Publications by authors named "Patrizia Amati-Bonneau"

79Publications

Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy.

Neurol Genet 2020 Jun 20;6(3):e428. Epub 2020 May 20.

MitoLab Team (M.C., A.C., C.B., D.G., V.D.-D., S.L., V.P., P.R., D.B., P.A.-B., G.L.), UMR CNRS 6015-INSERM U1083, Institut MitoVasc, Angers University and Hospital; Genetics and immuno-cell therapy Team (M.C.), Mohammed First University, Oujda, Morocco; Departments of Biochemistry and Genetics (C.B., D.G., V.D.-D., E.C., V.P., P.R., D.B., P.A.-B.), University Hospital Angers; Department of Ophthalmology (A.M.), Centre Hospitalier Universitaire Saint-Pierre, Brussels, Belgium; Neuroophthalmology Department (C.V.), Rothschild Ophthalmologic Foundation, Paris; Exploration of Visual Function and Neuro-Ophthalmology Department (V.S., S.D.-D., I.D.B.), Lille University Hospital, Rue Emilie Laine, Lille Cedex; CHU Bordeaux (C.G.), Service de Génétique Médicale, Centre de Référence « Neurogénétique » and Université de Bordeaux, INSERM U 1211, Laboratoire Maladies Rares, Génétique et Métabolisme (MRGM) Bordeaux; School of Optometry and Vision Sciences (M.V.), Cardiff University and Cardiff Eye Unit, University Hospital of Wales; NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology (N.J., P.Y.-W.-M.), London; Department of Clinical Neurosciences (P.Y.-W.-M.), Cambridge Centre for Brain Repair and MRC Mitochondrial Biology Unit, University of Cambridge; Cambridge Eye Unit (P.Y.-W.-M.), Addenbrooke's Hospital, Cambridge University Hospitals, UK; IRCCS Istituto Delle Scienze Neurologiche di Bologna (F.T., L.C., C.L.M., V.C.), Bellaria Hospital; Unit of Neurology (C.L.M., V.C.), Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Italy; Centre de Compétence Maladies Rares (X.Z.), Clinique Pluridisciplinaire Jules Verne, Nantes; and National Centre in Rare Diseases (I.M.), Genetics of Sensory Diseases, University Hospital, Montpellier, France.

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http://dx.doi.org/10.1212/NXG.0000000000000428DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7251510PMC
June 2020

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Horm Res Paediatr 2020 26;93(1):30-39. Epub 2020 May 26.

Hospices Civils de Lyon, Hôpital Femme Mère Enfant, Service d'Endocrinologie Pédiatrique, Bron, France.

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http://dx.doi.org/10.1159/000507249DOI Listing
May 2020

First characterization of LHON pedigrees in North Africa.

Eye (Lond) 2020 Nov 2;34(11):2138-2139. Epub 2020 Jan 2.

MitoLab team, Institut MitoVasc, UMR CNRS 6015, INSERM U1083, Université d'Angers, Angers, France.

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http://dx.doi.org/10.1038/s41433-019-0755-xDOI Listing
November 2020

Warburg-like effect is a hallmark of complex I assembly defects.

Biochim Biophys Acta Mol Basis Dis 2019 09 20;1865(9):2475-2489. Epub 2019 May 20.

UMR CNRS 6015-INSERM U1083, MitoVasc Institute, University of Angers, Angers, France; Department of Biochemistry and Genetics, University Hospital of Angers, F-49000, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09254439193017
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http://dx.doi.org/10.1016/j.bbadis.2019.05.011DOI Listing
September 2019

Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study.

J Proteome Res 2019 03 11;18(3):1307-1315. Epub 2019 Feb 11.

Unité Mixte de Recherche MITOVASC, équipe Mitolab, Centre National de la Recherche Scientifique 6015, Institut National de la Santé et de la Recherche Médicale U1083 , Université d'Angers , Angers 49035 , France.

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http://dx.doi.org/10.1021/acs.jproteome.8b00915DOI Listing
March 2019

A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency.

Invest Ophthalmol Vis Sci 2018 09;59(11):4355-4361

Equipe Mitolab, Institut Mitovasc, Centre National de la Recherche Scientifique 6015, Institut National de la Santé et de la Recherche Médicale (INSERM) U1083, Université d'Angers, Angers, France.

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http://dx.doi.org/10.1167/iovs.18-24938DOI Listing
September 2018

Retinal Neuronal Loss in Visually Asymptomatic Patients With Myoclonic Epilepsy With Ragged-Red Fibers.

