Giuseppina Andreotti
Overview
Explore the profile of Giuseppina Andreotti including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
51
Citations
622
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Mele B, Rossetti F, Cubellis M, Monticelli M, Andreotti G
Genes (Basel)
. 2024 Mar;
15(3).
PMID: 38540351
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...
2.
Monticelli M, Mele B, Wright D, Guerriero S, Andreotti G, Cubellis M
Biochimie
. 2024 Mar;
222:123-131.
PMID: 38458414
PMM2-CDG, a disease caused by mutations in phosphomannomutase-2, is the most common congenital disorder of glycosylation. Yet, it still lacks a cure. Targeting phosphomannomutase-2 with pharmacological chaperones or inhibiting the...
3.
Monticelli M, Wright D, Cubellis M, Andreotti G
Biochim Biophys Acta Gen Subj
. 2023 Dec;
1868(2):130526.
PMID: 38049040
Introduction: The study of protein stability is crucial to biochemistry and relies on different methodologies. Recently, the Cellular Thermal Shift Assay has been introduced to study protein stability in whole...
4.
Monticelli M, DOnofrio T, Jaeken J, Morava E, Andreotti G, Cubellis M
Orphanet J Rare Dis
. 2023 Aug;
18(1):247.
PMID: 37644541
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...
5.
Iacobucci I, Mele B, Cozzolino F, Monaco V, Cimmaruta C, Monti M, et al.
Int J Mol Sci
. 2023 Mar;
24(5).
PMID: 36901983
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...
6.
Monticelli M, Mele B, Allocca M, Liguori L, Lukas J, Monti M, et al.
Int J Mol Sci
. 2023 Jan;
24(2).
PMID: 36674610
Fabry disease is a lysosomal storage disease caused by mutations in the gene that encodes alpha-galactosidase (AGAL). The disease causes abnormal globotriaosylceramide (Gb3) storage in the lysosomes. Variants responsible for...
7.
Vignogna R, Allocca M, Monticelli M, Norris J, Steet R, Perlstein E, et al.
Elife
. 2022 Oct;
11.
PMID: 36214454
The most common cause of human congenital disorders of glycosylation (CDG) are mutations in the phosphomannomutase gene which affect protein -linked glycosylation. The yeast gene encodes a homolog of human...
8.
Brasil S, Allocca M, Magrinho S, Santos I, Raposo M, Francisco R, et al.
Int J Mol Sci
. 2022 Aug;
23(15).
PMID: 35955863
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...
9.
Monticelli M, Liguori L, Allocca M, Bosso A, Andreotti G, Lukas J, et al.
Int J Mol Sci
. 2022 May;
23(9).
PMID: 35563496
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...
10.
Monticelli M, Mele B, Benetti E, Fallerini C, Baldassarri M, Furini S, et al.
Genes (Basel)
. 2021 Apr;
12(4).
PMID: 33921689
The protease encoded by the gene facilitates viral infections and has been implicated in the pathogenesis of SARS-CoV-2. We analyzed the sequence and correlated the protein variants with the clinical...