Publications by authors named "Pascal Reynier"

100Publications

Mitochondrial DNA Parameters in Blood of Infants Receiving Lopinavir/Ritonavir or Lamivudine Prophylaxis to Prevent Breastfeeding Transmission of HIV-1.

J Clin Med 2020 Sep 14;9(9). Epub 2020 Sep 14.

Pathogenèse et Contrôle des Infections Chroniques, INSERM U1058, Université Montpellier, Etablissement Français du Sang, 34934 Montpellier, France.

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http://dx.doi.org/10.3390/jcm9092972DOI Listing
September 2020

Metabolomic signature of the seminal plasma in men with severe oligoasthenospermia.

Andrology 2020 Aug 8. Epub 2020 Aug 8.

Unité Mixte de Recherche MITOVASC, Centre National de la Recherche Scientifique (CNRS) 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/10.1111/andr.12882DOI Listing
August 2020

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

Elevated Levels of Monocyte Chemotactic Protein-1 in the Follicular Fluid Reveals Different Populations among Women with Severe Endometriosis.

J Clin Med 2020 May 1;9(5). Epub 2020 May 1.

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, 49000 Angers, France.

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http://dx.doi.org/10.3390/jcm9051306DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291127PMC
May 2020

The cytokine profile of follicular fluid changes during ovarian ageing.

J Gynecol Obstet Hum Reprod 2020 Apr 3;49(4):101704. Epub 2020 Feb 3.

Reproductive Biology Unit, Angers University Hospital, 49000, Angers, France; MITOVASC Institute, CNRS 6015, INSERM U1083, Angers University, 49000, Angers, France.

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http://dx.doi.org/10.1016/j.jogoh.2020.101704DOI Listing
April 2020

Data-Mining Approach on Transcriptomics and Methylomics Placental Analysis Highlights Genes in Fetal Growth Restriction.

Front Genet 2019 9;10:1292. Epub 2020 Jan 9.

Unité Mixte de Recherche (UMR) MITOVASC, Équipe Mitolab, Centre National de la Recherche Scientifique (CNRS) 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/10.3389/fgene.2019.01292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6962302PMC
January 2020

Tryptophane-kynurenine pathway in the remote ischemic conditioning mechanism.

Basic Res Cardiol 2020 01 10;115(2):13. Epub 2020 Jan 10.

Institut Mitovasc, UMR CNRS 6015, INSERM U1083, CHU d'Angers, Université d'Angers, Angers, France.

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http://dx.doi.org/10.1007/s00395-019-0770-xDOI Listing
January 2020

Oxidative stress contributes differentially to the pathophysiology of Charcot-Marie-Tooth disease type 2K.

Exp Neurol 2020 01 23;323:113069. Epub 2019 Oct 23.

MitoLab, UMR CNRS 6015-INSERM 1083, MitoVasc Institute, University of Angers, Angers, France; University Hospital of Angers, Department of Biochemistry and Genetics, F-49100 Angers, France.

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http://dx.doi.org/10.1016/j.expneurol.2019.113069DOI Listing
January 2020

Thanatobiochemistry: its contribution to the diagnosis of hypothermia fatalities.

Ann Biol Clin (Paris) 2019 Dec;77(6):651-659

Service de médecine légale, Centre hospitalier régional universitaire de Tours, Hôpital Trousseau, Chambray-lès-Tours, France.

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http://dx.doi.org/10.1684/abc.2019.1496DOI Listing
December 2019

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.

J Hum Genet 2020 Jan 23;65(2):91-98. Epub 2019 Oct 23.

INSERM UMR_S 1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre for Inherited Metabolic Diseases (ORPHA67872), University Hospital of Nancy and Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.

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http://dx.doi.org/10.1038/s10038-019-0689-yDOI Listing
January 2020

Metabolomics shows no impairment of the microenvironment of the cumulus-oocyte complex in women with isolated endometriosis.

Reprod Biomed Online 2019 Dec 12;39(6):885-892. Epub 2019 Aug 12.

Department of Reproductive Medicine, Angers University Hospital, Angers 49000, France; MITOVASC Institute, CNRS 6015, INSERM U1083, Angers University, Angers 49000, France; Reproductive Biology Unit, Angers University Hospital, Angers 49000, France.

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http://dx.doi.org/10.1016/j.rbmo.2019.08.001DOI Listing
December 2019

Apparent resistance to thyroid hormones: From biological interference to genetics.

