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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-192
By:
- Soreze, Yohan;
- Boutron, Audrey;
- Habarou, Florence;
- Barnerias, Christine;
- Nonnenmacher, Luc;
- Delpech, Hélène;
- Mamoune, Asmaa;
- Chrétien, Dominique;
- Hubert, Laurence;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Correia, Isabelle;
- Sardet, Claude;
- Boddaert, Nathalie;
- Hamel, Yamina;
- Delahodde, Agnès;
- Ottolenghi, Chris;
- de Lonlay, Pascale
Publication type:
Article
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Published in:
2013
By:
- Soreze, Yohan;
- Boutron, Audrey;
- Habarou, Florence;
- Barnerias, Christine;
- Nonnenmacher, Luc;
- Delpech, Hélène;
- Mamoune, Asmaa;
- Chrétien, Dominique;
- Hubert, Laurence;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Correia, Isabelle;
- Sardet, Claude;
- Boddaert, Nathalie;
- Hamel, Yamina;
- Delahodde, Agnès;
- Ottolenghi, Chris;
- de Lonlay, Pascale
Publication type:
journal article
Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 6, p. 2028, doi. 10.3390/ijms21062028
By:
- Durrant, Christelle;
- Fuehring, Jana I.;
- Willemetz, Alexandra;
- Chrétien, Dominique;
- Sala, Giusy;
- Ghidoni, Riccardo;
- Katz, Abram;
- Rötig, Agnès;
- Thelestam, Monica;
- Ermonval, Myriam;
- Moore, Stuart E. H.
Publication type:
Article
An Effective, Versatile, and Inexpensive Device for Oxygen Uptake Measurement.
Published in:
Journal of Clinical Medicine, 2017, v. 6, n. 6, p. 58, doi. 10.3390/jcm6060058
By:
- Bénit, Paule;
- Chrétien, Dominique;
- Porceddu, Mathieu;
- Yanicostas, Constantin;
- Rak, Malgorzata;
- Rustin, Pierre
Publication type:
Article
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Published in:
eLife, 2016, p. 1, doi. 10.7554/eLife.17163
By:
- Guarani, Virginia;
- Jardel, Claude;
- Chrétien, Dominique;
- Lombès, Anne;
- Bénit, Paule;
- Labasse, Clémence;
- Lacène, Emmanuelle;
- Bourillon, Agnès;
- Imbard, Apolline;
- Benoist, Jean-François;
- Dorboz, Imen;
- Gilleron, Mylène;
- Goetzman, Eric S.;
- Gaignard, Pauline;
- Slama, Abdelhamid;
- Elmaleh-Bergès, Monique;
- Romero, Norma B.;
- Rustin, Pierre;
- de Baulny, Hélène Ogier;
- Paulo, Joao A.
Publication type:
Article
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion.
Published in:
Nature Genetics, 2007, v. 39, n. 6, p. 776, doi. 10.1038/ng2040
By:
- Bourdon, Alice;
- Minai, Limor;
- Serre, Valérie;
- Jais, Jean-Philippe;
- Sarzi, Emmanuelle;
- Aubert, Sophie;
- Chrétien, Dominique;
- de Lonlay, Pascale;
- Paquis-Flucklinger, Véronique;
- Arakawa, Hirofumi;
- Nakamura, Yusuke;
- Munnich, Arnold;
- Rötig, Agnès
Publication type:
Article
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
Published in:
Nature Genetics, 2001, v. 29, n. 1, p. 57, doi. 10.1038/ng706
By:
- de Lonlay, Pascale;
- Valnot, Isabelle;
- Barrientos, Antoni;
- Gorbatyuk, Marina;
- Tzagoloff, Alexander;
- Taanman, Jan-Willem;
- Benayoun, Emmanuel;
- Chrétien, Dominique;
- Kadhom, Noman;
- Lombès, Anne;
- de Baulny, Hélène Ogier;
- Niaudet, Patrick;
- Munnich, Arnold;
- Rustin, Pierre;
- Rötig, Agnès
Publication type:
Article
Mitochondria are physiologically maintained at close to 50 °C.
Published in:
PLoS Biology, 2018, v. 16, n. 1, p. 1, doi. 10.1371/journal.pbio.2003992
By:
- Chrétien, Dominique;
- Bénit, Paule;
- Ha, Hyung-Ho;
- Keipert, Susanne;
- El-Khoury, Riyad;
- Chang, Young-Tae;
- Jastroch, Martin;
- Jacobs, Howard T.;
- Rustin, Pierre;
- Rak, Malgorzata
Publication type:
Article
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
Published in:
2000
By:
- Faivre, Laurence;
- Cormier-Daire, Valérie;
- Chrétien, Dominique;
- Christoph von Kleist-Retzow, Jürgen;
- Amiel, Jeanne;
- Dommergues, Marc;
- Saudubray, Jean-Marie;
- Dumez, Yves;
- Rötig, Agnès;
- Rustin, Pierre;
- Munnich, Arnold;
- Faivre, L;
- Cormier-Daire, V;
- Chrétien, D;
- Christoph von Kleist-Retzow, J;
- Amiel, J;
- Dommergues, M;
- Saudubray, J M;
- Dumez, Y;
- Rötig, A
Publication type:
journal article
Prenatal diagnosis of cytochrome c oxidase deficiency in cultured amniocytes is hazardous.
