Marc FERRE

34
Documents

Présentation

Domaines de recherche

Biologie moléculaire Bio-Informatique, Biologie Systémique [q-bio.QM]

Publications

Publications

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Genetic susceptibility to optic neuropathy in patients with alcohol use disorder

Camille Delibes , Marc Ferré , Marine Rozet , Valérie Desquiret-Dumas , Alexis Descatha et al.
Journal of Translational Medicine, 2024, 22 (1), pp.495. ⟨10.1186/s12967-024-05334-0⟩
Article dans une revue hal-04605126 v1

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

Aude Rocatcher , Valérie Desquiret-Dumas , Majida Charif , Marc Ferré , Philippe Gohier et al.
Brain - A Journal of Neurology , 2023, 146 (2), pp.455-460. ⟨10.1093/brain/awac395⟩
Article dans une revue hal-04959530 v1
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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands

Aude Rocatcher , Valérie Desquiret-Dumas , Majida Charif , Marc Ferré , Philippe Gohier et al.
Brain - A Journal of Neurology , 2023, 146 (2), pp.455-460. ⟨10.1093/brain/awac395⟩
Article dans une revue hal-04320695 v1

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Benjamin Billiet , Patrizia Amati-Bonneau , Valérie Desquiret-Dumas , Khadidja Guehlouz , Dan Milea et al.
Human Mutation, 2022, 43 (2), pp.128-142. ⟨10.1002/humu.24305⟩
Article dans une revue hal-03861098 v1

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

Khadidja Guehlouz , Thomas Foulonneau , Patrizia Amati-Bonneau , Majida Charif , Estelle Colin et al.
Scientific Data , 2021, 8 (1), pp.205. ⟨10.1038/s41597-021-00984-x⟩
Article dans une revue hal-03861114 v1
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A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies

Juan Manuel Chao de La Barca , Barnabé Rondet-Courbis , Marc Ferré , Jeanne Muller , Adrien Buisset et al.
Journal of Clinical Medicine, 2020, 9 (3), pp.631. ⟨10.3390/jcm9030631⟩
Article dans une revue hal-02543202 v1

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

Bastien Le Roux , Guy Lenaers , Xavier Zanlonghi , Patrizia Amati-Bonneau , Floris Chabrun et al.
Orphanet Journal of Rare Diseases, 2019, 14 (1), ⟨10.1186/s13023-019-1187-1⟩
Article dans une revue hal-02388214 v1

Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light

Bastien Le Roux , Guy Lenaers , Xavier Zanlonghi , Patrizia Amati-Bonneau , Floris Chabrun et al.
Human Mutation, 2019, 40 (12), pp.2430-2443. ⟨10.1002/humu.23885⟩
Article dans une revue hal-02975361 v1

A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders

Cinzia Bocca , Judith Nzoughet , Stéphanie Leruez , Patrizia Amati-Bonneau , Marc Ferré et al.
Investigative Ophthalmology & Visual Science, 2018, 59, pp.185-195. ⟨10.1167/iovs.17-23027⟩
Article dans une revue hal-01964499 v1

Subretinal fibrosis is associated with fundus pulverulentus in pseudoxanthoma elasticum.

J Ebran , Ludovic Martin , Nastassia Navasiolava , Marc Ferré , Dan Milea et al.
Graefe's Archive for Clinical and Experimental Ophthalmology, 2018, 256, pp.699-707
Article dans une revue hal-02104309 v1

Multiethnic involvement in autosomal-dominant optic atrophy in Singapore

J Loo , S Singhal , A Rukmini , S Tow , Patrizia Amati-Bonneau et al.
Eye, 2017, 31, pp.475-480. ⟨10.1038/eye.2016.255⟩
Article dans une revue hal-02104157 v1
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Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1 delTTAG/+ Mice

Juan Manuel Chao de la Barca , Gilles Simard , Emmanuelle Sarzi , Tanguy Chaumette , Guillaume Rousseau et al.
Investigative Ophthalmology & Visual Science, 2017, 58 (2), pp.812-820. ⟨10.1167/iovs.16-21116⟩
Article dans une revue hal-01784466 v1

The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress

Juan Manuel Chao de La Barca , Gilles Simard , Patrizia Amati-Bonneau , Zainab Safiedeen , Delphine Mirebeau-Prunier et al.
Brain - A Journal of Neurology , 2016, 139 (11), pp.2864-2876. ⟨10.1093/brain/aww222⟩
Article dans une revue hal-02103390 v1

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

Juan Manuel Chao de La Barca , Delphine Mirebeau-Prunier , Patrizia Amati-Bonneau , Marc Ferré , Emmanuelle Sarzi et al.
Neurobiology of Disease, 2015, pp.20-26. ⟨10.1016/j.nbd.2015.08.015⟩
Article dans une revue istex hal-01392230 v1

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Dominique Bonneau , Estelle Colin , Florine Oca , Marc Ferré , Arnaud Chevrollier et al.
Brain - A Journal of Neurology , 2014, Non spécifié. ⟨10.1093/brain/awu184⟩
Article dans une revue hal-03403967 v1

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Estelle Colin , Huynh Cong , G. Mollet , Agnés Guichet , O. Gribouval et al.
American Journal of Human Genetics, 2014, 95 (6), pp.637 - 48. ⟨10.1016/j.ajhg.2014.10.011⟩
Article dans une revue hal-03404021 v1

Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

Marc Ferré , Patrizia Amati-Bonneau , C. Moriniere , Véronique Ferré-L’hotellier , S. Lemerle et al.
Journal of Assisted Reproduction and Genetics, 2014, 31 (2), pp.221 - 7. ⟨10.1007/s10815-013-0141-8⟩
Article dans une revue hal-03403940 v1

Sensorineural hearing loss in OPA1-linked disorders

Stéphanie Leruez , Dan Milea , Sabine Defoort-Dhellemmes , Estelle Colin , M. Crochet et al.
Brain - A Journal of Neurology , 2013, 136 (Pt 7), Non spécifié. ⟨10.1093/brain/aws340⟩
Article dans une revue hal-03404095 v1
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Is ABCC6 a genuine mitochondrial protein?