Ann Endocrinol (Paris) 2019 Nov 26;80(5-6):280-285. Epub 2019 Jul 26.

Laboratoire de biochimie et biologie moléculaire, CHU Angers, 49933 Angers cedex 9, France; Unité mixte de recherche MITOVASC, CNRS 6015-Inserm U1083, université d'Angers, 49100 Angers, France; Centre de référence des maladies rares de la thyroïde et des récepteurs hormonaux, CHU Angers, 49933 Angers, France.

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http://dx.doi.org/10.1016/j.ando.2019.06.005DOI Listing
November 2019

Metabolomics reveals highly regional specificity of cerebral sexual dimorphism in mice.

Prog Neurobiol 2020 01 23;184:101698. Epub 2019 Sep 23.

Département de Biochimie et Génétique, Centre Hospitalier Universitaire d'Angers, France; Equipe Mitolab, Unité Mixte de Recherche MITOVASC, CNRS 6015, INSERM U1083, Université d'Angers, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.pneurobio.2019.101698DOI Listing
January 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

Metabolomic Approach in STEMI-Patients Undergoing Left Ventricular Remodeling.

Int J Mol Sci 2019 01 12;20(2). Epub 2019 Jan 12.

Institut Mitovasc, University of Angers, University Hospital of Angers, 49000 Angers, France.

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http://www.mdpi.com/1422-0067/20/2/289
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http://dx.doi.org/10.3390/ijms20020289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358808PMC
January 2019

Alagille syndrome: a case report.

Ann Biol Clin (Paris) 2018 Dec;76(6):675-680

Département de biochimie et génétique, CHU Angers, France.

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http://dx.doi.org/10.1684/abc.2018.1399DOI Listing
December 2018

A serum metabolomics signature of hypothermia fatalities involving arginase activity, tryptophan content, and phosphatidylcholine saturation.

Int J Legal Med 2019 May 18;133(3):889-898. Epub 2018 Sep 18.

Centre Universitaire Romand de Médecine Légale, Hôpital Universitaire de Lausanne, Chemin de la Vuliette 4, 1000, Lausanne 25, Switzerland.

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http://dx.doi.org/10.1007/s00414-018-1937-yDOI Listing
May 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

Study of mitochondrial function in placental insufficiency.

Placenta 2018 07 17;67:1-7. Epub 2018 May 17.

MitoVasc Institute, UMR CNRS 6015, INSERM U1083, Angers, France; Department of Neonatal Medicine, CHU Angers, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.placenta.2018.05.007DOI Listing
July 2018

Thanatobiochemistry: post mortem study of the vitreous humor for the diagnosis of diabetic ketoacidosis death.

Ann Biol Clin (Paris) 2018 Jun;76(3):245-250

Service de médecine légale et pénitentiaire, CHU d'Angers, France.

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http://dx.doi.org/10.1684/abc.2018.1348DOI Listing
June 2018

Updated review of postmortem biochemical exploration of hypothermia with a presentation of standard strategy of sampling and analyses.

Clin Chem Lab Med 2018 10;56(11):1819-1827

CURML, Centre Universitaire Romand de Médecine Légale, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1515/cclm-2018-0153DOI Listing
October 2018

The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome.

Biochim Biophys Acta Mol Basis Dis 2018 May 14;1864(5 Pt A):1596-1608. Epub 2018 Feb 14.

UMR CNRS 6015-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.2018.02.005DOI Listing
May 2018

How Can a Ketogenic Diet Improve Motor Function?

Front Mol Neurosci 2018 26;11:15. Epub 2018 Jan 26.

INSERM 1083, CNRS, Equipe Mitolab, Institut MITOVASC, UMR 6015, Université d'Angers, Angers, France.

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http://dx.doi.org/10.3389/fnmol.2018.00015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790787PMC
January 2018

Primary fibroblasts derived from sporadic amyotrophic lateral sclerosis patients do not show ALS cytological lesions.

Amyotroph Lateral Scler Frontotemporal Degener 2018 08 31;19(5-6):446-456. Epub 2018 Jan 31.

b MitoLab Unit , MITOVASC Institute, CNRS 6015, INSERM U1083, University of Angers , Angers Cedex 9 , France.

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http://dx.doi.org/10.1080/21678421.2018.1431787DOI Listing
August 2018

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

Current mechanistic insights into the CCCP-induced cell survival response.

