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Giulia Barcia

As seen in: Color Research & Application, Nature, Wiley Online Library, The American Journal of Human Genetics
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Articles

COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4 -related Leigh-like encephalopathy

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By Micol Falabella, Jiaze Gao, William L Macken, Chiara Pizzamiglio, Renata Kabiljo, Anna Lucia Francavilla, Pauline Gaignard, Antoine Pouzet, Jonathan Levy, Giulia Barcia, Jamie Leighton, Efstathia Chronopoulou, Germaine Pierre, Ali Dogan Dursun, Rebecca Halligan, Javeria Raza Alvi, Tipu Sultan, William Craigen, Lisa Emrick, Jill A. Rosenfeld, Gehad A. Elmakkawy, Jihye Kim, Joseph J. Gleeson, Aboulfazl Rad, Gabriela Oprea, Maqbool Hussain, Khalil Ur Rehman, Sadia Riaz, Robert Taylor, Vincent Procaccio, Maha S. Zaki, Erika Fernández-Vizarra, Ciro Leonardo Pierri, Michael Hanna, Henry Houlden, Reza Maroofian, Cristina Ugalde, Jan-Willem Taanman, Robert D. S. Pitceathly, Sandra Lopez Calcerrada, Jana Aref, Riza Köksal Özgül, Helen Mundy
| Nature Verified
Abstract Primary mitochondrial diseases (PMDs) affect approximately 1 in 4300 individuals and cause early-onset neuromuscular and multisystem dysfunction with reduced lifespan. They result from pathogenic variants in mitochondrial or nuclear DNA that impair oxidative phosphorylation. Cytochrome c oxidase (COX; complex IV) deficiency is a well-established cause of PMD, leading to a broad spectrum of phenotypes.
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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

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By Rocio Rius, Alexander Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogné, Hyung Chul Kim, Javeria R. Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina A. Austin-Tse, Sarah I. Baer, Meena Balasubramanian, Elsa V. Balton, Giulia Barcia, Jonathan Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C. Bramswig, Frederik Braun, Daniel G. Calame, Jamie Campbell, Charles Coutton, Chloe Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M. Dipple, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Lisa J. Ewans, Vanessa Geiger, Richard Gibbs, Ian Glass, Olivier GRUNEWALD, Paul Gueguen, Tobias B. Haack, Radu Harbuz, Ingo Helbig, Judit M. Horváth, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G. Christoph Korenke, Peter Krawitz, Steven S. Laurie, Richard J. Leventer, Rebecca J. Levy, James R. Lupski, Pierre Marijon, Kaitlin McGinnis, Rodrigo Mendez Verified, Rodrigo Matías Méndez, Olfa Messaoud, Caroline Nava, Anne H. O’Donnell-Luria, Melanie O’Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Jennifer E. Posey, Chloe Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinet, Julien Thevenon, Eloise Uebergang, Catherine Vincent-Delorme, Evangeline Wassmer, Matthew Wheeler, Elif Güleç, Adeline Vanderver, Arastoo Vossough, Stephan Sanders, Siddharth Banka, Gregory M. Findlay, Daniel MacArthur, Cas Simons, Nicola Whiffin, Ana Beleza-Meireles, Daniel Buchzik, Anne Dieux, Fraser Jamie, Urania Kotzaeridou, Mevyn Nizard, Anna Jenne Prentice, Sandra Ueberberg
| Nature Verified
Correction to: Nature Genetics https://doi.org/10.1038/s41588-026-02554-6, published online 8 April 2026. In the version of this article initially published, the last name of Christel Thauvin-Robinet was misspelled (Thauvin-Robinetvin) and is now amended in the HTML and PDF versions of the article.
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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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