Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Enrico S. Bertini"'
Autor:
Sara Petrillo, Jessica D’Amico, Francesco Nicita, Caterina Torda, Gessica Vasco, Enrico S. Bertini, Marco Cappa, Fiorella Piemonte
Publikováno v:
Antioxidants, Vol 11, Iss 11, p 2125 (2022)
Redox imbalance, mitochondrial dysfunction, and inflammation play a major role in the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), an inherited neurodegenerative disease caused by mutations in the ABCD1 gene, encoding the protein respons
Externí odkaz:
https://doaj.org/article/ee5a541d24ca41439f85cc48a760ba70
Autor:
Piergiorgio La Rosa, Sara Petrillo, Riccardo Turchi, Francesco Berardinelli, Tommaso Schirinzi, Gessica Vasco, Daniele Lettieri-Barbato, Maria Teresa Fiorenza, Enrico S. Bertini, Katia Aquilano, Fiorella Piemonte
Publikováno v:
Redox Biology, Vol 38, Iss , Pp 101791- (2021)
Ferroptosis is an iron-dependent cell death caused by impaired glutathione metabolism, lipid peroxidation and mitochondrial failure. Emerging evidences report a role for ferroptosis in Friedreich's Ataxia (FRDA), a neurodegenerative disease caused by
Externí odkaz:
https://doaj.org/article/28f20bfbfd1a4a29b564b48b2de5ac09
Autor:
Piergiorgio La Rosa, Marta Russo, Jessica D’Amico, Sara Petrillo, Katia Aquilano, Daniele Lettieri-Barbato, Riccardo Turchi, Enrico S. Bertini, Fiorella Piemonte
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 13 (2019)
Frataxin deficiency is the pathogenic cause of Friedreich’s Ataxia, an autosomal recessive disease characterized by the increase of oxidative stress and production of free radicals in the cell. Although the onset of the pathology occurs in the seco
Externí odkaz:
https://doaj.org/article/79d80e1d975545b793836397bec7c5f5
Autor:
Marina Macchiaiolo, Filippo M. Panfili, Davide Vecchio, Fabiana Cortellessa, Michaela V. Gonfiantini, Paola S. Buonuomo, Andrea Pietrobattista, Paola Francalanci, Lorena Travaglini, Enrico S. Bertini, Maya El Hachem, Andrea Bartuli
Publikováno v:
American Journal of Medical Genetics Part A. 188:2920-2931
POIKiloderma, tendon contractures, myopathy, pulmonary fibrosis is a congenital multisystem disorder due to FAM111B dominant variants. We present a literature review focusing on the frequency and the impact of hepatic involvement and a case report of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7e6c26da04d9d1b469918c6b560154
https://doi.org/10.1002/ajmg.a.62906
https://doi.org/10.1002/ajmg.a.62906
Autor:
Andrea Delle Vedove, Janani Natarajan, Ginevra Zanni, Matthias Eckenweiler, Anixa Muiños-Bühl, Markus Storbeck, Jordina Guillén Boixet, Sabina Barresi, Simone Pizzi, Irmgard Hölker, Friederike Körber, Titus M. Franzmann, Enrico S. Bertini, Janbernd Kirschner, Simon Alberti, Marco Tartaglia, Brunhilde Wirth
Publikováno v:
Cellular and Molecular Life Sciences
CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Here we describe two unrelated children, who developed early-onset ataxia, dysarth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b67874dab10c41ab0526b164957db96f
https://doi.org/10.21203/rs.3.rs-1838998/v1
https://doi.org/10.21203/rs.3.rs-1838998/v1
Autor:
Andrea, Delle Vedove, Janani, Natarajan, Ginevra, Zanni, Matthias, Eckenweiler, Anixa, Muiños-Bühl, Markus, Storbeck, Jordina, Guillén Boixet, Sabina, Barresi, Simone, Pizzi, Irmgard, Hölker, Friederike, Körber, Titus M, Franzmann, Enrico S, Bertini, Janbernd, Kirschner, Simon, Alberti, Marco, Tartaglia, Brunhilde, Wirth
Publikováno v:
Cellular and molecular life sciences : CMLS. 79(10)
CAPRIN1 is a ubiquitously expressed protein, abundant in the brain, where it regulates the transport and translation of mRNAs of genes involved in synaptic plasticity. Here we describe two unrelated children, who developed early-onset ataxia, dysarth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fde2003976f29e9d8503ae63f764e036
https://pubmed.ncbi.nlm.nih.gov/36136249
https://pubmed.ncbi.nlm.nih.gov/36136249
Autor:
Michele, Callea, Fabiana, Fattori, Enrico S, Bertini, Izzet, Yavuz, Emanuele, Bellacchio, Andrea, Avendaño, Dianora, Araque, María A, Lacruz-Rengel, Gloria, Da Silva, Francisco, Cammarata-Scalisi
Publikováno v:
Archivos argentinos de pediatria. 115(6)
Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is Estudio cl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a236672ae43b84ed7aa66e9ffd03f3c
https://pubmed.ncbi.nlm.nih.gov/29087131
https://pubmed.ncbi.nlm.nih.gov/29087131
Autor:
Ching H, Wang, Richard S, Finkel, Enrico S, Bertini, Mary, Schroth, Anita, Simonds, Brenda, Wong, Annie, Aloysius, Leslie, Morrison, Marion, Main, Thomas O, Crawford, Anthony, Trela
Publikováno v:
Journal of child neurology. 22(8)
Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::796f18d66395eab8c1221cebcf8597dd
https://pubmed.ncbi.nlm.nih.gov/17761659
https://pubmed.ncbi.nlm.nih.gov/17761659