113 results on '"Benit, Paule"'
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2. Cyanide resistant respiration and the alternative oxidase pathway: A journey from plants to mammals
3. Cell Metabolic Alterations due to Mcph1 Mutation in Microcephaly
4. Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas
5. Pathologies liées aux déficits du cycle de Krebs
6. Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
7. Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency
8. From Nf1 to Sdhb knockout: Successes and failures in the quest for animal models of pheochromocytoma
9. Supplementary data from In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma
10. Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis
11. Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice
12. In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin
13. Unsuspected task for an old team: Succinate, fumarate and other Krebs cycle acids in metabolic remodeling
14. The Electron Transport Chain and Carcinogenesis
15. Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy
16. SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma
17. Cyanide resistant respiration and the alternative oxidase pathway : A from to mammals
18. Therapies in inborn errors of oxidative metabolism
19. Mitochondrial complex I deficiency of nuclear origin: I. Structural genes
20. Mitochondrial complex I deficiency of nuclear origin: II. Non-structural genes
21. Developmental aspects of respiratory chain from fetus to infancy
22. Loss of Aif Function Causes Cell Death in the Mouse Embryo, but the Temporal Progression of Patterning Is Normal
23. Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development
24. Life with or without AIF
25. HEART MITOCHONDRIA: Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in mice
26. Respiratory-chain diseases related to complex III deficiency
27. The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes
28. S6 Kinase Deletion Suppresses Muscle Growth Adaptations to Nutrient Availability by Activating AMP Kinase
29. Targeted Deletion of AIF Decreases Mitochondrial Oxidative Phosphorylation and Protects from Obesity and Diabetes
30. KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome
31. Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples
32. Distinctive Krebs cycle remodeling in iPSC-derived neural and mesenchymal stem cells
33. Respiratory chain defects: what do we know for sure about their consequences in vivo?
34. Assay of mitochondrial respiratory chain complex I in human lymphocytes and cultured skin fibroblasts
35. Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas
36. Coenzyme Q 10 and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits
37. Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency
38. Mitochondria are physiologically maintained at close to 50 degrees C
39. Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone‐responsive myopathy
40. The Mutant Genotype Is the Main Determinant of the Metabolic Phenotype in Phenylalanine Hydroxylase Deficiency
41. Heart failure caused by imbalanced OPA1 processing and mitochondrial fragmentation can be rescued by metabolic intervention
42. In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma
43. The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: A proof of principle study on stable and controlled RNA interference in human cell lines
44. Alternative Oxidase Expression in the Mouse Enables Bypassing Cytochrome c Oxidase Blockade and Limits Mitochondrial ROS Overproduction
45. Targeted deletion of AIF decreases mitochondrial oxidative phosphorylation and protects from obesity and diabetes
46. The Warburg Effect Is Genetically Determined in Inherited Pheochromocytomas
47. Mitochondrial Complex I Deficiency in Humans
48. Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations
49. Chronology of reported denaturing high performance liquid chromatography (DHPLC)-based prenatal diagnoses
50. Prenatal diagnosis of respiratory chain deficiency by direct mutation screening
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