emmanuelle sarzi

22
Documents
Affiliation actuelle
  • Institut des Neurosciences de Montpellier (INM)
Identifiants chercheurs

Publications

Publications

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The human OPA1 delTTAG mutation induces adult onset and progressive auditory neuropathy in mice

Corentin Affortit , Carolanne Coyat , Anissa Rym Saidia , Jean-Charles Ceccato , Majida Charif et al.

Cellular and Molecular Life Sciences, 2024, 81, pp.80. ⟨10.1007/s00018-024-05115-4⟩

Article dans une revue hal-04501558v1
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Optic neuropathy linked to ACAD9 pathogenic variants: a potentially riboflavin-responsive disorder?

Naïg Gueguen , Julie Piarroux , Emmanuelle Sarzi , Mehdi Benkirane , Gaël Manes et al.

Mitochondrion, 2021, 59, pp.169-174. ⟨10.1016/j.mito.2021.05.002⟩

Article dans une revue hal-03234769v1
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Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

Agathe Roubertie , Majida Charif , Pierre Meyer , Gaël Manes , Isabelle Meunier et al.

Annals of Clinical and Translational Neurology, 2019, 6 (8), pp.1572-1577. ⟨10.1002/acn3.50860⟩

Article dans une revue hal-04956737v1
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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy

Camille Piro-Mégy , Emmanuelle Sarzi , Aleix Tarrés-Solé , Marie Péquignot , Fenna Hensen et al.

Journal of Clinical Investigation, 2019, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩

Article dans une revue hal-02388212v1
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OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model

Emmanuelle Sarzi , Marie Seveno , Camille Piro-Mégy , Lucie Elzière , Mélanie Quiles et al.

Scientific Reports, 2018, 8, pp.2468. ⟨10.1038/s41598-018-20838-8⟩

Article dans une revue hal-01964503v1
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ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

Cecilia Marelli , Christian Hamel , Melanie Quiles , Bertrand Carlander , Lise Larrieu et al.

Neurology Genetics, 2018, 4 (2), pp.e225. ⟨10.1212/NXG.0000000000000225⟩

Article dans une revue hal-02337842v1
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Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells <em>In Vivo</em>

Jolanta Jagodzinska , Emmanuelle Sarzi , Mélanie Cavalier , Marie Seveno , Volker Baecker et al.

Journal of visualized experiments : JoVE, 2017, 127, ⟨10.3791/55865⟩

Article dans une revue hal-02478978v1
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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-01784466v1

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

Juan Manuel Chao de la Barca , Delphine Prunier-Mirebeau , Patrizia Amati-Bonneau , Marc Ferré , Emmanuelle Sarzi et al.

Neurobiology of Disease, 2016, 90, pp.20-26. ⟨10.1016/j.nbd.2015.08.015⟩

Article dans une revue istex hal-04956770v1

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy

Emmanuelle Sarzi , Marie Seveno , Claire Angebault , Dan Milea , Cecilia Rönnbäck et al.

Human Molecular Genetics, 2016, 25 (12), pp.2539-2551. ⟨10.1093/hmg/ddw117⟩

Article dans une revue hal-01867305v1

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath

Sergio Gonzalez , Ruani Fernando , Jade Berthelot , Claire Perrin-Tricaud , Emmanuelle Sarzi et al.

Mitochondrion, 2015, 23, pp.32-41. ⟨10.1016/j.mito.2015.05.004⟩

Article dans une revue istex hal-04956776v1

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction

Agathe Roubertie , Nicolas Leboucq , Marie-Christine Picot , Erika Nogue , Hervé Brunel et al.

Journal of the Neurological Sciences, 2015, 349 (1-2), pp.154-60. ⟨10.1016/j.jns.2015.01.008⟩

Article dans une revue istex hal-01392222v1

Why Mitochondria Must Fuse to Maintain Their Genome Integrity

Sara Vidoni , Claudia Zanna , Michela Rugolo , Emmanuelle Sarzi , Guy Lenaers

Antioxidants and Redox Signaling, 2013, 19 (4), pp.379-388. ⟨10.1089/ars.2012.4800⟩

Article dans une revue hal-04956893v1

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution

Ghizlane Elachouri , Sara Vidoni , Claudia Zanna , Alexandre Pattyn , Hassan Boukhaddaoui et al.

Genome Research, 2011, 21 (1), pp.12-20. ⟨10.1101/gr.108696.110⟩

Article dans une revue hal-04956897v1

Instabilité du génome mitochondrial et pathologies associées

Emmanuelle Sarzi , Agnès Rötig

Médecine/Sciences, 2010, 26 (2), pp.171-176. ⟨10.1051/medsci/2010262171⟩

Article dans une revue hal-04956909v1

Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion

Emmanuelle Sarzi , Steffi Goffart , Valérie Serre , Dominique Chrétien , Abdelhamid Slama et al.

Annals of Neurology, 2007, 62 (6), pp.579-587. ⟨10.1002/ana.21207⟩

Article dans une revue istex hal-04956914v1

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

Alice Bourdon , Limor Minai , Valérie Serre , Jean-Philippe Jais , Emmanuelle Sarzi et al.

Nature Genetics, 2007, 39 (6), pp.776-780. ⟨10.1038/ng2040⟩

Article dans une revue hal-04956920v1

Mitochondrial DNA Depletion is a Prevalent Cause of Multiple Respiratory Chain Deficiency in Childhood

Emmanuelle Sarzi , Alice Bourdon , Dominique Chrétien , Mohamed Zarhrate , Johanna Corcos et al.

The Journal of Pediatrics, 2007, 150 (5), pp.531-534.e6. ⟨10.1016/j.jpeds.2007.01.044⟩

Article dans une revue hal-04956922v1

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia

Emmanuelle Sarzi , Michael Brown , Sophie Lebon , Dominique Chretien , Arnold Munnich et al.

American Journal of Medical Genetics Part A, 2006, 143A (1), pp.33-41. ⟨10.1002/ajmg.a.31565⟩

Article dans une revue istex hal-04956925v1

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola , Carlo Viscomi , Erika Fernandez-Vizarra , Franco Carrara , Pio d'Adamo et al.

Nature Genetics, 2006, 38 (5), pp.570-575. ⟨10.1038/ng1765⟩

Article dans une revue hal-04956929v1

Molecular diagnostics of mitochondrial disorders

Agnès Rötig , Sophie Lebon , Elena Zinovieva , Julie Mollet , Emmanuelle Sarzi et al.

Biochimica biophysica acta (BBA) - Bioenergetics, 2004, 1659 (2-3), pp.129-135. ⟨10.1016/j.bbabio.2004.07.007⟩

Article dans une revue istex hal-04956934v1