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Raffaele Cerutti

Explore the profile of Raffaele Cerutti including associated specialties, affiliations and a list of published articles. Areas
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Articles 15
Citations 834
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Recent Articles
1.
Corra S, Cerutti R, Balmaceda V, Viscomi C, Zeviani M
Brain . 2022 Oct; 145(10):3405-3414. PMID: 36270002
Leigh disease, or subacute necrotizing encephalomyelopathy, a genetically heterogeneous condition consistently characterized by defective mitochondrial bioenergetics, is the most common oxidative-phosphorylation related disease in infancy. Both neurological signs and pathological...
2.
Silva-Pinheiro P, Pardo-Hernandez C, Reyes A, Tilokani L, Mishra A, Cerutti R, et al.
Nucleic Acids Res . 2021 Sep; 49(18):10803. PMID: 34520541
No abstract available.
3.
Silva-Pinheiro P, Pardo-Hernandez C, Reyes A, Tilokani L, Mishra A, Cerutti R, et al.
Nucleic Acids Res . 2021 May; 49(9):5230-5248. PMID: 33956154
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...
4.
Luna-Sanchez M, Beninca C, Cerutti R, Brea-Calvo G, Yeates A, Scorrano L, et al.
Mol Ther . 2020 Jun; 28(8):1918-1930. PMID: 32562616
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...
5.
Silva-Pinheiro P, Cerutti R, Luna-Sanchez M, Zeviani M, Viscomi C
Mol Ther Methods Clin Dev . 2020 Jun; 17:1071-1078. PMID: 32478122
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...
6.
Signes A, Cerutti R, Dickson A, Beninca C, Hinchy E, Ghezzi D, et al.
EMBO Mol Med . 2018 Dec; 11(1. PMID: 30552096
Loss-of-function mutations in , a gene exclusively found in higher eukaryotes, cause a characteristic type of cavitating leukoencephalopathy associated with mitochondrial cytochrome oxidase (COX) deficiency. Although the genetic association of...
7.
Civiletto G, Dogan S, Cerutti R, Fagiolari G, Moggio M, Lamperti C, et al.
EMBO Mol Med . 2018 Oct; 10(11). PMID: 30309855
The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism. Here, we show that prolonged rapamycin treatment...
8.
Gammage P, Viscomi C, Simard M, Costa A, Gaude E, Powell C, et al.
Nat Med . 2018 Sep; 24(11):1691-1695. PMID: 30250142
Mutations of the mitochondrial genome (mtDNA) underlie a substantial portion of mitochondrial disease burden. These disorders are currently incurable and effectively untreatable, with heterogeneous penetrance, presentation and prognosis. To address...
9.
Dogan S, Cerutti R, Beninca C, Brea-Calvo G, Jacobs H, Zeviani M, et al.
Cell Metab . 2018 Aug; 28(5):764-775.e5. PMID: 30122554
Alternative oxidases (AOXs) bypass respiratory complexes III and IV by transferring electrons from coenzyme Q directly to O. They have therefore been proposed as a potential therapeutic tool for mitochondrial...
10.
Bottani E, Cerutti R, Harbour M, Ravaglia S, Dogan S, Giordano C, et al.
Mol Cell . 2017 Jul; 67(1):96-105.e4. PMID: 28673544
Loss-of-function mutations in TTC19 (tetra-tricopeptide repeat domain 19) have been associated with severe neurological phenotypes and mitochondrial respiratory chain complex III deficiency. We previously demonstrated the mitochondrial localization of TTC19...