Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Maria Vittoria, Cubellis"'
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:
Lidia Larizza, Maria Vittoria Cubellis
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 10, p 9064 (2023)
Rare Diseases (RD) do not have an exact definition since local authorities define the criteria in different ways, from fewer than 5 people in 10,000, according to the European Union, to the standard world average of 40 cases per 100,000 people [...]
Externí odkaz:
https://doaj.org/article/0839cf8ff1ae43c1a87cc6c4ce928388
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:
Ludovica Liguori, Maria Monticelli, Mariateresa Allocca, Maria Vittoria Cubellis, Bruno Hay Mele
Publikováno v:
BMC Bioinformatics, Vol 21, Iss S10, Pp 1-15 (2020)
Abstract Background Bioinformatics has pervaded all fields of biology and has become an indispensable tool for almost all research projects. Although teaching bioinformatics has been incorporated in all traditional life science curricula, practical h
Externí odkaz:
https://doaj.org/article/a5117604beca41bcbd3524fe33bab113
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:
Supansa Pantoom, Larissa Hules, Christopher Schöll, Andranik Petrosyan, Maria Monticelli, Jola Pospech, Maria Vittoria Cubellis, Andreas Hermann, Jan Lukas
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 7, p 3536 (2022)
Ambroxol (ABX) is a mucolytic agent used for the treatment of respiratory diseases. Bioactivity has been demonstrated as an enhancement effect on lysosomal acid β-glucosidase (β-Glu) activity in Gaucher disease (GD). The positive effects observed h
Externí odkaz:
https://doaj.org/article/94ce2337a20946c8bca2fd7c6e9956b2
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