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Jonathan Levy

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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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In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder

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By Xin Gao, Maximiliano Presa, Jennifer Ryan, Alvin Hsu, Samagya Banskota, Allen Jiang, Lingxiao Chen, Gregory A. Newby, Erminia Di Pietro, Jonathan Levy, Ann B Moser, Jun Xie, Guangping Gao, Nancy E. Braverman, Aamir R. Zuberi, Cathleen M Lutz, David R. Liu, Jordyn E. Duby, Pierre-Alexandre Piec, Bradford H. Steele, Sarah Lecordier, Fangfei Qin, Joseph G. Hacia
| Nature Verified
Abstract Zellweger spectrum disorder (ZSD) is caused by biallelic loss-of-function variants in PEX genes required for peroxisome biogenesis, which is critical for normal cellular metabolism and signalling. The PEX1-p.G843D (c.2528G>A) allele, present in approximately 30% of individuals with ZSD, frequently results in chronic liver disease that can progress to cirrhosis, hepatocellular carcinoma and degraded neurological health.
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Correction: Comprehensive analysis of CNOT3 -related neurodevelopmental disorders: phenotypic and genotypic characterization

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By Camille Engel, Emanuela Argilli, Pierre Blanc, Lucía Bruno, Bert Louis Callewaert, Valeria Capra, Michele Carullo, Bertrand Chesneau, Sandra Coppens, Cynthia Curry, Breanne Dale, Eric Dahlen, Andree Delahaye-Duriez, Anne-Sophie Denommé-Pichon, Lenka Dvorakova, Jan Fischer, David Geneviève, Thea Giacomini, Irina Hüning, Bertrand Isidor, Boris Keren, Stanislav Kmoch, David A. Koolen, Andrea Kübler, Carolyn Le, Jonathan Levy, Caterina Rizzo, Silvia Maitz, Sandrine Marlin, Cyril Mignot, Ghayda M. Mirzaa, Inga Nagel, Sebastian Neuens, Emily M Pao, Julie Plaisancié, Flavia Privitera, André Reis, Alessandra Renieri, Marlene Rio, Alyssa L. Rippert, Lukáš Ryba, Jolanda H. Schieving, Elliott H. Sherr, Andrew Y. Shuen, Richard Sidlow, Thomas Smol, Julie Soblet, Pasquale Striano, Mohnish Suri, Frédéric Tran Mau-Them, André M. Travessa, Julien Van Gils, Georgia Vasileiou, Jolijn Verseput, Catheline Vilain, Catherine Vincent-Delorme, Emma L. Wakeling, Pia Zacher, Federico Zara, Paul Kuentz, Juliette Piard, Michaela Rendek, Jessica Assoumani, Francesca Ariani, Anne-Laude Avice-Denizet, Emilia K. Bijlsma, Bénédicte Demeer, Mette M. Handrup, Michelle Iacomino, Lenka Nosková, Anna Pecková, Joseph Porrmann, Hannes Syryn, Emílie Vyhnálková
| Nature Verified
Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-025-01884-z, published online 25 June 2025 In the original article last name of author Emilia K. Bijlsma was incorrectly written as Bijlsmaa. The original article has been corrected. About this article Engel, C., Rendek, M., Assoumani, J. et al. Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization. Eur J Hum Genet (2026).
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