J Neuroophthalmol 2019 Mar;39(1):18-22

Department of Visual Neurosciences (RPN, DM), Singapore Eye Research Institute, The Academia, Singapore; Ophthalmology and Visual Sciences Program (RPN, DM), Duke-NUS Medical School, Singapore; Departments of Ophthalmology, Biochemistry and Genetics (PR, AC, VP, PA-B and DM), Angers University Hospital, Angers, France; Department of Neuro-Ophthalmology (DM), Singapore National Eye Centre, Singapore; and Department of Surgery (Ophthalmology) (HM), Melbourne Medical School, University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1097/WNO.0000000000000690DOI Listing
March 2019

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

Invest Ophthalmol Vis Sci 2018 01;59(1):185-195

Equipe Mitolab, Institut MITOVASC, Centre National de la Recherche Scientifique 6015, Institut National de la Santé et de la Recherche Médicale U1083, Université d'Angers, Angers, France.

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http://dx.doi.org/10.1167/iovs.17-23027DOI Listing
January 2018

Novel gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia.

Neurol Genet 2017 Dec 11;3(6):e205. Epub 2017 Dec 11.

UMR CNRS 6015-INSERM U1083 (C.B., V.D.-D., N.G., D.G., M.B., D.B., P.A.-B., G.L., P.R., V.P.), Mitovasc Institute, Angers University, France; Department of Biochemistry and Genetics (C.B., V.D.-D., N.G., D.G., M.B., D.B., P.A.-B., G.L., P.R., V.P.), University Hospital of Angers, France; Department of Neurology (T.R.), University Hospital of Nantes, France; and CHU Reims (A.-S.L.), Hôpital Maison Blanche, Pole de biologie, Service de génétique, France.

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http://dx.doi.org/10.1212/NXG.0000000000000205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5733248PMC
December 2017

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy.

J Cell Mol Med 2017 10 4;21(10):2284-2297. Epub 2017 Apr 4.

PREMMi/Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France.

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http://dx.doi.org/10.1111/jcmm.13149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618673PMC
October 2017

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

Invest Ophthalmol Vis Sci 2017 02;58(2):812-820

Pôle de Recherche et d'Enseignement en Médecine Mitochondriale (PREMMi), Institut MITOVASC, Université d'Angers, Angers, France 2Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.

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http://dx.doi.org/10.1167/iovs.16-21116DOI Listing
February 2017

Compound heterozygosity for severe and hypomorphic mutations cause non-syndromic LHON-like optic neuropathy.

J Med Genet 2017 05 28;54(5):346-356. Epub 2016 Dec 28.

Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine, Paris Descartes University, Paris, France.

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http://dx.doi.org/10.1136/jmedgenet-2016-104212DOI Listing
May 2017

The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.

Biochim Biophys Acta Mol Basis Dis 2017 01 1;1863(1):284-291. Epub 2016 Nov 1.

UMR CNRS 6214-INSERM U1083, Mitovasc Institute, Angers University, Angers, France; Biochemistry and Genetics Department, Angers Hospital, F-49000, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.10.028DOI Listing
January 2017

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

Neurobiol Dis 2016 Jun 23;90:20-6. Epub 2015 Aug 23.

Centre Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2015.08.015DOI Listing
June 2016

Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.

Int J Biochem Cell Biol 2015 Aug 27;65:91-103. Epub 2015 May 27.

Angers University, Angers, France; Biochemistry and Genetics Laboratory, CHU Angers, F-49000, France; UMR CNRS 6214-INSERM U1083, Angers F-49000, France. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2015.05.017DOI Listing
August 2015

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

J Neurol Sci 2015 Feb 13;349(1-2):154-60. Epub 2015 Jan 13.

INSERM, U-1051, Institut des Neurosciences, Montpellier, France; CHU Montpellier, Centre of Reference for Genetic Sensory Diseases, Montpellier, France.

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http://dx.doi.org/10.1016/j.jns.2015.01.008DOI Listing
February 2015

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Brain 2015 Feb 19;138(Pt 2):284-92. Epub 2014 Dec 19.

1 Département de Neurologie, CHU de Montpellier, 34295 Montpellier, France

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http://brain.oxfordjournals.org/content/brain/138/2/284.full
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu353DOI Listing
February 2015

Improved locus-specific database for OPA1 mutations allows inclusion of advanced clinical data.

Hum Mutat 2015 Jan 1;36(1):20-5. Epub 2014 Dec 1.

CNRS 6214/INSERM 1083, Angers University, Angers, France; Department of Biochemistry and Genetics, University Hospital, Angers, France.

