Maria Vittoria Cubellis
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Explore the profile of Maria Vittoria Cubellis including associated specialties, affiliations and a list of published articles.
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61
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1077
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Recent Articles
1.
Anvar Z, Jafarpour F, Jahromi B, Riccio A, Nasr-Esfahani M, Cubellis M
Mol Genet Genomic Med
. 2025 Jan;
13(1):e70051.
PMID: 39763182
Background: The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%-10% of biparental hydatidiform moles (BiHM), and a few maternal deletions...
2.
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...
3.
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...
4.
Giaccari C, Cecere F, Argenziano L, Pagano A, Galvao A, Acampora D, et al.
Genes Dev
. 2024 Mar;
38(3-4):131-150.
PMID: 38453481
Maternal inactivation of genes encoding components of the subcortical maternal complex (SCMC) and its associated member, PADI6, generally results in early embryo lethality. In humans, SCMC gene variants were found...
5.
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...
6.
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...
7.
Larizza L, Cubellis M
Int J Mol Sci
. 2023 May;
24(10).
PMID: 37240412
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,...
8.
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...
9.
Pignata L, Cecere F, Verma A, Mele B, Monticelli M, Acurzio B, et al.
Clin Epigenetics
. 2022 Jun;
14(1):71.
PMID: 35643636
Background: Beckwith-Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the imprinted gene clusters located at 11p15.5 and 20q13.32, respectively. In both of...
10.
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...