Pierre Rustin
French Institute of Health and Medical Research
318Publications
79H-index
22.8kCitations
Publications 318
Newest
Published on Apr 1, 2019in Biochimica et Biophysica Acta 3.44
Sina Saari2
Estimated H-index: 2
(University of Tampere),
Geovana S. Garcia1
Estimated H-index: 1
(Sao Paulo State University)
+ 9 AuthorsPierre Rustin79
Estimated H-index: 79
(French Institute of Health and Medical Research)
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 dep...
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Published on Jan 3, 2019in The EMBO Journal 10.56
Talha Rashid1
Estimated H-index: 1
,
Ivan Nemazanyy13
Estimated H-index: 13
+ 16 AuthorsMartin A. Baraibar12
Estimated H-index: 12
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...
1 Citations Source Cite
Published on Apr 1, 2018in Neurology Genetics
Cecilia Marelli18
Estimated H-index: 18
,
Christian P. Hamel40
Estimated H-index: 40
+ 8 AuthorsMichel Koenig48
Estimated H-index: 48
Aconitase 2 ( ACO2 ) encodes the mitochondrial aconitase (ACO2), an enzyme catalyzing interconversion of citrate into isocitrate in the Krebs cycle. ACO2 mutations have been initially associated with infantile cerebellar-retinal degeneration combining optic atrophy, retinal degeneration, severe encephalopathy, epilepsy, and cerebellar ataxia1–3; subsequently, ACO2 mutations have also been associated with milder presentations including isolated optic atrophy2 or cerebellar ataxia without optic at...
3 Citations Source Cite
Published on Apr 1, 2018in Revue Francophone Des Laboratoires
Paule Bénit34
Estimated H-index: 34
(French Institute of Health and Medical Research),
Sylvie Bortoli6
Estimated H-index: 6
(Paris Descartes University)
+ 2 AuthorsPierre Rustin79
Estimated H-index: 79
(French Institute of Health and Medical Research)
Resume Chez l'homme, les dysfonctions des enzymes du cycle de Krebs liees a des mutations causent des encephalopathies severes du jeune enfant, ou differents types de tumeurs et de cancers touchant differents organes. Ainsi des mutations des genes de la succinate-deshydrogenase ont ete identifiees dans des formes familiales de pheochromocytomes et paragangliomes. Les mutations du gene de la fumarase s'observent dans des leiomyomes uterins en association avec des cancers renaux, mais des cas d'en...
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Published on Mar 27, 2018in bioRxiv
Paule Bénit34
Estimated H-index: 34
(French Institute of Health and Medical Research),
Sylvie Bortoli6
Estimated H-index: 6
(Paris Descartes University)
+ 6 AuthorsPierre Rustin79
Estimated H-index: 79
(French Institute of Health and Medical Research)
Succinate dehydrogenase inhibitors (SDHIs) are now widely used worldwide as fungicides to limit the proliferation of molds in cereal crops, or to better preserve fruits, vegetables, and seeds from these molds, as well as to facilitate the lawn care for public spaces and golf courses. According to the companies that produce them, the SDHIs quite specifically inhibit the activity of the succinate dehydrogenase in the molds. We here establish that these inhibitors readily inhibit the earthworm and ...
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Published on Jan 25, 2018in PLOS Biology 9.16
Dominique Chretien45
Estimated H-index: 45
(French Institute of Health and Medical Research),
Paule Bénit34
Estimated H-index: 34
(French Institute of Health and Medical Research)
+ 7 AuthorsMalgorzata Rak4
Estimated H-index: 4
(French Institute of Health and Medical Research)
In endothermic species, heat released as a product of metabolism ensures stable internal temperature throughout the organism, despite varying environmental conditions. Mitochondria are major actors in this thermogenic process. Part of the energy released by the oxidation of respiratory substrates drives ATP synthesis and metabolite transport, but a substantial proportion is released as heat. Using a temperature-sensitive fluorescent probe targeted to mitochondria, we measured mitochondrial tempe...
33 Citations Source Cite
Published on Aug 28, 2018in Human Molecular Genetics 4.90
Xiaoping Huang1
Estimated H-index: 1
(National Institutes of Health),
Beverly Wu2
Estimated H-index: 2
(National Institutes of Health)
+ 8 AuthorsStephan Frank28
Estimated H-index: 28
2 Citations Source Cite
Published on Feb 1, 2017in Disease Models & Mechanisms 4.40
Marten Szibor12
Estimated H-index: 12
(University of Helsinki),
Praveen K. Dhandapani2
Estimated H-index: 2
(University of Helsinki)
+ 17 AuthorsTimur Gainutdinov2
Estimated H-index: 2
(Leibniz Institute for Neurobiology)
Plants and many lower organisms, but not mammals, express alternative oxidases (AOXs) that branch the mitochondrial respiratory chain, transferring electrons directly from ubiquinol to oxygen without proton pumping. Thus, they maintain electron flow under conditions when the classical respiratory chain is impaired, limiting excess production of oxygen radicals and supporting redox and metabolic homeostasis. AOX from Ciona intestinalis has been used to study and mitigate mitochondrial impairments...
12 Citations Source Cite
Published on Mar 1, 2017in EBioMedicine
Paule Bénit34
Estimated H-index: 34
(Paris Diderot University),
Alice Pelhaître1
Estimated H-index: 1
(Paris Diderot University)
+ 7 AuthorsPierre Rustin79
Estimated H-index: 79
(Paris Diderot University)
Mice with the hypomorphic AIF-Harlequin mutation exhibit a highly heterogeneous mitochondriopathy that mostly affects respiratory chain complex I, causing a cerebral pathology that resembles that found in patients with AIF loss-of-function mutations. Here we describe that the antidiabetic drug pioglitazone (PIO) can improve the phenotype of a mouse Harlequin (Hq) subgroup, presumably due to an inhibition of glycolysis that causes an increase in blood glucose levels. This glycolysis-inhibitory PI...
3 Citations Source Cite
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