Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson–Fabry disease

Autor: Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Salvatore Miceli, Paolo Colomba, Giovanni Duro, Antonino Tuttolomondo

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

Background: Anderson–Fabry disease (AFD) is an X-linked disease that results from reduced activity of the enzyme galactosidase alpha (GLA). When the GLA gene sequence is altered by mutations that alter the normal DNA sequence, variants of the alpha

Externí odkaz: https://doaj.org/article/33ade6485def44aeb5ff52fc177b417a

HPV Infection Affects Human Sperm Functionality by Inhibition of Aquaporin-8

Autor: Giorgia Pellavio, Federica Todaro, Paola Alberizzi, Claudia Scotti, Giulia Gastaldi, Marco Lolicato, Claudia Omes, Laura Caliogna, Rossella E. Nappi, Umberto Laforenza

Publikováno v: Cells, Vol 9, Iss 5, p 1241 (2020)

Human sperm cells express different aquaporins (AQPs), AQP3, 7, 8, 11, which are localized both in the plasma membrane and in intracellular structures. Besides cell volume regulation and end stage of cytoplasm removal during sperm maturation, the rol

Externí odkaz: https://doaj.org/article/7351dafaf5ba46a6b75ec8cba54ae6d9

Mapk activation drives male and female mouse teratocarcinomas from late {PGCs}

Autor: Eugenia, Guida, Tassinari, Valentina, Ambra, Colopi, Federica, Todaro, Valeriana, Cesarini, Benedetto, Jannini, Manuela, Pellegrini, Flavia, Botti, Gabriele, Rossi, Pellegrino, Rossi, Jannini, Emmanuele A., Susanna, Dolci

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3686::4b282f0555baed41f51150d8ade58aab
http://hdl.handle.net/11573/1628648

HPV Infection Affects Human Sperm Functionality by Inhibition of Aquaporin-8

Autor: Umberto Laforenza, Federica Todaro, Rossella E. Nappi, Laura Caliogna, Claudia Omes, Giorgia Pellavio, Marco Lolicato, Giulia Gastaldi, Paola Alberizzi, Claudia Scotti

Publikováno v: Cells
Volume 9
Issue 5
Cells, Vol 9, Iss 1241, p 1241 (2020)

Human sperm cells express different aquaporins (AQPs), AQP3, 7, 8, 11, which are localized both in the plasma membrane and in intracellular structures. Besides cell volume regulation and end stage of cytoplasm removal during sperm maturation, the rol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d56f97e482abeacdf0493f258d835f3

Sempervirine inhibits RNA polymerase I transcription independently from p53 in tumor cells

Autor: Susanna Dolci, Bruno Botta, Pamela Bielli, Deborah Quaglio, Eugenia Guida, Fabiola Moretti, Mattia Mori, Marco Barchi, Francesca Ghirga, Federica Todaro, Cinzia Caggiano, Paola Grimaldi, Emmanuele A. Jannini, Pellegrino Rossi

Publikováno v: Cell Death Discovery 6 (2020). doi:10.1038/s41420-020-00345-4
info:cnr-pdr/source/autori:Caggiano, Cinzia; Guida, Eugenia; Todaro, Federica; Bielli, Pamela; Mori, Mattia; Ghirga, Francesca; Quaglio, Deborah; Botta, Bruno; Moretti, Fabiola; Grimaldi, Paola; Rossi, Pellegrino; Jannini, Emmanuele A.; Barchi, Marco; Dolci, Susanna/titolo:Sempervirine inhibits RNA polymerase I transcription independently from p53 in tumor cells/doi:10.1038%2Fs41420-020-00345-4/rivista:Cell Death Discovery/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume:6
Cell Death Discovery
Cell Death Discovery, Vol 6, Iss 1, Pp 1-15 (2020)

In the search of small molecules that can target MDM2/p53 pathway in testicular germ cell tumors (TGCTs), we identified sempervirine (2,3,4,13-tetrahydro-1H-benz[g]indolo[2,3-a]quinolizin-6-ium), an alkaloid of Gelsemium sempervirens, that has been p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e667e20866f31450db2b3bb2d7347753
http://www.cnr.it/prodotto/i/449477