Pierre Rustin

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award
• 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Best Publications

• Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice

  Nils-Göran Larsson;Jianming Wang;Hans Wilhelmsson;Anders Oldfors

  1781
  Citations

• Biochemical and molecular investigations in respiratory chain deficiencies

  P. Rustin;D. Chretien;T. Bourgeron;B. Gérard

  1448
  Citations

• Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia.

  Agnès Rötig;Pascale de Lonlay;Dominique Chretien;Françoise Foury

  1168
  Citations

• Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

  P. J. Pollard;J. J. Briere;N. A. Alam;J. Barwell

  997
  Citations

• Mitochondrial transcription factor A regulates mtDNA copy number in mammals

  Mats I. Ekstrand;Maria Falkenberg;Anja Rantanen;Chan Bae Park

  977
  Citations

• Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

  Thomas Bourgeron;Pierre Rustin;Dominique Chretien;Mark Birch-Machin

  883
  Citations

• Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.

  Hélène Puccio;Delphine Simon;Mireille Cossée;Paola Criqui-Filipe

  820
  Citations

• Persistent mitochondrial dysfunction and perinatal exposure to antiretroviral nucleoside analogues

  Stéphane Blanche;Marc Tardieu;Pierre Rustin;Abdelhamid Slama

  796
  Citations

• SDHA is a tumor suppressor gene causing paraganglioma

  Nelly Burnichon;Jean-Jacques Brière;Rossella Libé;Laure Vescovo

  780
  Citations

• SDH mutations establish a hypermethylator phenotype in paraganglioma.

  Eric Letouzé;Cosimo Martinelli;Cosimo Martinelli;Céline Loriot;Céline Loriot;Nelly Burnichon;Nelly Burnichon

  757
  Citations

• AIF deficiency compromises oxidative phosphorylation

  Nicola Vahsen;Céline Candé;Jean Jacques Brière;Paule Bénit

  738
  Citations

• Mutations in the SDHB Gene Are Associated with Extra-adrenal and/or Malignant Phaeochromocytomas

  Anne-Paule Gimenez-Roqueplo;Judith Favier;Pierre Rustin;Claudine Rieubland

  667
  Citations

• Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations

  Katherine A. Janeway;Su Young Kim;Maya Lodish;Vânia Nosé

  659
  Citations

• Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

  Barbara Pasini;Sarah R. McWhinney;Thalia Bei;Ludmila Matyakhina

  608
  Citations

• Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

  A Rötig;V Cormier;S Blanche;J P Bonnefont

  546
  Citations

• Spermidine and resveratrol induce autophagy by distinct pathways converging on the acetylproteome.

  Eugenia Morselli;Guillermo Mariño;Guillermo Mariño;Guillermo Mariño;Martin V. Bennetzen;Tobias Eisenberg

  529
  Citations

• The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

  Anne-Paule Gimenez-Roqueplo;Judith Favier;Pierre Rustin;Jean-Jacques Mourad

  507
  Citations

• Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice.

  Timothy Wai;Jaime García-Prieto;Michael J. Baker;Carsten Merkwirth

  501
  Citations

• Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression

  Jianming Wang;H. Wilhelmsson;C. Graff;Hong Li

  477
  Citations

• Targeted Deletion of AIF Decreases Mitochondrial Oxidative Phosphorylation and Protects from Obesity and Diabetes

  J. Andrew Pospisilik;Claude Knauf;Nicholas Joza;Paule Benit

  455
  Citations