APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

Autor: Alba Signes, Raffaele Cerutti, Anna S Dickson, Cristiane Benincá, Elizabeth C Hinchy, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini, Michael P Murphy, James A Nathan, Carlo Viscomi, Erika Fernandez‐Vizarra, Massimo Zeviani

Publikováno v: EMBO Molecular Medicine, Vol 11, Iss 1, Pp 1-21 (2018)

Abstract Loss‐of‐function mutations in APOPT1, a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome c oxidase (COX) deficiency. Although the genetic

Externí odkaz: https://doaj.org/article/215a8a7301c4477ba2ac4a4276753ce7

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

Autor: Dario Brunetti, Janniche Torsvik, Cristina Dallabona, Pedro Teixeira, Pawel Sztromwasser, Erika Fernandez‐Vizarra, Raffaele Cerutti, Aurelio Reyes, Carmela Preziuso, Giulia D'Amati, Enrico Baruffini, Paola Goffrini, Carlo Viscomi, Ileana Ferrero, Helge Boman, Wenche Telstad, Stefan Johansson, Elzbieta Glaser, Per M Knappskog, Massimo Zeviani, Laurence A Bindoff

Publikováno v: EMBO Molecular Medicine, Vol 8, Iss 3, Pp 176-190 (2015)

Abstract Mitochondrial dysfunction and altered proteostasis are central features of neurodegenerative diseases. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondrial matrix enzyme, which digests oligopeptides, including the mitochondrial targ

Externí odkaz: https://doaj.org/article/9e38dde157b64f9cb256e35e44049577

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

Autor: Shuaifeng Li, Julien Prudent, Sebastian Valenzuela, Bradley Peter, Lisa Tilokani, Maria Falkenberg, Raffaele Cerutti, Carlos Pardo-Hernández, Laurence A. Bindoff, Carlo Viscomi, Massimo Zeviani, Michal Minczuk, Sukru Anil Dogan, Pedro Silva-Pinheiro, Bertil Macao, Anup Mishra, Aurelio Reyes, Dieu-Hien Rozsivalova, Patricio Fernández-Silva, Aleksandra Trifunovic

Publikováno v: Nucleic Acids Research
Nucleic Acids Research (NAR)

Mutations in POLG, encoding POLγA, the catalytic subunit of the mitochondrial DNA polymerase, cause a spectrum of disorders characterized by mtDNA instability. However, the molecular pathogenesis of POLG-related diseases is poorly understood and eff

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb4058f1c2113e0f496a974839d9dc1d
https://pubmed.ncbi.nlm.nih.gov/34520541

Opa1 Overexpression Protects from Early-Onset Mpv17

Autor: Marta, Luna-Sanchez, Cristiane, Benincá, Raffaele, Cerutti, Gloria, Brea-Calvo, Anna, Yeates, Luca, Scorrano, Massimo, Zeviani, Carlo, Viscomi

Publikováno v: Mol Ther

Moderate overexpression of Opa1, the master regulator of mitochondrial cristae morphology, significantly improved mitochondrial damage induced by drugs, surgical denervation, or oxidative phosphorylation (OXPHOS) defects due to specific impairment of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fb5c439a09e18f959c6bfa12725601b5
https://pubmed.ncbi.nlm.nih.gov/32679032

A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4−/− Mice

Autor: Marta Luna-Sanchez, Massimo Zeviani, Raffaele Cerutti, Carlo Viscomi, Pedro Silva-Pinheiro

Publikováno v: Molecular Therapy-Methods & Clinical Development
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 1071-1078 (2020)
Molecular Therapy. Methods & Clinical Development

Leigh syndrome, or infantile necrotizing subacute encephalopathy (OMIM #256000), is one of the most common manifestations of mitochondrial dysfunction, due to mutations in more than 75 genes, with mutations in respiratory complex I subunits being the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef4e65792b43a68fa5915319c2d1115f
http://hdl.handle.net/11577/3341900