Paule Bénit
French Institute of Health and Medical Research
GeneMolecular biologyMitochondrionGeneticsBiology
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Publications 62
#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
#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
#1Paule Bénit (French Institute of Health and Medical Research)H-Index: 29
#2Sylvie Bortoli (Paris V: Paris Descartes University)H-Index: 8
Last. Pierre Rustin (French Institute of Health and Medical Research)H-Index: 80
view all 5 authors...
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...
#1Paule Bénit (French Institute of Health and Medical Research)H-Index: 29
#2Sylvie Bortoli (Paris V: Paris Descartes University)H-Index: 8
Last. Pierre Rustin (French Institute of Health and Medical Research)H-Index: 80
view all 9 authors...
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 ...
3 CitationsSource
#1Paule BénitH-Index: 29
#2Dominique ChretienH-Index: 48
Last. Pierre RustinH-Index: 80
view all 6 authors...
In the last ten years, the use of fluorescent probes developed to measure oxygen has resulted in several marketed devices, some unreasonably expensive and with little flexibility. We have explored the use of the effective, versatile, and inexpensive Redflash technology to determine oxygen uptake by a number of different biological samples using various layouts. This technology relies on the use of an optic fiber equipped at its tip with a membrane coated with a fluorescent dye (www.pyro-science....
4 CitationsSource
#2Cátia V. DiogoH-Index: 13
Last. Nuno RaimundoH-Index: 13
view all 10 authors...
Acute and chronic mitochondrial respiratory chain deficiency differentially regulate lysosomal biogenesis
23 CitationsSource
#1Paule Bénit (Paris Diderot University)H-Index: 29
#2Alice Pelhaître (Paris Diderot University)H-Index: 1
Last. Pierre Rustin (Paris Diderot University)H-Index: 80
view all 10 authors...
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...
4 CitationsSource
#1Virginia Guarani (Harvard University)H-Index: 6
#2Claude Jardel (Paris V: Paris Descartes University)H-Index: 35
Last. Manuel Schiff (Paris Diderot University)H-Index: 21
view all 22 authors...
Previously, we identified QIL1 as a subunit of mitochondrial contact site (MICOS) complex and demonstrated a role for QIL1 in MICOS assembly, mitochondrial respiration, and cristae formation critical for mitochondrial architecture (Guarani et al., 2015). Here, we identify QIL1 null alleles in two siblings displaying multiple clinical symptoms of early-onset fatal mitochondrial encephalopathy with liver disease, including defects in respiratory chain function in patient muscle. QIL1 absence in pa...
16 CitationsSource