Biochem Pharmacol 2018 02 22;148:100-110. Epub 2017 Dec 22.

MitoLab, Mitochondrial Medicine Research Centre, UMR CNRS 6015-INSERM 1083, Institut MitoVasc, University of Angers, 49933 Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.bcp.2017.12.018DOI Listing
February 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

Metabolomics and Lipidomics Profiling of a Combined Mitochondrial Plus Endoplasmic Reticulum Fraction of Human Fibroblasts: A Robust Tool for Clinical Studies.

J Proteome Res 2018 01 14;17(1):745-750. Epub 2017 Nov 14.

Equipe Mitolab, Institut MITOVASC, UMR CNRS 6015, INSERM 1083, Université d'Angers , 49933 Angers, France.

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http://dx.doi.org/10.1021/acs.jproteome.7b00637DOI Listing
January 2018

5-Oxoprolinuria in hyperammonemic encephalopathy: Coincidence or worsening factor?

Clin Biochem 2017 Dec 30;50(18):1115-1117. Epub 2017 Sep 30.

Department of Biochemistry and Genetics, University Hospital, Angers, France. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2017.09.025DOI Listing
December 2017

Retinal metabolic events in preconditioning light stress as revealed by wide-spectrum targeted metabolomics.

Metabolomics 2017 20;13(3):22. Epub 2017 Jan 20.

Eccles Institute of Neuroscience, John Curtin School of Medical research, Australian National University, Canberra, ACT 2601 Australia.

