Search Results - "Gasparre, Giuseppe"
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Non-Canonical Mechanisms Regulating Hypoxia-Inducible Factor 1 Alpha in Cancer
Published in Frontiers in oncology (27-11-2017)“…Hypoxia-inducible factor 1 alpha (HIF-1α) orchestrates cellular adaptation to low oxygen and nutrient-deprived environment and drives progression to malignancy…”
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HmtVar: a new resource for human mitochondrial variations and pathogenicity data
Published in Nucleic acids research (08-01-2019)“…Abstract Interest in human mitochondrial genetic data is constantly increasing among both clinicians and researchers, due to the involvement of mitochondrial…”
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Packaging and transfer of mitochondrial DNA via exosomes regulate escape from dormancy in hormonal therapy-resistant breast cancer
Published in Proceedings of the National Academy of Sciences - PNAS (24-10-2017)“…The horizontal transfer of mtDNA and its role in mediating resistance to therapy and an exit from dormancy have never been investigated. Here we identified the…”
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MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing
Published in Bioinformatics (Oxford, England) (01-11-2014)“…The increasing availability of mitochondria-targeted and off-target sequencing data in whole-exome and whole-genome sequencing studies (WXS and WGS) has risen…”
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Inducing cancer indolence by targeting mitochondrial Complex I is potentiated by blocking macrophage-mediated adaptive responses
Published in Nature communications (22-02-2019)“…Converting carcinomas in benign oncocytomas has been suggested as a potential anti-cancer strategy. One of the oncocytoma hallmarks is the lack of respiratory…”
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Learning from oncocytic tumors: Why choose inefficient mitochondria?
Published in Biochimica et biophysica acta (01-06-2011)“…A prominent role for mitochondrial genes and metabolism has been recently characterized in oncocytic transformation of cancer cells. From mitochondrial…”
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Self-renewal of CD133hi cells by IL6/Notch3 signalling regulates endocrine resistance in metastatic breast cancer
Published in Nature communications (09-02-2016)“…The mechanisms of metastatic progression from hormonal therapy (HT) are largely unknown in luminal breast cancer. Here we demonstrate the enrichment of CD133…”
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The reference human nuclear mitochondrial sequences compilation validated and implemented on the UCSC genome browser
Published in BMC genomics (20-10-2011)“…Eukaryotic nuclear genomes contain fragments of mitochondrial DNA called NumtS (Nuclear mitochondrial Sequences), whose mode and time of insertion, as well as…”
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Inducing respiratory complex I impairment elicits an increase in PGC1α in ovarian cancer
Published in Scientific reports (16-05-2022)“…Anticancer strategies aimed at inhibiting Complex I of the mitochondrial respiratory chain are increasingly being attempted in solid tumors, as functional…”
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A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest
Published in Human genetics (01-01-2016)“…Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are…”
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OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution
Published in Genome research (01-01-2011)“…Eukaryotic cells harbor a small multiploid mitochondrial genome, organized in nucleoids spread within the mitochondrial network. Maintenance and distribution…”
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Complex I impairment in mitochondrial diseases and cancer: Parallel roads leading to different outcomes
Published in The international journal of biochemistry & cell biology (01-01-2013)“…Respiratory chain complex I (CI) dysfunctions have been recognized as one of the most frequent causes of mitochondrial neuro-muscular disorders. Moreover,…”
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NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate
Published in Cell reports (Cambridge) (20-04-2021)“…Complex I (CI) is the largest enzyme of the mitochondrial respiratory chain, and its defects are the main cause of mitochondrial disease. To understand the…”
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Plasma-activated Ringer's Lactate Solution Displays a Selective Cytotoxic Effect on Ovarian Cancer Cells
Published in Cancers (18-02-2020)“…Epithelial Ovarian Cancer (EOC) is one of the leading causes of cancer-related deaths among women and is characterized by the diffusion of nodules or plaques…”
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Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
Published in International journal of molecular sciences (29-05-2021)“…The NBN gene has been included in breast cancer (BC) multigene panels based on early studies suggesting an increased BC risk for carriers, though not confirmed…”
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Mitochondrial DNA analysis efficiently contributes to the identification of metastatic contralateral breast cancers
Published in Journal of cancer research and clinical oncology (01-02-2021)“…Purpose In daily practice, a contralateral breast cancer (CBC) is usually considered as a new independent tumor despite the indications of several studies…”
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Modulation of RAB7A Protein Expression Determines Resistance to Cisplatin through Late Endocytic Pathway Impairment and Extracellular Vesicular Secretion
Published in Cancers (08-01-2019)“…Cisplatin (CDDP) is widely used in treatment of cancer, yet patients often develop resistance with consequent therapeutical failure. In CDDP-resistant cells…”
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HmtDB, a genomic resource for mitochondrion-based human variability studies
Published in Nucleic acids research (01-01-2012)“…HmtDB (http://www.hmtdb.uniba.it:8080/hmdb) is a open resource created to support population genetics and mitochondrial disease studies. The database hosts…”
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Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors
Published in Proceedings of the National Academy of Sciences - PNAS (22-05-2007)“…Oncocytic tumors are a distinctive class of proliferative lesions composed of cells with a striking degree of mitochondrial hyperplasia that are particularly…”
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Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity
Published in Neurobiology of disease (01-04-2019)“…Spinocerebellar ataxia 28 is an autosomal dominant neurodegenerative disorder caused by missense mutations affecting the proteolytic domain of AFG3L2, a major…”
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