Published in:
Prenatal Diagnosis, 1992, v. 12, n. 6, p. 548, doi. 10.1002/pd.1970120614
By:
- Bourgeron, Thomas;
- Chrétien, Dominique;
- Rötig, Agnès;
- Munnich, Arnold;
- Rustin, Pierre
Publication type:
Article
Nuclear Outsourcing of RNA Interference Components to Human Mitochondria.
Published in:
PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020746
By:
- Bandiera, Simonetta;
- Rüberg, Silvia;
- Girard, Muriel;
- Cagnard, Nicolas;
- Hanein, Sylvain;
- Chrétien, Dominique;
- Munnich, Arnold;
- Lyonnet, Stanislas;
- Henrion-Caude, Alexandra
Publication type:
Article
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.
Published in:
Annals of Neurology, 2007, v. 62, n. 6, p. 579, doi. 10.1002/ana.21207
By:
- Sarzi, Emmanuelle;
- Goffart, Steffi;
- Serre, Valérie;
- Chrétien, Dominique;
- Slama, Abdelhamid;
- Munnich, Arnold;
- Spelbrink, Johannes N.;
- Rötig, Agnès
Publication type:
Article
Multiple sources of metabolic disturbance in ETHE1‐related ethylmalonic encephalopathy.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 443, doi. 10.1007/s10545-010-9227-y
By:
- Barth, Magalie;
- Ottolenghi, Chris;
- Hubert, Laurence;
- Chrétien, Dominique;
- Serre, Valérie;
- Gobin, Stéphanie;
- Romano, Stéphane;
- Vassault, Anne;
- Sefiani, Aziz;
- Ricquier, Daniel;
- Boddaert, Nathalie;
- Brivet, Michèle;
- de Keyzer, Yves;
- Munnich, Arnold;
- Duran, Marinus;
- Rabier, Daniel;
- Valayannopoulos, Vassili;
- de Lonlay, Pascale
Publication type:
Article
Lipid and protein changes in jojoba callus under salt stress.
Published in:
Physiologia Plantarum, 1992, v. 86, n. 3, p. 372, doi. 10.1034/j.1399-3054.1992.860305.x
By:
- Chrétien, Dominique;
- Guillot-Salomon, Thérèse;
- Bahl, Jacqueline;
- Cantrel, Catherine;
- Dubacq, Jean-Paul
Publication type:
Article
Pitfalls in Monitoring Mitochondrial Temperature Using Charged Thermosensitive Fluorophores.
Published in:
Chemosensors, 2020, v. 8, n. 4, p. 124, doi. 10.3390/chemosensors8040124
By:
- Chrétien, Dominique;
- Bénit, Paule;
- Leroy, Christine;
- El-Khoury, Riyad;
- Park, Sunyou;
- Lee, Jung Yeol;
- Chang, Young-Tae;
- Lenaers, Guy;
- Rustin, Pierre;
- Rak, Malgorzata
Publication type:
Article
Mitochondrial cytochrome c oxidase deficiency.
Published in:
Clinical Science, 2016, v. 130, n. 6, p. 393, doi. 10.1042/CS20150707
By:
- Rak, Malgorzata;
- Bénit, Paule;
- Chrétien, Dominique;
- Bouchereau, Juliette;
- Schiff, Manuel;
- El-Khoury, Riyad;
- Tzagoloff, Alexander;
- Rustin, Pierre
Publication type:
Article
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Published in:
Human Mutation, 2011, v. 32, n. 9, p. 1046, doi. 10.1002/humu.21534
By:
- Ottolenghi, Chris;
- Hubert, Laurence;
- Allanore, Yannick;
- Brassier, Anais;
- Altuzarra, Cécilia;
- Mellot-Draznieks, Caroline;
- Bekri, Soumeya;
- Goldenberg, Alice;
- Veyrieres, Severine;
- Boddaert, Nathalie;
- Barbier, Valérie;
- Valayannopoulos, Vassili;
- Slama, Abdelhamid;
- Chrétien, Dominique;
- Ricquier, Daniel;
- Marret, Stéphane;
- Frebourg, Thierry;
- Rabier, Daniel;
- Munnich, Arnold;
- de Keyzer, Yves
Publication type:
Article
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
Published in:
Human Molecular Genetics, 2002, v. 11, n. 26, p. 3273, doi. 10.1093/hmg/11.26.3273
By:
- de Lonlay, Pascale;
- Mugnier, Claude;
- Sanlaville, Damien;
- Chantrel-Groussard, Karine;
- Bénit, Paule;
- Lebon, Sophie;
- Chrétien, Dominique;
- Kadhom, Noman;
- Saker, Safa;
- Gyapay, Gabor;
- Romana, Serge;
- Weissenbach, Jean;
- Munnich, Arnold;
- Rustin, Pierre;
- Rötig, Agnès
Publication type:
Article

Found: 18