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http://doi.wiley.com/10.1002/humu.22703
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http://dx.doi.org/10.1002/humu.22703DOI Listing
January 2015

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

JAMA Neurol 2014 Aug;71(8):1036-42

Département de Génétique et de Cytogénétique, GH Pitié-Salpêtrière, AP-HP, Paris, France7Institut National de la Santé et de la Recherche Médicale U 1127, Institut du Cerveau et de la Moelle Epiniere, Hôpital Pitié-Salpêtrière, Paris, France8Université Pi.

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http://dx.doi.org/10.1001/jamaneurol.2014.629DOI Listing
August 2014

Dominant optic atrophy.

Orphanet J Rare Dis 2012 Jul 9;7:46. Epub 2012 Jul 9.

Institut des Neurosciences de Montpellier, U1051 de l'INSERM, Université de Montpellier I et II, BP 74103, F-34091 Montpellier cedex 05, France.

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http://dx.doi.org/10.1186/1750-1172-7-46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526509PMC
July 2012

Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.

FASEB J 2011 May 1;25(5):1618-27. Epub 2011 Feb 1.

Unité Mixte de Recherche Centre National de Recherche Scientifique (CNRS) 6214, Institut National de Santé et de Recherche Me´dicale (INSERM) U771, Angers, France.

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http://www.fasebj.org/content/25/5/1618.full.pdf
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http://www.fasebj.org/cgi/doi/10.1096/fj.10-173609
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http://dx.doi.org/10.1096/fj.10-173609DOI Listing
May 2011

Never too old to harbour a young man's disease?

Br J Ophthalmol 2011 Jun;95(6):887, 896-7

Ophthalmology Department, University Hospital, Angers, France.

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http://dx.doi.org/10.1136/bjo.2009.161539DOI Listing
June 2011

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

Mitochondrion 2011 Jan 22;11(1):70-5. Epub 2010 Jul 22.

Department of Neurology, Angers University Hospital, School of Medicine, Angers F-49000, France.

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http://dx.doi.org/10.1016/j.mito.2010.07.006DOI Listing
January 2011

Genetically determined optic neuropathies.

Curr Opin Neurol 2010 Feb;23(1):24-8

Department of Ophthalmology, Angers University Hospital, Angers, France.

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http://dx.doi.org/10.1097/WCO.0b013e3283347b27DOI Listing
February 2010

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background.

BMC Med Genet 2009 Jul 20;10:70. Epub 2009 Jul 20.

Université Bordeaux 1, Laboratoire d'Anthropologie des Populations du Passé, UMR 5199 PACEA, 33400 Talence, France.

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http://dx.doi.org/10.1186/1471-2350-10-70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2726129PMC
July 2009

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Ann Neurol 2008 Jun;63(6):794-8

Institut National de la Santé et de la Recherche Médicale, U694, Départment de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France.

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http://dx.doi.org/10.1002/ana.21385DOI Listing
June 2008

Reversible optic neuropathy with OPA1 exon 5b mutation.

Ann Neurol 2008 May;63(5):667-71

Institut National de la Santé et de la Recherche Médicale U583, Institut des Neurosciences de Montpellier, Université de Montpellier I et II, Montpellier, France.

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http://dx.doi.org/10.1002/ana.21376DOI Listing
May 2008

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.

J Cell Physiol 2007 May;211(2):423-30

Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération, Université Paul Sabatier, Toulouse, France.

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http://dx.doi.org/10.1002/jcp.20950DOI Listing
May 2007

Mitochondrial dynamics and disease, OPA1.

Biochim Biophys Acta 2006 May-Jun;1763(5-6):500-9. Epub 2006 Apr 20.

Laboratoire de Biologie Cellulaire et Moléculaire du Contrôle de la Prolifération, Université Paul Sabatier, 118 route de Narbonne, 31062 Toulouse, France.

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https://linkinghub.elsevier.com/retrieve/pii/S01674889060008
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http://dx.doi.org/10.1016/j.bbamcr.2006.04.003DOI Listing
September 2006

eOPA1: an online database for OPA1 mutations.

Hum Mutat 2005 May;25(5):423-8

INSERM-E0018, Laboratoire de Biochimie et Biologie Moléculaire, CHU Angers, France.

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http://dx.doi.org/10.1002/humu.20161DOI Listing
May 2005

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

Am J Ophthalmol 2003 Dec;136(6):1170-1

INSERM E0018 et Laboratoire de Biochimie et Biologie moléculaire, CHU Angers, Angers, France.

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http://dx.doi.org/10.1016/s0002-9394(03)00665-2DOI Listing
December 2003