Výsledky vyhledávání - "Paola Da Pozzo"

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients

Autor: Michelangelo Mancuso, Alessandro Malandrini, Maria Teresa Dotti, Amedeo Bianchi, Elena Cardaioli, Gabriele Siciliano, Raffaele Rocchi, Fabio Giannini, Alessandra Rufa, Gian Nicola Gallus, Carla Battisti, Paola Da Pozzo, Anna Rubegni, Maria Alessandra Carluccio, Antonio Federico

POLG gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA (mtDNA) replication and repair. Mutations in POLG have been linked to a spectrum of clinical phenotypes, resulting in autosomal recessive or dominant mit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a5fbc9f775e6069b2fee2e817af1ab7
http://hdl.handle.net/11568/864112

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Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Autor: Alessandro Malandrini, Antonio Federico, Paola Da Pozzo, Anna Rubegni, Elena Cardaioli, Ilaria Taglia, Gian Nicola Gallus, Alessandra Rufa

Publikováno v: Neurological Sciences. 36:1713-1715

Progressive external ophthalmoplegia (PEO) with multiple deletions of mitochondrial DNA (mtDNA) is associated with several mutations in nuclear genes. They include POLG, POLG2, ANT1, C10orf2/Twinkle, and OPA1. However, digenic inheritance in mitochon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0754f9933f8bd6e9174052e7e0da5dc8
https://doi.org/10.1007/s10072-015-2247-5

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Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders

Autor: Maria Teresa Dotti, Chiara Branca, Antonio Federico, Elena Radi, Paola Da Pozzo, Patrizia Formichi, Luisa Bracci, Carla Battisti, Fabio Giannini, Jlenia Brunetti

Publikováno v: Journal of the neurological sciences. 368

Background POLG-related disorders are a group of heterogeneous diseases characterized by an overlapping clinical presentations and associated with mutations in the POLG gene. POLG codes for the catalytic subunit of mitochondrial polymerase gamma (POL

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a95684c17838573058c487ff89745d53
https://pubmed.ncbi.nlm.nih.gov/27538665

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Mitochondria, oxidative stress and neurodegeneration

Autor: Elena Radi, Gian Nicola Gallus, Elena Cardaioli, Paola Da Pozzo, Antonio Federico, Patrizia Formichi

Publikováno v: Journal of the Neurological Sciences. 322:254-262

Mitochondria are involved in ATP supply to cells through oxidative phosphorylation (OXPHOS), synthesis of key molecules and response to oxidative stress, as well as in apoptosis. They contain many redox enzymes and naturally occurring inefficiencies

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8116b24af0ed19c2c4c9bf0abca8e31
https://doi.org/10.1016/j.jns.2012.05.030

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Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene

Autor: Edoardo Malfatti, Elena Cardaioli, Antonio Federico, Gian Nicola Gallus, Nila Volpi, Alessandra Rufa, Maria Alessandra Carluccio, Paola Da Pozzo, Maria Teresa Dotti

Publikováno v: Journal of the Neurological Sciences. 303:142-145

We sequenced the mitochondrial genome from a patient with progressive mitochondrial myopathy associated with deafness, sporadic seizures, and histological and biochemical features of mitochondrial respiratory chain dysfunction. Direct sequencing show

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e3d09dfcf45df515a1e1750997b0ead
https://doi.org/10.1016/j.jns.2010.12.020

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A second MNGIE patient without typical mitochondrial skeletal muscle involvement

Autor: Carla Battisti, Alessandro Malandrini, Maria Teresa Dotti, Marco Macucci, Antonio Federico, Paola Da Pozzo, Anna Rubegni, Edoardo Malfatti, Gian Nicola Gallus, Maria Margollicci, Carmen Gaudiano, Elena Cardaioli

Publikováno v: Neurological Sciences. 31:491-494

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease caused by mutations in the gene encoding thymidine phosphorylase (TYMP). Clinically, MNGIE is characterized by gastrointestinal dysmotility, cachexia, pto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ca5fda4bc67e4f8b1070bbef8fa3a0
https://doi.org/10.1007/s10072-010-0225-5

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A novel mutation in the mitochondrial tRNAPro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

Autor: Edoardo Malfatti, Elena Cardaioli, Alessandro Malandrini, Paola Da Pozzo, Antonio Federico, Federica Invernizzi, Gianna Berti, Gian Nicola Gallus, Carmen Gaudiano, Massimo Zeviani

Publikováno v: European Journal of Human Genetics. 17:1092-1096

We present a patient with ataxia, retinitis pigmentosa, dysarthria, neurosensorial deafness, nystagmus and leukoencephalopathy. A novel heteroplasmic G to A transition at nucleotide 15 975 was found, affecting the T arm of the mitochondrial (mt) tRNA

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70bce4cd067ebe10e80e692f3d413326
https://doi.org/10.1038/ejhg.2009.12

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Modulation of nurr1 gene expression in mesencephalic dopaminergic neurones

Autor: Umberto di Porzio, Carla Perrone-Capano, Luca Colucci-D'Amato, Floriana Volpicelli, Paola Da Pozzo

Publikováno v: Journal of Neurochemistry. 88:1283-1294

The transcription factor/nuclear receptor Nurr1 is essential for the differentiation of midbrain dopaminergic neurones. Here we demonstrate that, during the ontogeny of rat ventral mesencephalon, nurr1 gene expression is developmentally regulated and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a20f47ecab58e10d1773e26c5107b328
https://doi.org/10.1046/j.1471-4159.2003.02254.x

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