, Salvatore DiMauro, Edward J. Orrechio
Publikováno v:
Journal of the neurological sciences. 104(1)
Fourteen new cases of cytochrome oxidase (COX)-associated Leigh syndrome (LS) are combined with 20 reported cases to describe the clinical, laboratory, and radiological features of this devastating metabolic condition. Three clinical stages are ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aeebe9ed5595fa8ac7d7cd2f1811ae9c
https://pubmed.ncbi.nlm.nih.gov/1655984
https://pubmed.ncbi.nlm.nih.gov/1655984
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