Pierre Rustin
University of Paris
Molecular biologyMitochondrionGeneticsBiochemistryBiology
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Publications 336
#1Charlotte Lussey-Lepoutre (French Institute of Health and Medical Research)H-Index: 2
#2A BellucciH-Index: 2
Last. Judith Favier (University of Paris)H-Index: 1
view all 15 authors...
Purpose Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequent in patients with pheochromocytoma and paraganglioma (PPGL). They lead to SDH inactivation, mediating a massive accumulation of succinate, which constitutes a highly specific biomarker of SDHx-mutated tumors when measured in vitro. In a recent pilot study, we showed that magnetic resonance spectroscopy (1H-MRS) optimized for succinate detection (SUCCES) could detect succinate in vivo in both allografted mouse ...
#1Nathalie Journiac (University of Paris)H-Index: 2
#2Javier Gilabert-Juan (University of Paris)
Last. Tristan Hourcade (University of Paris)
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A distinctive feature of neocortical development is the highly coordinated production of different progenitor cell subtypes, which are critical for ensuring adequate neurogenic outcome and the development of normal neocortical size. To further understand the mechanisms that underlie neocortical growth, we focused our studies on the microcephaly gene Mcph1, and we report here that Mcph1 (1) exerts its functions in rapidly dividing apical radial glial cells (aRGCs) during mouse neocortical develop...
#1Paule Bénit (University of Paris)H-Index: 16
#2Agathe Kahn (University of Paris)H-Index: 1
Last. Pierre Rustin (University of Paris)H-Index: 80
view all 11 authors...
Succinate dehydrogenase (SDH) inhibitors (SDHIs) are used worldwide to limit the proliferation of molds on plants and plant products. However, as SDH, also known as respiratory chain (RC) complex II, is a universal component of mitochondria from living organisms, highly conserved through evolution, the specificity of these inhibitors toward fungi warrants investigation. We first establish that the human, honeybee, earthworm and fungal SDHs are all sensitive to the eight SDHIs tested, albeit with...
1 CitationsSource
#1Alessia Catania (University of Paris)H-Index: 1
#2Arcangela Iuso (TUM: Technische Universität München)H-Index: 17
Last. Manuel Schiff (University of Paris)H-Index: 21
view all 14 authors...
Background Complex I (CI or NADH:ubiquinone oxidoreductase) deficiency is the most frequent cause of mitochondrial respiratory chain defect. Successful attempts to rescue CI function by introducing an exogenous NADH dehydrogenase, such as the NDI1 from Saccharomyces cerevisiae (ScNDI1), have been reported although with drawbacks related to competition with CI. In contrast to ScNDI1, which is permanently active in yeast naturally devoid of CI, plant alternative NADH dehydrogenases (NDH-2) support...
1 CitationsSource
#1Pauline GeorgesH-Index: 2
#2Maria-Gabriela Boza-Moran (French Institute of Health and Medical Research)H-Index: 1
Last. Laetitia Aubry (French Institute of Health and Medical Research)H-Index: 8
view all 10 authors...
Translation of pharmacological results from in vitro cell testing to clinical trials is challenging. One of the causes that may underlie these discrepant results is the lack of the phenotypic or species-specific relevance of the tested cells; today, this lack of relevance may be reduced by relying on cells differentiated from human pluripotent stem cells. To analyse the benefits provided by this approach, we chose to focus on Friedreich ataxia, a neurodegenerative condition for which the recent ...
1 CitationsSource
#1Camille Lemattre (University of Montpellier)H-Index: 1
#2M Imbert-Bouteille (University of Montpellier)H-Index: 2
Last. David Geneviève (University of Montpellier)H-Index: 15
view all 23 authors...
Early infantile epileptic encephalopathy (EIEE) is a heterogeneous group of severe forms of age-related developmental and epileptic encephalopathies with onset during the first weeks or months of life. The interictal electroencephalogram (EEG) shows a “suppression burst” (SB) pattern. The prognosis is usually poor and most children die within the first two years or survive with very severe intellectual disabilities. EIEE type 3 is caused by variants affecting function, in SLC25A22, which is also...
1 CitationsSource
#1Sarah Benlamara (French Institute of Health and Medical Research)H-Index: 1
#2Laetitia Aubry (French Institute of Health and Medical Research)H-Index: 8
Last. Malgorzata Rak (French Institute of Health and Medical Research)H-Index: 7
view all 6 authors...
Abstract Mitochondria play a vital role in proliferation and differentiation and their remodeling in the course of differentiation is related to the variable energy and metabolic needs of the cell. In this work, we show a distinctive mitochondrial remodeling in human induced pluripotent stem cells differentiated into neural or mesenchymal progenitors. While leading to upregulation of the citrate synthase-α-ketoglutarate dehydrogenase segment of the Krebs cycle and increased respiratory chain act...
2 CitationsSource
#1Sina Saari (UTA: University of Tampere)H-Index: 3
#2Geovana S. Garcia (UNESP: Sao Paulo State University)H-Index: 2
Last. Howard T. Jacobs (UH: University of Helsinki)H-Index: 49
view all 12 authors...
Abstract The alternative respiratory chain (aRC), comprising the alternative NADH dehydrogenases (NDX) and quinone oxidases (AOX), is found in microbes, fungi and plants, where it buffers stresses arising from restrictions on electron flow in the oxidative phosphorylation system. The aRC enzymes are also found in species belonging to most metazoan phyla, including some chordates and arthropods species, although not in vertebrates or in Drosophila. We postulated that the aRC enzymes might be depl...
4 CitationsSource
#1Talha RashidH-Index: 1
#2Ivan NemazanyyH-Index: 13
Last. Mario Pende (Paris V: Paris Descartes University)H-Index: 35
view all 19 authors...
Abstract As a consequence of impaired glucose or fatty acid metabolism, bioenergetic stress in skeletal muscles may trigger myopathy and rhabdomyolysis. Genetic mutations causing loss of function of the LPIN1 gene frequently lead to severe rhabdomyolysis bouts in children, though the metabolic alterations and possible therapeutic interventions remain elusive. Here, we show that lipin1 deficiency in mouse skeletal muscles is sufficient to trigger myopathy. Strikingly, muscle fibers display strong...
4 CitationsSource
#1Xiaoping Huang (NIH: National Institutes of Health)H-Index: 1
#2Beverly P Wu (NIH: National Institutes of Health)H-Index: 2
Last. Derek P. Narendra (NIH: National Institutes of Health)H-Index: 15
view all 11 authors...
5 CitationsSource