Claudia Zanna
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Explore the profile of Claudia Zanna including associated specialties, affiliations and a list of published articles.
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35
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1629
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Recent Articles
1.
Aleo S, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, et al.
Cell Rep Med
. 2024 Jan;
5(2):101383.
PMID: 38272025
Idebenone, the only approved treatment for Leber hereditary optic neuropathy (LHON), promotes recovery of visual function in up to 50% of patients, but we can neither predict nor understand the...
2.
Righetti R, Grillini S, Del Dotto V, Costanzini A, Liuzzi F, Zanna C, et al.
Int J Mol Sci
. 2023 Oct;
24(19).
PMID: 37834071
Cancer cells overexpress IF, the endogenous protein that inhibits the hydrolytic activity of ATP synthase when mitochondrial membrane potential (Δμ) falls, as in ischemia. Other roles have been ascribed to...
3.
Danese A, Patergnani S, Maresca A, Peron C, Raimondi A, Caporali L, et al.
Cell Rep
. 2022 Jul;
40(3):111124.
PMID: 35858578
Leber's hereditary optic neuropathy (LHON), a disease associated with a mitochondrial DNA mutation, is characterized by blindness due to degeneration of retinal ganglion cells (RGCs) and their axons, which form...
4.
Rugolo M, Zanna C, Ghelli A
Life (Basel)
. 2021 Apr;
11(4).
PMID: 33920624
The mitochondrial respiratory chain encompasses four oligomeric enzymatic complexes (complex I, II, III and IV) which, together with the redox carrier ubiquinone and cytochrome , catalyze electron transport coupled to...
5.
Aleo S, Del Dotto V, Fogazza M, Maresca A, Lodi T, Goffrini P, et al.
Hum Mol Genet
. 2020 Nov;
29(22):3631-3645.
PMID: 33231680
OPA1 mutations are the major cause of dominant optic atrophy (DOA) and the syndromic form DOA plus, pathologies for which there is no established cure. We used a 'drug repurposing'...
6.
Liparulo I, Bergamini C, Bortolus M, Calonghi N, Gasparre G, Kurelac I, et al.
FEBS J
. 2020 Sep;
288(6):1956-1974.
PMID: 32898935
Coenzyme Q (CoQ, ubiquinone) is a redox-active lipid endogenously synthesized by the cells. The final stage of CoQ biosynthesis is performed at the mitochondrial level by the 'complex Q', where...
7.
Chao de la Barca J, Fogazza M, Rugolo M, Chupin S, Del Dotto V, Ghelli A, et al.
Hum Mol Genet
. 2020 Mar;
29(8):1319-1329.
PMID: 32202296
Interpretation of variants of uncertain significance is an actual major challenge. We addressed this question on a set of OPA1 missense variants responsible for variable severity of neurological impairments. We...
8.
Maresca A, Del Dotto V, Capristo M, Scimonelli E, Tagliavini F, Morandi L, et al.
Hum Mol Genet
. 2020 Jan;
29(11):1864-1881.
PMID: 31984424
ADCA-DN and HSN-IE are rare neurodegenerative syndromes caused by dominant mutations in the replication foci targeting sequence (RFTS) of the DNA methyltransferase 1 (DNMT1) gene. Both phenotypes resemble mitochondrial disorders,...
9.
Tropeano C, Aleo S, Zanna C, Roberti M, Scandiffio L, Loguercio Polosa P, et al.
Biochim Biophys Acta Bioenerg
. 2019 Dec;
1861(2):148133.
PMID: 31825807
The respiratory complexes are organized in supramolecular assemblies called supercomplexes thought to optimize cellular metabolism under physiological and pathological conditions. In this study, we used genetically and biochemically well characterized...
10.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, et al.
J Clin Invest
. 2019 Sep;
130(1):108-125.
PMID: 31550240
Inherited optic neuropathies include complex phenotypes, mostly driven by mitochondrial dysfunction. We report an optic atrophy spectrum disorder, including retinal macular dystrophy and kidney insufficiency leading to transplantation, associated with...