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Giuseppe Gasparre

Researcher at University of Bologna

Publications -  113
Citations -  4683

Giuseppe Gasparre is an academic researcher from University of Bologna. The author has contributed to research in topics: Mitochondrial DNA & Cancer. The author has an hindex of 36, co-authored 108 publications receiving 3827 citations. Previous affiliations of Giuseppe Gasparre include University of Bari.

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Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors

TL;DR: Electron microscopy and biochemical and molecular analyses showed that primary cultures derived from tumors bearing disruptive mutations failed to maintain the mutations and the oncocytic phenotype, and it is concluded that disruptive mutations in complex I subunits are markers of thyroid onccytic tumors.
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Defective Oxidative Phosphorylation in Thyroid Oncocytic Carcinoma Is Associated with Pathogenic Mitochondrial DNA Mutations Affecting Complexes I and III

TL;DR: This is the first demonstration that mitochondrial dysfunction of XTC.UC1 is due to a combined complex I/III defect associated with mtDNA mutations, as proven by the transfer of the defective energetic phenotype with the mitochondrial genome into the cybrids.
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OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.

TL;DR: A novel synthetic model is proposed in which a peptide, including two trans-membrane domains derived from the N terminus of the OPA1-exon4b isoform in vertebrates or from its ortholog in lower eukaryotes, might contribute to nucleoid attachment to the inner mitochondrial membrane and promotes mtDNA replication and distribution.
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MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

TL;DR: MToolBox implements an effective computational strategy for mitochondrial genomes assembling and haplogroup assignment also including a prioritization analysis of detected variants, and provides a Variant Call Format file featuring, for the first time, allele-specific heteroplasmy and annotation files with prioritized variants.