RÖTIG Agnès : UMR_S1163 : Genetics of Mitochondrial Disorders

Unit : INSERM UMR_S1163 - IHU Imagine - Institut des Maladies Génétiques - Université Paris Descartes

Université Paris Descartes
IHU Imagine - Institut des Maladies Génétiques
Bâtiment Imagine
Laboratoire de Génétique des maladies mitochondriales
24 boulevard du Montparnasse
75015 PARIS

Speciality : Department DGNRV

Director of the unit : Alain FISCHER

Principal investigator :

RÖTIG Agnès
Email : agnes.rotigSPAMFILTER@inserm.fr Phone number: +33 (0)1 42 75 43 22

Composition of research team :

  • RÖTIG Agnès (DR1-INSERM, HDR)  
  • BONNEFONT Jean-Paul (MCU-PH, HDR) 
  • METODIEV Metodi (CR1-INSERM, HDR)
  • RIO Marlène (PH)
  • STEFFANN Julie (PH)

5 Recent publications of the research team :

Serre V, Rozanska A, Beinat M, Chretien D, Boddaert N, Munnich A, Rötig A, Chrzanowska-Lightowlers ZM. Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency. Biochim Biophys Acta. 2013 1832:1304-1312

Vedrenne V, Gowher A, De Lonlay P, Nitschke P, Serre V, Boddaert N, Altuzarra C, Mager-Heckel AM, Chretien F, Entelis N, Munnich A, Tarassov I, Rötig A. Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency. Am J Hum Genet. 2012 91:912-8

Vedrenne V, Galmiche L, Chretien D, de Lonlay P, Munnich A, Rötig A. Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. J Hepatol. 2012 56:294-7

Galmiche L, Serre V, Beinat M, Assouline Z, Lebre AS, Chretien D, Nietschke P, Benes V, Boddaert N, Sidi D, Brunelle F, Rio M, Munnich A, Rötig A. Exome Sequencing Identifies MRPL3 Mutation in Mitochondrial Cardiomyopathy. Hum Mutat. 2011 32:1225-31

Gigarel N, Hesters L, Samuels DC, Monnot S, Burlet P, Kerbrat V, Lamazou F, Benachi A, Frydman R, Feingold J, Rotig A, Munnich A, Bonnefont JP, Frydman N, Steffann J.   Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans.   Am J Hum Genet. 2011 88:494-8