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Olivier R. Baris on Muck Rack

Olivier R. Baris

As seen in: Nature, Cell Press, The American Journal of Human Genetics
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Articles

Pathophysiological insights into ACO2 -related inherited disorders through combined functional and multi-omic analyses of ACO2 patient-derived fibroblasts

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By Cléis Beaulieu, Cinzia Bocca, Naïg Gueguen, Valérie Desquiret-Dumas, Majida Charif, Magalie Barth, Adélie Mellinger, Delphine Prunier-Mirebeau, Salim Khiati, Marco Spinazzi, Arnaud Chevrollier, Olivier R. Baris, Guy Lenaers, Aymane Bouzidi, Ismail Gouiza, Béatrice Vary, Florence Pascaretti-Grizon, Nolwenn Bounaix
| Nature Verified
Abstract ACO2 encodes the mitochondrial aconitase, involved in the second step of the tricarboxylic acid cycle. ACO2 variants cause isolated dominant or recessive optic atrophy, characterized by the degeneration of the optic nerves and leading to vision loss with high clinical heterogeneity, which ranges from pauci-symptomatic to legally blind patients.
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Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

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By Claudie Gabillard-Lefort, Caroline Martinez, Naïg Gueguen, Louis Legoff, Anne Guimier, Sophie Rondeau, Giulia Barcia, Christine Barnerias, Benjamin Cogné, Thomas Besnard, Jessica Douglas, Olaf A Bodamer, Annalisa Vetro, Renzo Guerrini, Simona Balestrini, Valerio Conti, Laura Siri, Arnaud Chevrollier, Estelle Colin, Vincent Procaccio, Guy Lenaers, Salim Khiati, Mathilde Nizon, Olivier R. Baris, Valérie Desquiret-Dumas, Méline Wery, Elsa Lorino, Céline Bris, Delphine Prunier-Mirebeau
| The American Journal of Human Genetics Verified
Keywords TM2D3 neurodevelopmental disorder endoplasmic reticulum mitochondria ER stress mitochondrial dynamics microcephaly extracellular matrix Get full text access Log in, subscribe or purchase for full access. References 1. Parenti, I. ∙ Rabaneda, L.G. ∙ Schoen, H. ... Neurodevelopmental Disorders: From Genetics to Functional Pathways Trends Neurosci. 2020; 43:608-621 2. Mellone, S. ∙ Puricelli, C. ∙ Vurchio, D. ...
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Science around the world

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By Olivier R. Baris
| Cell Press Verified
1University of Angers, MitoLab, Unité MITOVASC, UMR CNRS 6015, INSERM U1083, SFR ICAT, Angers, France 2Division of Infectious Diseases and International Medicine, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA 3Institute for Molecular Virology, University of Minnesota, Minneapolis, MN 55455, USA 4Center for Genome Engineering, Medical School, University of Minnesota, Minneapolis, MN 55455, USA 5Institute for Engineering in Medicine, University of Minnesota,...
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