19
results
for author:"Benit P."
in Literature Citations
| The variability of the harlequin mouse phenotype resembles that of human mitochondrial-complex I-deficiency syndromes. Benit P., Goncalves S., Dassa E.P., Briere J.J., Rustin P. PLoS ONE 3:e3208-e3208(2008) · Mapped (1) |
| The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes. Bonnet C., Augustin S., Ellouze S., Benit P., Bouaita A., Rustin P., Sahel J.A., Corral-Debrinski M. Biochim. Biophys. Acta 1783:1707-1717(2008) · Mapped (5) |
| The molecular archaeology of a mitochondrial death effector: AIF in Drosophila. Joza N., Galindo K., Pospisilik J.A., Benit P., Rangachari M., Kanitz E.E., Nakashima Y., Neely G.G., Rustin P., Abrams J.M. et al. Cell Death Differ. 15:1009-1018(2008) · UniProtKB (1) · Mapped (12) |
| Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes. Pospisilik J.A., Knauf C., Joza N., Benit P., Orthofer M., Cani P.D., Ebersberger I., Nakashima T., Sarao R., Neely G. et al. Cell 131:476-491(2007) · Mapped (1) |
| S6 kinase deletion suppresses muscle growth adaptations to nutrient availability by activating AMP kinase. Aguilar V., Alliouachene S., Sotiropoulos A., Sobering A., Athea Y., Djouadi F., Miraux S., Thiaudiere E., Foretz M., Viollet B. et al. Cell Metab. 5:476-487(2007) · Mapped (5) |
| Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normal. Brown D., Yu B.D., Joza N., Benit P., Meneses J., Firpo M., Rustin P., Penninger J.M., Martin G.R. Proc. Natl. Acad. Sci. U.S.A. 103:9918-9923(2006) · Mapped (9) |
| Muscle-specific loss of apoptosis-inducing factor leads to mitochondrial dysfunction, skeletal muscle atrophy, and dilated cardiomyopathy. Joza N., Oudit G.Y., Brown D., Benit P., Kassiri Z., Vahsen N., Benoit L., Patel M.M., Nowikovsky K., Vassault A. et al. Mol. Cell. Biol. 25:10261-10272(2005) · Mapped (1) |
| Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions. Briere J.J., Favier J., Benit P., El Ghouzzi V., Lorenzato A., Rabier D., Di Renzo M.F., Gimenez-Roqueplo A.P., Rustin P. Hum. Mol. Genet. 14:3263-3269(2005) · Mapped (8) |
| Succinate dehydrogenase deficiency in human. Briere J.J., Favier J., El Ghouzzi V., Djouadi F., Benit P., Gimenez A.P., Rustin P. Cell. Mol. Life Sci. 62:2317-2324(2005) · Mapped (4) |
| AIF deficiency compromises oxidative phosphorylation. Vahsen N., Cande C., Briere J.J., Benit P., Joza N., Larochette N., Mastroberardino P.G., Pequignot M.O., Casares N., Lazar V. et al. EMBO J. 23:4679-4689(2004) · Mapped (6) |
| Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations. Clermont O., Burlet P., Benit P., Chanterau D., Saugier-Veber P., Munnich A., Cusin V. Hum. Mutat. 24:417-427(2004) · Mapped (3) |
| Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Benit P., Beugnot R., Chretien D., Giurgea I., De Lonlay-Debeney P., Issartel J.P., Corral-Debrinski M., Kerscher S., Rustin P., Rotig A. et al. Hum. Mutat. 21:582-586(2003) · Mapped (6) |
| Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Benit P., Chretien D., Kadhom N., de Lonlay-Debeney P., Cormier-Daire V., Cabral A., Peudenier S., Rustin P., Munnich A., Roetig A. Am. J. Hum. Genet. 68:1344-1352(2001) · UniProtKB (2) · Mapped (1) |
| Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations. Benit P., Kara-Mostefa A., Hadj-Rabia S., Munnich A., Bonnefont J.-P. Hum. Mutat. 14:428-432(1999) · UniProtKB (1) |
| Mutations of the TWIST gene in the Saethre-Chotzen syndrome. el Ghouzzi V., le Merrer M., Perrin-Schmitt F., Lajeunie E., Benit P., Renier D., Bourgeois P., Bolcato-Bellemin A.-L., Munnich A., Bonaventure J. |
| Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria. Benit P., Rey F., Melle D., Munnich A., Rey J. Hum. Mutat. 4:229-231(1994) · UniProtKB (1) |
| Sequence of the PHO2-POL3 (CDC2) region of chromosome IV of Saccharomyces cerevisiae. Simon M., Benit P., Vassal A., Dubois C., Faye G. Yeast 10:1653-1656(1994) · UniProtKB (3) |
| The complete DNA sequence of yeast chromosome III. Oliver S.G., van der Aart Q.J.M., Agostoni-Carbone M.L., Aigle M., Alberghina L., Alexandraki D., Antoine G., Anwar R., Ballesta J.P.G., Benit P. et al. Nature 357:38-46(1992) · UniProtKB (1,006) |
| Sequence of the sup61-RAD18 region on chromosome III of Saccharomyces cerevisiae. Benit P., Chanet R., Fabre F., Faye G., Fukuhara H., Sor F. Yeast 8:147-153(1992) · UniProtKB (5) |