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http://dx.doi.org/10.1007/s11306-016-1156-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486622PMC
January 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Authors:
Tin Aung Mineo Ozaki Mei Chin Lee Ursula Schlötzer-Schrehardt Gudmar Thorleifsson Takanori Mizoguchi Robert P Igo Aravind Haripriya Susan E Williams Yury S Astakhov Andrew C Orr Kathryn P Burdon Satoko Nakano Kazuhiko Mori Khaled Abu-Amero Michael Hauser Zheng Li Gopalakrishnan Prakadeeswari Jessica N Cooke Bailey Alina Popa Cherecheanu Jae H Kang Sarah Nelson Ken Hayashi Shin-Ichi Manabe Shigeyasu Kazama Tomasz Zarnowski Kenji Inoue Murat Irkec Miguel Coca-Prados Kazuhisa Sugiyama Irma Järvelä Patricio Schlottmann S Fabian Lerner Hasnaa Lamari Yildirim Nilgün Mukharram Bikbov Ki Ho Park Soon Cheol Cha Kenji Yamashiro Juan C Zenteno Jost B Jonas Rajesh S Kumar Shamira A Perera Anita S Y Chan Nino Kobakhidze Ronnie George Lingam Vijaya Tan Do Deepak P Edward Lourdes de Juan Marcos Mohammad Pakravan Sasan Moghimi Ryuichi Ideta Daniella Bach-Holm Per Kappelgaard Barbara Wirostko Samuel Thomas Daniel Gaston Karen Bedard Wenda L Greer Zhenglin Yang Xueyi Chen Lulin Huang Jinghong Sang Hongyan Jia Liyun Jia Chunyan Qiao Hui Zhang Xuyang Liu Bowen Zhao Ya-Xing Wang Liang Xu Stéphanie Leruez Pascal Reynier George Chichua Sergo Tabagari Steffen Uebe Matthias Zenkel Daniel Berner Georg Mossböck Nicole Weisschuh Ursula Hoja Ulrich-Christoph Welge-Luessen Christian Mardin Panayiota Founti Anthi Chatzikyriakidou Theofanis Pappas Eleftherios Anastasopoulos Alexandros Lambropoulos Arkasubhra Ghosh Rohit Shetty Natalia Porporato Vijayan Saravanan Rengaraj Venkatesh Chandrashekaran Shivkumar Narendran Kalpana Sripriya Sarangapani Mozhgan R Kanavi Afsaneh Naderi Beni Shahin Yazdani Alireza Lashay Homa Naderifar Nassim Khatibi Antonio Fea Carlo Lavia Laura Dallorto Teresa Rolle Paolo Frezzotti Daniela Paoli Erika Salvi Paolo Manunta Yosai Mori Kazunori Miyata Tomomi Higashide Etsuo Chihara Satoshi Ishiko Akitoshi Yoshida Masahide Yanagi Yoshiaki Kiuchi Tsutomu Ohashi Toshiya Sakurai Takako Sugimoto Hideki Chuman Makoto Aihara Masaru Inatani Masahiro Miyake Norimoto Gotoh Fumihiko Matsuda Nagahisa Yoshimura Yoko Ikeda Morio Ueno Chie Sotozono Jin Wook Jeoung Min Sagong Kyu Hyung Park Jeeyun Ahn Marisa Cruz-Aguilar Sidi M Ezzouhairi Abderrahman Rafei Yaan Fun Chong Xiao Yu Ng Shuang Ru Goh Yueming Chen Victor H K Yong Muhammad Imran Khan Olusola O Olawoye Adeyinka O Ashaye Idakwo Ugbede Adeola Onakoya Nkiru Kizor-Akaraiwe Chaiwat Teekhasaenee Yanin Suwan Wasu Supakontanasan Suhanya Okeke Nkechi J Uche Ifeoma Asimadu Humaira Ayub Farah Akhtar Ewa Kosior-Jarecka Urszula Lukasik Ignacio Lischinsky Vania Castro Rodolfo Perez Grossmann Gordana Sunaric Megevand Sylvain Roy Edward Dervan Eoin Silke Aparna Rao Priti Sahay Pablo Fornero Osvaldo Cuello Delia Sivori Tamara Zompa Richard A Mills Emmanuelle Souzeau Paul Mitchell Jie Jin Wang Alex W Hewitt Michael Coote Jonathan G Crowston Sergei Y Astakhov Eugeny L Akopov Anton Emelyanov Vera Vysochinskaya Gyulli Kazakbaeva Rinat Fayzrakhmanov Saleh A Al-Obeidan Ohoud Owaidhah Leyla Ali Aljasim Balram Chowbay Jia Nee Foo Raphael Q Soh Kar Seng Sim Zhicheng Xie Augustine W O Cheong Shi Qi Mok Hui Meng Soo Xiao Yin Chen Su Qin Peh Khai Koon Heng Rahat Husain Su-Ling Ho Axel M Hillmer Ching-Yu Cheng Francisco A Escudero-Domínguez Rogelio González-Sarmiento Frederico Martinon-Torres Antonio Salas Kessara Pathanapitoon Linda Hansapinyo Boonsong Wanichwecharugruang Naris Kitnarong Anavaj Sakuntabhai Hip X Nguyn Giang T T Nguyn Trình V Nguyn Werner Zenz Alexander Binder Daniela S Klobassa Martin L Hibberd Sonia Davila Stefan Herms Markus M Nöthen Susanne Moebus Robyn M Rautenbach Ari Ziskind Trevor R Carmichael Michele Ramsay Lydia Álvarez Montserrat García Héctor González-Iglesias Pedro P Rodríguez-Calvo Luis Fernández-Vega Cueto Çilingir Oguz Nevbahar Tamcelik Eray Atalay Bilge Batu Dilek Aktas Burcu Kasım M Roy Wilson Anne L Coleman Yutao Liu Pratap Challa Leon Herndon Rachel W Kuchtey John Kuchtey Karen Curtin Craig J Chaya Alan Crandall Linda M Zangwill Tien Yin Wong Masakazu Nakano Shigeru Kinoshita Anneke I den Hollander Eija Vesti John H Fingert Richard K Lee Arthur J Sit Bradford J Shingleton Ningli Wang Daniele Cusi Raheel Qamar Peter Kraft Margaret A Pericak-Vance Soumya Raychaudhuri Steffen Heegaard Tero Kivelä André Reis Friedrich E Kruse Robert N Weinreb Louis R Pasquale Jonathan L Haines Unnur Thorsteinsdottir Fridbert Jonasson R Rand Allingham Dan Milea Robert Ritch Toshiaki Kubota Kei Tashiro Eranga N Vithana Shazia Micheal Fotis Topouzis Jamie E Craig Michael Dubina Periasamy Sundaresan Kari Stefansson Janey L Wiggs Francesca Pasutto Chiea Chuen Khor

Nat Genet 2017 07 29;49(7):993-1004. Epub 2017 May 29.

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1038/ng.3875DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6685441PMC
July 2017

Neurotoxicity of Insecticides.

Curr Med Chem 2017 ;24(27):2988-3001

Département de Biochimie et Génétique, Centre Hospitalier Universitaire, 4 rue Larrey, Angers, F-49933. France.

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http://dx.doi.org/10.2174/0929867324666170526122654DOI Listing
October 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

Letter in response to remote ischaemic conditioning provides humoral cross-species cardioprotection through glycine receptor activation.

