Monticelli M - Search Results

1

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations.

Liguori L, Monticelli M, Allocca M, Hay Mele B, Lukas J, Cubellis MV, Andreotti G. Liguori L, et al. Among authors: monticelli m. Int J Mol Sci. 2020 Jan 13;21(2):489. doi: 10.3390/ijms21020489. Int J Mol Sci. 2020. PMID: 31940970 Free PMC article. Review.

2

Looking for protein stabilizing drugs with thermal shift assay.

Andreotti G, Monticelli M, Cubellis MV. Andreotti G, et al. Among authors: monticelli m. Drug Test Anal. 2015 Sep;7(9):831-4. doi: 10.1002/dta.1798. Epub 2015 Apr 5. Drug Test Anal. 2015. PMID: 25845367 Free PMC article.

3

E-Learning for Rare Diseases: An Example Using Fabry Disease.

Cimmaruta C, Liguori L, Monticelli M, Andreotti G, Citro V. Cimmaruta C, et al. Among authors: monticelli m. Int J Mol Sci. 2017 Sep 24;18(10):2049. doi: 10.3390/ijms18102049. Int J Mol Sci. 2017. PMID: 28946642 Free PMC article.

4

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.

Citro V, Cimmaruta C, Monticelli M, Riccio G, Hay Mele B, Cubellis MV, Andreotti G. Citro V, et al. Among authors: monticelli m. Int J Mol Sci. 2018 Jul 30;19(8):2218. doi: 10.3390/ijms19082218. Int J Mol Sci. 2018. PMID: 30061496 Free PMC article.

5

β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG.

Monticelli M, Liguori L, Allocca M, Andreotti G, Cubellis MV. Monticelli M, et al. Int J Mol Sci. 2019 Aug 26;20(17):4164. doi: 10.3390/ijms20174164. Int J Mol Sci. 2019. PMID: 31454904 Free PMC article.

6

Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach.

Liguori L, Monticelli M, Allocca M, Cubellis MV, Hay Mele B. Liguori L, et al. Among authors: monticelli m. BMC Bioinformatics. 2020 Aug 21;21(Suppl 10):348. doi: 10.1186/s12859-020-03560-z. BMC Bioinformatics. 2020. PMID: 32838733 Free PMC article.

7

Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.

Cubellis MV, Pignata L, Verma A, Sparago A, Del Prete R, Monticelli M, Calzari L, Antona V, Melis D, Tenconi R, Russo S, Cerrato F, Riccio A. Cubellis MV, et al. Among authors: monticelli m. Clin Epigenetics. 2020 Sep 14;12(1):139. doi: 10.1186/s13148-020-00925-2. Clin Epigenetics. 2020. PMID: 32928291 Free PMC article.

8

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

Monticelli M, Mele BH, Andreotti G, Cubellis MV, Riccio G. Monticelli M, et al. Eur J Med Genet. 2021 Jun;64(6):104227. doi: 10.1016/j.ejmg.2021.104227. Epub 2021 Apr 16. Eur J Med Genet. 2021. PMID: 33872774 Free PMC article. Review.

9

Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women.

Monticelli M, Hay Mele B, Benetti E, Fallerini C, Baldassarri M, Furini S, Frullanti E, Mari F, Andreotti G, Cubellis MV, Renieri A; Gen-Covid Multicenter Study. Monticelli M, et al. Genes (Basel). 2021 Apr 19;12(4):596. doi: 10.3390/genes12040596. Genes (Basel). 2021. PMID: 33921689 Free PMC article.

10

Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol.

Pantoom S, Hules L, Schöll C, Petrosyan A, Monticelli M, Pospech J, Cubellis MV, Hermann A, Lukas J. Pantoom S, et al. Among authors: monticelli m. Int J Mol Sci. 2022 Mar 24;23(7):3536. doi: 10.3390/ijms23073536. Int J Mol Sci. 2022. PMID: 35408914 Free PMC article.

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