Publications by authors named "Massimo Zeviani"

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The homoplasmic MT-TK m.8357T > C mtDNA variant as a cause of multiorgan mitochondrial disease.
Luisa Zupin, Valeria Capaci, Maria Teresa Bonati, Eleonora Lamantea, Muhammad Suleman, Massimo Zeviani

Mitochondrion· November 2025

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Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.
Samantha Corrà, Alessandro Zuppardo, Sebastian Valenzuela, Louise Jenninger, Raffaele Cerutti, Massimo Zeviani

Nat Commun· May 2025

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Uncovering a Novel Pathogenic Mechanism of in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant.
Valeria Capaci, Luisa Zupin, Martina Magistrati, Maria Teresa Bonati, Fulvio Celsi, Massimo Zeviani

Int J Mol Sci· April 2025

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De Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.
Martina Magistrati, Luisa Zupin, Eleonora Lamantea, Enrico Baruffini, Daniele Ghezzi, Massimo Zeviani

Int J Mol Sci· January 2025

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Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co-regulate proteasomes and mitochondria.
Sara Al Rawi, Lorna Simpson, Guðrún Agnarsdóttir, Neil Q McDonald, Veronika Chernuha, Massimo Zeviani

FEBS J· June 2024

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A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA.
Elena Ghirigato, Francesca Terenzi, Mirko Baglivo, Nadia Zanetti, Francesco Baldo, Massimo Zeviani

Neuromuscul Disord· December 2023

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Drosophila Mpv17 forms an ion channel and regulates energy metabolism.
Samantha Corrà, Vanessa Checchetto, Michele Brischigliaro, Chiara Rampazzo, Emanuela Bottani, Massimo Zeviani

iScience· October 2023

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Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes.
Michele Brischigliaro, Alfredo Cabrera-Orefice, Susanne Arnold, Carlo Viscomi, Massimo Zeviani

Elife· October 2023

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PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from -deficient patients.
Alessia Di Donfrancesco, Christian Berlingieri, Marta Giacomello, Chiara Frascarelli, Ana Paula Magalhaes Rebelo, Massimo Zeviani

Front Pharmacol· July 2023

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Xenotopic expression of alternative oxidase (AOX) to study mechanisms of mitochondrial disease.
Carlo Viscomi, Anthony L Moore, Massimo Zeviani, Marten Szibor

Biochim Biophys Acta Bioenerg· April 2023

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Experimental therapy for mitochondrial diseases.
Carlo Viscomi, Massimo Zeviani

Handb Clin Neurol· February 2023

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Two independent respiratory chains adapt OXPHOS performance to glycolytic switch.
Erika Fernández-Vizarra, Sandra López-Calcerrada, Ana Sierra-Magro, Rafael Pérez-Pérez, Luke E Formosa, Massimo Zeviani

Cell Metab· November 2022

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Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice.
Samantha Corrà, Raffaele Cerutti, Valeria Balmaceda, Carlo Viscomi, Massimo Zeviani

Brain· October 2022

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CG7630 is the Drosophila melanogaster homolog of the cytochrome c oxidase subunit COX7B.
Michele Brischigliaro, Alfredo Cabrera-Orefice, Mattia Sturlese, Dei M Elurbe, Elena Frigo, Massimo Zeviani

EMBO Rep· August 2022

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Mitochondrial Cytochrome Oxidase Defects Alter Cellular Homeostasis of Transition Metals.
Michele Brischigliaro, Denis Badocco, Rodolfo Costa, Carlo Viscomi, Massimo Zeviani

Front Cell Dev Biol· May 2022

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The relevance of migraine in the clinical spectrum of mitochondrial disorders.
Alberto Terrin, Luca Bello, Maria Lucia Valentino, Leonardo Caporali, Gianni Sorarù, Massimo Zeviani

Sci Rep· March 2022

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Mitochondrial Neurodegeneration.
Massimo Zeviani, Carlo Viscomi

Cells· February 2022

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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Zheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, Karen Vargas Parra, Sukyeong Lee, Massimo Zeviani

Am J Hum Genet· December 2021

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Mitochondrial Retinopathies.
Massimo Zeviani, Valerio Carelli

Int J Mol Sci· December 2021

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A de novo mutation in mitochondrial ATPsynthase subunit α causes a life threatening disease in neonates which heals in infancy.
Massimo Zeviani

Eur J Hum Genet· November 2021

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Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
Federica Invernizzi, Andrea Legati, Alessia Nasca, Eleonora Lamantea, Barbara Garavaglia, Massimo Zeviani

Brain· October 2021

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Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.
Michele Brischigliaro, Elena Frigo, Samantha Corrà, Cristiano De Pittà, Ildikò Szabò, Massimo Zeviani

J Mol Med (Berl)· October 2021

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Correction to 'DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion'.
Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Massimo Zeviani

Nucleic Acids Res· October 2021

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Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration.
Dario Brunetti, Alessia Catania, Carlo Viscomi, Michela Deleidi, Laurence A Bindoff, Massimo Zeviani

Biomedicines· July 2021

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DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion.
Pedro Silva-Pinheiro, Carlos Pardo-Hernández, Aurelio Reyes, Lisa Tilokani, Anup Mishra, Massimo Zeviani

Nucleic Acids Res· May 2021

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