Cardiovasc Res 2017 05;113(6):562

Institut Mitovasc, INSERM-CNRS, Université d'Angers, CHU d'Angers, 4 rue larrey, 49933 Angers, France.

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https://academic.oup.com/cardiovascres/article-lookup/doi/10
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http://dx.doi.org/10.1093/cvr/cvx035DOI Listing
May 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

A Nontargeted UHPLC-HRMS Metabolomics Pipeline for Metabolite Identification: Application to Cardiac Remote Ischemic Preconditioning.

Anal Chem 2017 02 6;89(3):2138-2146. Epub 2017 Jan 6.

PREMMi, Pôle de Recherche et d'Enseignement en Médecine Mitochondriale, Institut MITOVASC, CNRS 6214, INSERM U1083, Université d'Angers , 4 Rue Larrey, 49933 Angers CEDEX 9, France.

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http://pubs.acs.org/doi/10.1021/acs.analchem.6b04912
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http://dx.doi.org/10.1021/acs.analchem.6b04912DOI Listing
February 2017

Clinical and biological specificity of beta-thalassemia intermedia: a case report.

Ann Biol Clin (Paris) 2016 Dec;74(6):688-692

Centre Hospitalier Universitaire, Département de biochimie et génétique, Angers, France.

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http://dx.doi.org/10.1684/abc.2016.1197DOI Listing
December 2016

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

Increased mitochondrial fusion in a autosomal recessive CMT2A family with mitochondrial GTPase mitofusin 2 mutations.

J Peripher Nerv Syst 2016 12;21(4):365-369

PREMMi/Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6214, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France.

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http://dx.doi.org/10.1111/jns.12192DOI Listing
December 2016

Metabolic Signature of Remote Ischemic Preconditioning Involving a Cocktail of Amino Acids and Biogenic Amines.

J Am Heart Assoc 2016 Sep 24;5(9). Epub 2016 Sep 24.

University of Angers, France Department of Biochemistry and Genetics, University Hospital of Angers, France Laboratory of Neurovascular and Mitochondrial Integrated Biology, National Institute of Medical Research (INSERM) U771, National Centre of Scientific Research (CNRS) UMR 6214, Angers, France.

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http://dx.doi.org/10.1161/JAHA.116.003891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079040PMC
September 2016

Recurrent Isolated Neonatal Hemolytic Anemia: Think About Glutathione Synthetase Deficiency.

Pediatrics 2016 09;138(3)

Department of Biochemistry and Genetics, University Hospital, Angers, France

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http://dx.doi.org/10.1542/peds.2015-4324DOI Listing
September 2016

Ovarian ageing: the role of mitochondria in oocytes and follicles.

Hum Reprod Update 2016 11 25;22(6):725-743. Epub 2016 Aug 25.

PREMMi/Pôle de Recherche et d'Enseignement en Médecine Mitochondriale, Institut MITOVASC, CNRS 6214, INSERM U1083, Université d'Angers, Angers, France.

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http://dx.doi.org/10.1093/humupd/dmw028DOI Listing
November 2016

Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis.

Ann Clin Transl Neurol 2016 Jun 25;3(6):408-21. Epub 2016 Apr 25.

Center of Developmental Biology (CBD)/Research Center on Animal Cognition (CRCA) Center for Integrative Biology (CBI) Toulouse University, CNRS, UPS Toulouse France.

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http://dx.doi.org/10.1002/acn3.305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891995PMC
June 2016

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

Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria.

Hum Mol Genet 2015 Sep 12;24(17):5015-23. Epub 2015 Jun 12.

Département de Biochimie et Génétique and UMR CNRS 6214 - INSERM 1083, Centre Hospitalier Universitaire, 4 rue Larrey, Angers 49933, France,

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http://dx.doi.org/10.1093/hmg/ddv222DOI Listing
September 2015

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

A common variant near TGFBR3 is associated with primary open angle glaucoma.

