Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Giuseppina Andreotti"'
Autor:
Maria Monticelli, Tania D’Onofrio, Jaak Jaeken, Eva Morava, Giuseppina Andreotti, Maria Vittoria Cubellis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but
Externí odkaz:
https://doaj.org/article/cbbdc35e54714ea29f97c6f2b8dd8639
Autor:
Bruno Hay Mele, Federica Rossetti, Maria Vittoria Cubellis, Maria Monticelli, Giuseppina Andreotti
Publikováno v:
Genes, Vol 15, Iss 3, p 290 (2024)
Rare diseases, or orphan diseases, are defined as diseases affecting a small number of people compared to the general population. Among these, we find lysosomal storage disorders (LSDs), a cluster of rare metabolic diseases characterized by enzyme mu
Externí odkaz:
https://doaj.org/article/79ae68812d3749b9bc3a4e41d9bb9123
Autor:
Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli, Joy W Norris, Richard Steet, Ethan O Perlstein, Giuseppina Andreotti, Gregory I Lang
Publikováno v:
eLife, Vol 11 (2022)
The most common cause of human congenital disorders of glycosylation (CDG) are mutations in the phosphomannomutase gene PMM2, which affect protein N-linked glycosylation. The yeast gene SEC53 encodes a homolog of human PMM2. We evolved 384 population
Externí odkaz:
https://doaj.org/article/12fb21d1e1c5435787fcfc54b0ca4d30
Autor:
Ilaria Iacobucci, Bruno Hay Mele, Flora Cozzolino, Vittoria Monaco, Chiara Cimmaruta, Maria Monti, Giuseppina Andreotti, Maria Monticelli
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4548 (2023)
Enzyme replacement therapy is the only therapeutic option for Fabry patients with completely absent AGAL activity. However, the treatment has side effects, is costly, and requires conspicuous amounts of recombinant human protein (rh-AGAL). Thus, its
Externí odkaz:
https://doaj.org/article/dc23ab0cb76a433b8e5f3a91ec1facb7
Autor:
Maria Monticelli, Bruno Hay Mele, Mariateresa Allocca, Ludovica Liguori, Jan Lukas, Maria Chiara Monti, Elva Morretta, Maria Vittoria Cubellis, Giuseppina Andreotti
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1095 (2023)
Fabry disease is a lysosomal storage disease caused by mutations in the GLA gene that encodes alpha-galactosidase (AGAL). The disease causes abnormal globotriaosylceramide (Gb3) storage in the lysosomes. Variants responsible for the genotypic spectru
Externí odkaz:
https://doaj.org/article/40fe0e7ce5b742549d2154aa65402d35
Autor:
Sandra Brasil, Mariateresa Allocca, Salvador C. M. Magrinho, Inês Santos, Madalena Raposo, Rita Francisco, Carlota Pascoal, Tiago Martins, Paula A. Videira, Florbela Pereira, Giuseppina Andreotti, Jaak Jaeken, Kristin A. Kantautas, Ethan O. Perlstein, Vanessa dos Reis Ferreira
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 15, p 8725 (2022)
Advances in research have boosted therapy development for congenital disorders of glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid glycosylation and glycosylphosphatidylinositol anchor biosynthesis. The (re)use of kn
Externí odkaz:
https://doaj.org/article/704e22d5d0a1449cb15738d3275d4692
Autor:
Federico Furlan, Gabriele Eden, Marco Archinti, Ralitsa Arnaudova, Giuseppina Andreotti, Valentina Citro, Maria Vittoria Cubellis, Andrea Motta, Bernard Degryse
Publikováno v:
Data in Brief, Vol 22, Iss , Pp 903-908 (2019)
The data presented in this article are connected to our research article entitled “D2A-Ala peptide derived from the urokinase receptor exerts anti-tumoural effects in vitro and in vivo” (Furlan et al., 2018). These data further extend our underst
Externí odkaz:
https://doaj.org/article/be3c2b1bf8374ae6b0698de944e9783e
Autor:
Maria Monticelli, Ludovica Liguori, Mariateresa Allocca, Andrea Bosso, Giuseppina Andreotti, Jan Lukas, Maria Chiara Monti, Elva Morretta, Maria Vittoria Cubellis, Bruno Hay Mele
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 9, p 5105 (2022)
Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations can benefit from oral therapy with a pharmacological chaperone. The drug re
Externí odkaz:
https://doaj.org/article/eac808403b134c6f85ea6677919c6d4e
Autor:
Chiara Cimmaruta, Valentina Citro, Giuseppina Andreotti, Ludovica Liguori, Maria Vittoria Cubellis, Bruno Hay Mele
Publikováno v:
BMC Bioinformatics, Vol 19, Iss S15, Pp 39-46 (2018)
Abstract Background Severity gradation of missense mutations is a big challenge for exome annotation. Predictors of deleteriousness that are most frequently used to filter variants found by next generation sequencing, produce qualitative predictions,
Externí odkaz:
https://doaj.org/article/cf7aa86ffc894da5afe73be8e7f0bf20
Autor:
Maria Monticelli, Bruno Hay Mele, Elisa Benetti, Chiara Fallerini, Margherita Baldassarri, Simone Furini, Elisa Frullanti, Francesca Mari, GEN-COVID Multicenter Study, Giuseppina Andreotti, Maria Vittoria Cubellis, Alessandra Renieri
Publikováno v:
Genes, Vol 12, Iss 4, p 596 (2021)
The protease encoded by the TMPRSS2 gene facilitates viral infections and has been implicated in the pathogenesis of SARS-CoV-2. We analyzed the TMPRSS2 sequence and correlated the protein variants with the clinical features of a cohort of 1177 patie
Externí odkaz:
https://doaj.org/article/e046e2d473274b3cb6440bb8e3b8e6f7