emmanuelle sarzi

Identifiants chercheurs

IdHAL :

emmanuelle-sarzi

ORCID :

0000-0002-7623-6699

Publications

Article dans une revue (21)

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 Charifet al. Cellular and Molecular Life Sciences, 2024, 81, pp.80. ⟨10.1007/s00018-024-05115-4⟩ Article dans une revue hal-04501558v1
Optic neuropathy linked to ACAD9 pathogenic variants: a potentially riboflavin-responsive disorder? Naïg Gueguen,Julie Piarroux,Emmanuelle Sarzi,Mehdi Benkirane,Gaël Maneset al. Mitochondrion, 2021, 59, pp.169-174. ⟨10.1016/j.mito.2021.05.002⟩ Article dans une revue hal-03234769v1
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy Camille Piro-Mégy,Emmanuelle Sarzi,Aleix Tarrés-Solé,Marie Péquignot,Fenna Hensenet al. Journal of Clinical Investigation, 2019, 130 (1), pp.143-156. ⟨10.1172/JCI128513⟩ Article dans une revue hal-02388212v1
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations! Agathe Roubertie,Majida Charif,Pierre Meyer,Gaël Manes,Isabelle Meunieret al. Annals of Clinical and Translational Neurology, 2019, 6 (8), pp.1572-1577. ⟨10.1002/acn3.50860⟩ Article dans une revue hal-04956737v1
ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia Cecilia Marelli,Christian Hamel,Melanie Quiles,Bertrand Carlander,Lise Larrieuet al. Neurology Genetics, 2018, 4 (2), pp.e225. ⟨10.1212/NXG.0000000000000225⟩ Article dans une revue hal-02337842v1
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 Quileset al. Scientific Reports, 2018, 8, pp.2468. ⟨10.1038/s41598-018-20838-8⟩ Article dans une revue hal-01964503v1
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells &lt;em&gt;In Vivo&lt;/em&gt; Jolanta Jagodzinska,Emmanuelle Sarzi,Mélanie Cavalier,Marie Seveno,Volker Baeckeret al. Journal of visualized experiments : JoVE, 2017, 127, ⟨10.3791/55865⟩ Article dans une revue hal-02478978v1
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 Rousseauet 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 Sarziet 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 Rönnbäcket 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 Sarziet 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 Brunelet 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 Boukhaddaouiet 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 Slamaet 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 Sarziet 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 Corcoset 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 Munnichet 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'Adamoet 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 Sarziet 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

Brevet (1)

METHODS AND COMPOSITIONS FOR TREATING OCULAR DISEASES RELATED TO MITOCHONDRIAL DNA MAINTENANCE Cécile Delettre,Camille Piro-Megy,Emmanuelle Sarzi,Maria Solà,Johannes N Spelbrinket al. France, Patent n° : WO/2020/249769. 2020 Brevet hal-04939335v1