Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Paola Cattelan"'
Autor:
Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 14-17 (2017)
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A>T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather th
Externí odkaz:
https://doaj.org/article/385a1b3965b14c4187fbedc8abbd99ae
Autor:
Massimo Mezzavilla, Massimiliano Cocca, Pierpaolo Maisano Delser, Margherita Francescatto, Paola de Gemmis, Daniela Segat, Paola Cattelan, Marina Da Meda, Luigi Magnini, Cinzia Bettineschi, Armando de Guio, Paolo Gasparini
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65080c581d8db2ad6cc8a926073a3650
https://hdl.handle.net/10278/5020155
https://hdl.handle.net/10278/5020155
Autor:
Marco Rastrelli, Uros Hladnik, Annalisa Tosi, Paola Cattelan, Carlo Riccardo Rossi, Maria Vittoria Enzo, Daniela Segat
Publikováno v:
Histochemistry and Cell Biology. 151:145-160
Desmoid-like fibromatosis (DF) is a rare myofibroblastic benign tumor, often associated with local and repeated injuries, spontaneous regression and stabilization of disease progression suggesting the involvement of altered Wnt/β-catenin signaling a
Autor:
Uros Hladnik, Federico Verde, Nicola Ticozzi, Chiara Castronovo, Paola Cattelan, Vincenzo Silani, Luca Campana, Paolo Banfi, Maria Teresa Bonati, Luca Maderna, Sergio Papa, Claudia Colombrita
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 14-17 (2017)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A > T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather
Autor:
Spiridione Garbisa, Lucia Biasutto, Cristina Paradisi, Antonio Toninello, Ester Marotta, Paola Cattelan, Andrea Mattarei, Mario Zoratti, Nicola Sassi
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Bioenergetics. 1797(2):189-196
Mitochondria-targeted polyphenols are being developed with the intent to intervene on the levels of reactive oxygen species (ROS) in mitochondria. Polyphenols being more than just anti-oxidants, the interaction of these derivatives with the organelle
Publikováno v:
Biochemical and biophysical research communications. 441(1)
Lesch-Nyhan disease (LND) is a severe and incurable X-linked genetic syndrome caused by the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), resulting in severe alterations of central nervous system, hyperuricemia and subsequent i