Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Isabelle Valnot"'
Autor:
Noman Kadhom, Jan-Willem Taanman, Pierre Rustin, Marina Gorbatyuk, Antoni Barrientos, Patrick Niaudet, Anne Lombès, Isabelle Valnot, Hélène Ogier de Baulny, Alexander Tzagoloff, Agnès Rötig, Pascale de Lonlay, Dominique Chretien, Arnold Munnich, Emmanuel Benayoun
Publikováno v:
Nature Genetics. 29:57-60
Complex III (CIII; ubiquinol cytochrome c reductase of the mitochondrial respiratory chain) catalyzes electron transfer from succinate and nicotinamide adenine dinucleotide-linked dehydrogenases to cytochrome c. CIII is made up of 11 subunits, of whi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bc1e36e5008c3294f1d1681b62afec7
https://doi.org/10.1038/ng706
https://doi.org/10.1038/ng706
Autor:
Isabelle Valnot, Sandrine Osmond, Nadine Gigarel, Blandine Mehaye, Jeanne Amiel, Valerie Cormier‐Daire, Arnold Munnich, Jean‐Paul Bonnefont, Pierre Rustin, Agnes Rotig
Publikováno v:
The American Journal of Human Genetics. 67:1104-1109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4791f9b732f626276fa6185e2629fd14
https://doi.org/10.1086/321202
https://doi.org/10.1086/321202
Autor:
Jean-Paul Bonnefont, Nadine Gigarel, Arnold Munnich, Jeanne Amiel, Agnès Rötig, Isabelle Valnot, Sandrine Osmond, Pierre Rustin, Blandine Mehaye, Valérie Cormier-Daire
Publikováno v:
The American Journal of Human Genetics. 67(5):1104-1109
Cytochrome c oxidase (COX) catalyzes both electron transfer from cytochrome c to molecular oxygen and the concomitant vectorial proton pumping across the inner mitochondrial membrane. Studying a large family with multiple cases of neonatal ketoacidot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee48a47d7dd1d2b7c69c530b55a06d6a
Autor:
Alexander Tzagoloff, Agnès Rötig, Antonio Barrientos, Jan-Willem Taanman, Blandine Mehaye, Jürgen Christoph Von Kleist-Retzow, Pierre Rustin, Marina Gorbatyuk, Isabelle Valnot, Arnold Munnich
Publikováno v:
Scopus-Elsevier
ResearcherID
ResearcherID
Cytochrome c oxidase (COX) defects are found in a clinically and genetically heterogeneous group of mitochondrial disorders. To date, mutations in only two nuclear genes causing COX deficiency have been described. We report here a genetic linkage stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f2bdf06252e82994a4b003d25c377e2
https://doi.org/10.1093/hmg/9.8.1245
https://doi.org/10.1093/hmg/9.8.1245
Autor:
Pierre Rustin, Jean Kachaner, Arnold Munnich, P de Lonlay, Isabelle Valnot, Agnès Rötig, J Kassis, Dominique Chretien, Béatrice Parfait
Publikováno v:
ResearcherID
Ubiquinol cytochrome c reductase (complex III) deficiency represents a clinically heterogeneous group of mitochondrial respiratory chain disorders that can theoretically be subject to either a nuclear or a mitochondrial mode of inheritance. In an att
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6c3a33bfec027f56c88d8893ded9c73
https://doi.org/10.1007/s004390050988
https://doi.org/10.1007/s004390050988
Autor:
Valérie Raclin, Pierre Rustin, Alexandra Benacki, Arnold Munnich, Béatrice Parfait, Paule Bénit, Smail Hadj-Rabia, Isabelle Valnot, Nadine Gigarel, Jean-Paul Bonnefont, Yves Dumez, Agnès Rötig, Jürgen-Christoph von Kleist-Retzow, Jeanne Amiel
Publikováno v:
Prenatal Diagnosis. 21:602-604
Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe50f64fcc3c4541ee0479a57480539d
https://doi.org/10.1002/pd.126
https://doi.org/10.1002/pd.126
Publikováno v:
The Journal of biological chemistry. 279(9)
Cytochrome c oxidase contains two redox-active copper centers (Cu(A) and Cu(B)) and two redox-active heme A moieties. Assembly of the enzyme relies on several assembly factors in addition to the constituent subunits and prosthetic groups. We studied
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e960e2a48e62f8cc9ace8f40f196dbc
https://pubmed.ncbi.nlm.nih.gov/14607829
https://pubmed.ncbi.nlm.nih.gov/14607829
Autor:
Isabelle Valnot, Alexander Tzagoloff, Mario H. Barros, Pierre Rustin, Antoni Barrientos, Agnès Rötig
Publikováno v:
ResearcherID
Yeast and bovine cytochrome c oxidases (COX) are composed of 12 and 13 different polypeptides, respectively. In both cases, the three subunits constituting the catalytic core are encoded by mitochondrial DNA. The other subunits are all products of nu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32cf242f099b116c33d7b0a4f5828bf0
https://pubmed.ncbi.nlm.nih.gov/11943460
https://pubmed.ncbi.nlm.nih.gov/11943460
Publikováno v:
Molecular genetics and metabolism. 69(3)
Disorders of mitochondrial oxidative phosphorylation (OXPHOS) are now recognized as major causes of human metabolic diseases and several mutations of mitochondrial and nuclear genes encoding respiratory chain components have been reported. Interestin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab5b45ede46679867bbc1693d58be805
https://pubmed.ncbi.nlm.nih.gov/10767177
https://pubmed.ncbi.nlm.nih.gov/10767177