Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Miriam De Sarlo"'
Autor:
Ambra Del Grosso, Sara Carpi, Miriam De Sarlo, Luca Scaccini, Laura Colagiorgio, Husam B.R. Alabed, Lucia Angella, Roberto Maria Pellegrino, Ilaria Tonazzini, Carla Emiliani, Marco Cecchini
Publikováno v:
Biomedicine & Pharmacotherapy, Vol 173, Iss , Pp 116351- (2024)
Krabbe disease (KD) is a rare disorder arising from the deficiency of the lysosomal enzyme galactosylceramidase (GALC), leading to the accumulation of the cytotoxic metabolite psychosine (PSY) in the nervous system. This accumulation triggers demyeli
Externí odkaz:
https://doaj.org/article/b979d3d6cba14a10b93911bc5b1870c6
Autor:
Husam B. R. Alabed, Ambra Del Grosso, Valeria Bellani, Lorena Urbanelli, Sara Carpi, Miriam De Sarlo, Lorenzo Bertocci, Laura Colagiorgio, Sandra Buratta, Luca Scaccini, Dorotea Frongia Mancini, Ilaria Tonazzini, Marco Cecchini, Carla Emiliani, Roberto Maria Pellegrino
Publikováno v:
Biomolecules, Vol 13, Iss 10, p 1562 (2023)
Krabbe disease is a rare neurodegenerative disease with an autosomal recessive character caused by a mutation in the GALC gene. The mutation leads to an accumulation of psychosine and a subsequent degeneration of oligodendrocytes and Schwann cells. P
Externí odkaz:
https://doaj.org/article/36d3cc6d1b5143c2a2461e293d6b58fe
Autor:
Sara Carpi, Ambra Del Grosso, Miriam De Sarlo, Laura Colagiorgio, Luca Scaccini, Ilaria Tonazzini, Gabriele Parlanti, Marco Cecchini
Publikováno v:
Biomedicines, Vol 10, Iss 12, p 3146 (2022)
Twitcher (Twi) is a neurological Krabbe disease (KD, or globoid cell leukodystrophy) spontaneous mutant line in mice. The genome of the Twi mouse presents a single nucleotide polymorphism (SNP), leading to an enzymatically inactive galactosylceramida
Externí odkaz:
https://doaj.org/article/c297bc38657a4eefa8ed2be0829ed989
Autor:
Valentina Naef, Miriam De Sarlo, Giovanna Testa, Debora Corsinovi, Roberta Azzarelli, Ugo Borello, Michela Ori
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 8 (2020)
Mex3A is an RNA binding protein that can also act as an E3 ubiquitin ligase to control gene expression at the post-transcriptional level. In intestinal adult stem cells, MEX3A is required for cell self-renewal and when overexpressed, MEX3A can contri
Externí odkaz:
https://doaj.org/article/ff820474e3b045e6a051d597943557ec
Background: Zebrafish (Danio rerio) is a vertebrate that has become a popular alternative model for the cellular and molecular study of human tumors and for drug testing and validating approaches. Notably, zebrafish embryos, thanks to their accessibi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::483fe37946c58770d1522ad63019d440
https://hdl.handle.net/11568/1100592
https://hdl.handle.net/11568/1100592
Autor:
Diana Corallo, SSanja Aveic, Viktoryia Sidarovich, Michela Ori, Gian Paolo Tonini, Miriam De Sarlo, Michael Donadon, Simona Cocchi, Martin Distel, Chiara Frasson, Marcella Pantile, Carlo Zanon, Giuseppe Basso, Alessandro Quattrone, Simona Candiani
Publikováno v:
Cell Death Differ
The RNA-binding protein LIN28B regulates developmental timing and determines stem cell identity by suppressing the let-7 family of microRNAs. Postembryonic reactivation of LIN28B impairs cell commitment to differentiation, prompting their transformat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7af6c0847fde86e15f409c1fa041a74
https://hdl.handle.net/11567/980837
https://hdl.handle.net/11567/980837
Autor:
Matteo Bozzo, Isabella Ceccherini, Miriam De Sarlo, Michela Ori, Simona Candiani, Silvia Carestiato, Valentina Obino, Daniele Bani, Andreas F. Mack, Mario Pestarino, Francesca Rosamilia, Tiziana Bachetti
Publikováno v:
Genes
Volume 11
Issue 12
Genes, Vol 11, Iss 1490, p 1490 (2020)
Volume 11
Issue 12
Genes, Vol 11, Iss 1490, p 1490 (2020)
Alexander disease (AxD) is a rare astrogliopathy caused by heterozygous mutations, either inherited or arising de novo, on the glial fibrillary acid protein (GFAP) gene (17q21). Mutations in the GFAP gene make the protein prone to forming aggregates
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74c4d173f43bd344cb49d468aeed386e
https://doi.org/10.3390/genes11121490
https://doi.org/10.3390/genes11121490