Genomes and Genes
Affiliation: Centre Hospitalier Universitaire
- Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 functionArnaud Chevrollier
CNRS 6214, Angers F 49000, France
Int J Biochem Cell Biol 44:980-8. 2012....
- Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respirationClaire Angebault
INSERM U771, Angers 49000, France
BMC Res Notes 4:557. 2011..Leber's hereditary optic neuropathy (LHON) is caused by mutations in the complex I subunits of the respiratory chain. Although patients have been treated with idebenone since 1992, the efficacy of the drug is still a matter of debate...
- OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA backgroundDenis Pierron
Universite Bordeaux 1, Laboratoire d Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence, France
BMC Med Genet 10:70. 2009..In this study, we have tested the influence of mtDNA backgrounds on OPA1 mutations...
- Adenine nucleotide translocase 2 is a key mitochondrial protein in cancer metabolismArnaud Chevrollier
CNRS, UMR6214, F 49000 Angers, France
Biochim Biophys Acta 1807:562-7. 2011..Since the expression of ANT2 is closely linked to the mitochondrial bioenergetics of tumors, it should be taken into account for individualizing cancer treatments and for the development of anticancer strategies...
- Hereditary optic neuropathies share a common mitochondrial coupling defectArnaud Chevrollier
Institut National de la Sante et de la Recherche Medicale, U694, Départment de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France
Ann Neurol 63:794-8. 2008..Interestingly, the energetic defect was significantly more pronounced in Leber's hereditary optic neuropathy and autosomal dominant optic atrophy patients with a more complex phenotype, the so-called plus phenotype...
- Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A diseaseVirginie Guillet
INSERM, U694, Angers, 49000, France
Neurogenetics 11:127-33. 2010..Furthermore, a twofold increase in the expression of ANT led to the reduced efficiency of oxidative phosphorylation in CMT2A cells, suggesting that MFN2 plays a role in controlling ATP/ADP exchanges...
- OPA1-associated disorders: phenotypes and pathophysiologyPatrizia Amati-Bonneau
INSERM U694, Angers, France
Int J Biochem Cell Biol 41:1855-65. 2009..Finally, OPA1 represents an important new paradigm for emerging neurodegenerative diseases affecting mitochondrial structure, plasticity and functions...
- Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A diseaseDominique Loiseau
Institut National de la Santé et de la Recherche Médicale U694, Angers, France
Ann Neurol 61:315-23. 2007..Mutations of the mitofusin 2 gene (MFN2) may account for at least a third of the cases of Charcot-Marie-Tooth disease type 2 (CMT2). This study investigates mitochondrial cellular bioenergetics in MFN2-related CMT2A...
- Ethambutol-induced optic neuropathy linked to OPA1 mutation and mitochondrial toxicityVirginie Guillet
INSERM, U694, Angers, F 49000, France
Mitochondrion 10:115-24. 2010..Mitochondrial genetic variations may therefore be predisposing factors in EMB-induced ocular injury...
- Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutationsMarc Ferre
INSERM, U694, Angers, F 49000, France
Hum Mutat 30:E692-705. 2009..Our results highlight the importance of investigating LHON-causing mtDNA mutations as well as OPA1 and OPA3 mutations in cases of suspected hereditary optic neuropathy, even in absence of a family history of the disease...
- Mitochondrial bioenergetic background confers a survival advantage to HepG2 cells in response to chemotherapyDominique Loiseau
INSERM U694, University Hospital Center, Angers, France
Mol Carcinog 48:733-41. 2009..This suggests that the mitochondrial bioenergetic background of tumors should be considered for anticancer treatment personalization...
- Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)Julien Cassereau
INSERM, U694, 4 rue Larrey, Angers, 49933, France
Neurogenetics 10:145-50. 2009..Thus, besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume...
- Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutationChristophe Verny
Department of Neurology, Angers University Hospital, School of Medicine, Angers F 49000, France
Mitochondrion 11:70-5. 2011..This finding extends the genetic heterogeneity of the hereditary spastic paraplegia together with the clinical spectrum of mutations of the ATP6 gene...
- OPA1 R445H mutation in optic atrophy associated with sensorineural deafnessPatrizia Amati-Bonneau
INSERM U694, Laboratoire de Biochimie et Biologie Moleculaire, Centre Hospitalier Universitaire, F 49033 Angers, France
Ann Neurol 58:958-63. 2005..In addition, OPA1 was found to be widely expressed in the sensory and neural cochlear cells of the guinea pig. Thus, optic atrophy and deafness may be related to energy defects due to a fragmented mitochondrial network...
- Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutationVirginie Guillet
Unité Mixte de Recherche Centre National de Recherche Scientifique CNRS 6214, Institut National de Santé et de Recherche Me dicale INSERM U771, Angers, France
FASEB J 25:1618-27. 2011..Our results show that the R94Q MFN2 mutation induces a combined defect of complexes II and V linked to the opening of mK(ATP), which could participate in the pathophysiology of the disease...
- Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELASValérie Desquiret-Dumas
Department of Biochemistry and Genetics, Angers University Hospital, School of Medicine, Angers, F 49000, France
Biochim Biophys Acta 1822:1019-29. 2012..Thus, metabolically induced heteroplasmy shifting and l-arginine therapy may constitute promising therapeutic strategies against MELAS...
- A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2KJulien Cassereau
INSERM, U771, Angers, F 49000, France
Orphanet J Rare Dis 6:87. 2011..Locus-specific databases (LSDB) established in the framework of the Human Variome Project provide powerful tools for the investigation of such rare diseases...
- Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical dataMarc Ferre
CNRS 6214 INSERM 1083, Angers University, Angers, France Department of Biochemistry and Genetics, University Hospital, Angers, France
Hum Mutat 36:20-5. 2015..The updated OPA1 LSDB (http://opa1.mitodyn.org/) should prove useful for molecular diagnoses, large-scale variant statistics, and genotype-phenotype correlations in ADOA studies. ..
- OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiologyJuan Manuel Chao De La Barca
Centre Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France UMR CNRS 6214 Inserm 1083, Universite d Angers, Angers, France
Neurobiol Dis 90:20-6. 2016..Thus, OPA1-related disorders may serve as a paradigm in the wider context of neurodegenerative syndromes, particularly for the development of novel therapeutic strategies against these diseases. ..
- The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular modelSamuel Frey
UMR CNRS 6214 INSERM U1083, Mitovasc Institute, Angers University, Angers, France
Biochim Biophys Acta 1863:284-291. 2017..Therefore KB may constitute an alternative and promising therapy for MELAS syndrome, and could be beneficial for other mitochondrial diseases caused by complex I deficiency...
- ANT2 isoform required for cancer cell glycolysisArnaud Chevrollier
INSERM, U694, Angers, F 49033, France
J Bioenerg Biomembr 37:307-16. 2005....
- The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stressJuan Manuel Chao De La Barca
1 PREMMi Pôle de Recherche et d Enseignement en Médecine Mitochondriale, Institut MITOVASC, CNRS 6214, INSERM U1083, Universite d Angers, Angers, France 2 Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France
Brain . 2016....
- Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiencyGéraldine Leman
Angers University, Angers, France UMR CNRS 6214 INSERM U1083, Angers F 49000, France
Int J Biochem Cell Biol 65:91-103. 2015..Moreover, these data suggest that the use of antioxidants may be particularly relevant for patients displaying a CI assembly defect. ..
- Is ABCC6 a genuine mitochondrial protein?Marc Ferre
CNRS 6214 INSERM 1083, Angers University, Angers, France
BMC Res Notes 6:427. 2013..Circ Res 2012, 111:516-520. We present complementary information based on a bioinformatics analysis, which was not performed in the article cited, to examine the suggestion that ABCC6 is localized to mitochondria...
- Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutationsPhilippe Codron
PREMMi Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083, Universite d Angers, CHU d Angers, Angers, France
J Peripher Nerv Syst 21:365-369. 2016..Such alterations could be useful biomarkers helping to distinguish MFN2 mutations from variants, a growing challenge with the advent of next generation sequencing into routine clinical practice...
- Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cellsValérie Desquiret-Dumas
From Angers Université, Angers F 49000, France
J Biol Chem 288:36662-75. 2013..Our results open up new perspectives in the understanding of the RSV signaling pathway and highlight the critical importance of RSV doses used for future clinical trials...
- ANT2 expression under hypoxic conditions produces opposite cell-cycle behavior in 143B and HepG2 cancer cellsArnaud Chevrollier
INSERM E0018, Laboratoire de Biochimie et Biologie Moleculaire, CHU, Angers, France
Mol Carcinog 42:1-8. 2005..This loss of cell dependence on oxidative metabolism is an important factor in the development of tumors...
- mtDNA controls expression of the Death Associated Protein 3Caroline Jacques
From INSERM, U694, F 49033 Angers, France
Exp Cell Res 312:737-45. 2006..The absence of pro-apoptotic DAP3 in these mtDNA-less cells could explain their reduced apoptotic capacity. Our results suggest that the mtDNA content plays a role in cell apoptosis by mediating the expression of DAP3...