Marc Ferré , Pascal Reynier , Arnaud Chevrollier , Delphine Prunier-Mirebeau , Georges Lefthériotis et al.
BMC Research Notes, 2013, 6 (1), pp.427. ⟨10.1186/1756-0500-6-427⟩
Article dans une revue inserm-00877607 v1

Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells

Valérie Desquiret-Dumas , Naïg Gueguen , Géraldine Leman , Stephanie Baron , Valerie Nivet-Antoine et al.
Journal of Biological Chemistry, 2013, 288 (51), pp.36662 - 75. ⟨10.1074/jbc.M113.466490⟩
Article dans une revue hal-03404098 v1
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Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth , Vincent Procaccio , Anne-Sophie Lebre , Claude Jardel , A. Chaussenot et al.
Journal of Medical Genetics, 2013, 50 (10), pp.704 - 14. ⟨10.1136/jmedgenet-2013-101604⟩
Article dans une revue hal-03404064 v1

Standardized mitochondrial analysis gives new insights into mitochondrial dynamics and OPA1 function

Arnaud Chevrollier , Julien Cassereau , Marc Ferré , Jennifer Alban , Valérie Desquiret-Dumas et al.
International journal of biochemistry & cell biology, 2012, 44 (6), pp.980 - 8. ⟨10.1016/j.biocel.2012.03.006⟩
Article dans une revue istex hal-03404105 v1
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Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

Claire Angebault , Naïg Gueguen , Valérie Desquiret-Dumas , Arnaud Chevrollier , Virginie Guillet et al.
BMC Research Notes, 2011, 4 (1), pp.557. ⟨10.1186/1756-0500-4-557⟩
Article dans une revue inserm-00673659 v1
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A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K.

Julien Cassereau , Arnaud Chevrollier , Dominique Bonneau , Christophe Verny , Vincent Procaccio et al.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.87. ⟨10.1186/1750-1172-6-87⟩
Article dans une revue inserm-00683147 v1

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

Christophe Verny , Naïg Gueguen , Valérie Desquiret-Dumas , Arnaud Chevrollier , Adriana Prundean et al.
Mitochondrion, 2010, 11 (1), pp.70 - 75. ⟨10.1016/j.mito.2010.07.006⟩
Article dans une revue istex hal-03408492 v1

Les atrophies optiques héréditaires

Clarisse Scherer , Vincent Procaccio , Marc Ferré , Virginie Guillet , Pascal Reynier et al.
Revue Neurologique, 2010, 166 (12), pp.959 - 65. ⟨10.1016/j.neurol.2010.07.033⟩
Article dans une revue hal-03408477 v1

Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot–Marie–Tooth type 2A disease

Virginie Guillet , Naïg Gueguen , Christophe Verny , Marc Ferré , Chadi Homedan et al.
neurogenetics, 2010, 11 (1), pp.127 - 133. ⟨10.1007/s10048-009-0207-z⟩
Article dans une revue istex hal-03406912 v1
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OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

Denis Pierron , Marc Ferré , Christophe Rocher , Arnaud Chevrollier , Pascal Murail et al.
BMC Medical Genetics, 2009, 10 (1), pp.70. ⟨10.1186/1471-2350-10-70⟩
Article dans une revue inserm-00663623 v1

Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K)

Julien Cassereau , Arnaud Chevrollier , Naïg Gueguen , Marie-Claire Malinge , Franck Letournel et al.
neurogenetics, 2009, 10 (2), pp.145 - 150. ⟨10.1007/s10048-008-0166-9⟩
Article dans une revue istex hal-03403277 v1

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

Yannick Nochez , Sophie Arsene , Naïg Gueguen , Arnaud Chevrollier , Marc Ferré et al.
Molecular Vision, 2009, 15, pp.598 - 608
Article dans une revue hal-03406919 v1

OPA1-associated disorders: Phenotypes and pathophysiology

Patrizia Amati-Bonneau , Dan Milea , Dominique Bonneau , Arnaud Chevrollier , Marc Ferré et al.
International Journal of Biochemistry and Cell Biology, 2009, 41 (10), pp.1855 - 1865. ⟨10.1016/j.biocel.2009.04.012⟩
Article dans une revue istex hal-03406909 v1

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Marc Ferré , Dominique Bonneau , Dan Milea , Arnaud Chevrollier , Christophe Verny et al.
Human Mutation, 2009, 30 (7), pp.E692-705. ⟨10.1002/humu.21025⟩
Article dans une revue inserm-00372261 v1
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Reversible optic neuropathy with OPA1 exon 5b mutation.

Karen Cornille , Dan Milea , Patrizia Amati-Bonneau , Vincent Procaccio , Lydie Zazoun et al.
Annals of Neurology, 2008, 63 (5), pp.667-71. ⟨10.1002/ana.21376⟩
Article dans une revue istex inserm-00287509 v1

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Arnaud Chevrollier , Virginie Guillet , Dominique Loiseau , Naïg Gueguen , Marie-Anne Pou de Crescenzo et al.
Annals of Neurology, 2008, 63 (6), pp.794-8. ⟨10.1002/ana.21385⟩
Article dans une revue istex hal-00282865 v1