Authors:
Zheng Li R Rand Allingham Masakazu Nakano Liyun Jia Yuhong Chen Yoko Ikeda Baskaran Mani Li-Jia Chen Changwon Kee David F Garway-Heath Sarangapani Sripriya Nobuo Fuse Khaled K Abu-Amero Chukai Huang Prasanthi Namburi Kathryn Burdon Shamira A Perera Puya Gharahkhani Ying Lin Morio Ueno Mineo Ozaki Takanori Mizoguchi Subbiah Ramasamy Krishnadas Essam A Osman Mei Chin Lee Anita S Y Chan Liza-Sharmini A Tajudin Tan Do Aurelien Goncalves Pascal Reynier Hong Zhang Rupert Bourne David Goh David Broadway Rahat Husain Anil K Negi Daniel H Su Ching-Lin Ho Augusto Azuara Blanco Christopher K S Leung Tina T Wong Azhany Yakub Yutao Liu Monisha E Nongpiur Jong Chul Han Do Nhu Hon Balekudaru Shantha Bowen Zhao Jinghong Sang NiHong Zhang Ryuichi Sato Kengo Yoshii Songhomita Panda-Jonas Allison E Ashley Koch Leon W Herndon Sayoko E Moroi Pratap Challa Jia Nee Foo Jin-Xin Bei Yi-Xin Zeng Cameron P Simmons Tran Nguyen Bich Chau Philomenadin Ferdinamarie Sharmila Merwyn Chew Blanche Lim Pansy O S Tam Elaine Chua Xiao Yu Ng Victor H K Yong Yaan Fun Chong Wee Yang Meah Saravanan Vijayan Sohn Seongsoo Wang Xu Yik Ying Teo Jessica N Cooke Bailey Jae H Kang Jonathan L Haines Ching Yu Cheng Seang-Mei Saw E-Shyong Tai Julia E Richards Robert Ritch Douglas E Gaasterland Louis R Pasquale Jianjun Liu Jost B Jonas Dan Milea Ronnie George Saleh A Al-Obeidan Kazuhiko Mori Stuart Macgregor Alex W Hewitt Christopher A Girkin Mingzhi Zhang Periasamy Sundaresan Lingam Vijaya David A Mackey Tien Yin Wong Jamie E Craig Xinghuai Sun Shigeru Kinoshita Janey L Wiggs Chiea-Chuen Khor Zhenglin Yang Chi Pui Pang Ningli Wang Michael A Hauser Kei Tashiro Tin Aung Eranga N Vithana

Hum Mol Genet 2015 Jul 10;24(13):3880-92. Epub 2015 Apr 10.

Singapore Eye Research Institute, Department of Ophthalmology, Yong Loo Lin School of Medicine, Duke-NUS Graduate Medical School, Singapore, Singapore,

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http://dx.doi.org/10.1093/hmg/ddv128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4459396PMC
July 2015

A mitochondria-specific isoform of FASTK is present in mitochondrial RNA granules and regulates gene expression and function.

Cell Rep 2015 Feb 19;10(7):1110-21. Epub 2015 Feb 19.

Department of Cell Biology, University of Geneva, 30 quai Ernest-Ansermet, 1211 Genève 4, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.01.063DOI Listing
February 2015

[Metabolome and mass spectrometry: new biomedical analysis perspectives].

Ann Biol Clin (Paris) 2015 Jan-Feb;73(1):126-30

Département de biochimie et génétique, CHU d'Angers, Angers, France.

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http://dx.doi.org/10.1684/abc.2014.1020DOI Listing
March 2016

[Multiorgan failure after sickle cell vaso occlusive attack: integrated clinical and biological emergency].

Ann Biol Clin (Paris) 2014 Sep-Oct;72(5):602-6

Centre hospitalier universitaire, Département de biochimie et génétique, Angers, France.

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http://dx.doi.org/10.1684/abc.2014.0996DOI Listing
November 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
Publisher Site
http://dx.doi.org/10.1002/humu.22703DOI Listing
January 2015

Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells.

Biochimie 2014 Nov 8;106:157-66. Epub 2014 Sep 8.

LUNAM Université, INSERM UMR 1063, IBIS, IRIS, rue des capucins, 49100 Angers, France; Centre Hospitalier Universitaire, Département de Biochimie et Génétique, IBIS, IRIS, rue des capucins, 49100 Angers, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03009084140024
Publisher Site
http://dx.doi.org/10.1016/j.biochi.2014.08.014DOI Listing
November 2014

Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model.

Int J Biochem Cell Biol 2014 Jun 13;51:93-101. Epub 2014 Apr 13.

UMR INSERM 1063, Angers, France; Centre Hospitalier Universitaire, Département de Biochimie et Génétique, Angers, France.

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http://dx.doi.org/10.1016/j.biocel.2014.03.032DOI Listing
June 2014