Citro V - Search Results

1

Cimmaruta C, Citro V, Andreotti G, Liguori L, Cubellis MV, Hay Mele B. Cimmaruta C, et al. Among authors: citro v. BMC Bioinformatics. 2018 Nov 30;19(Suppl 15):433. doi: 10.1186/s12859-018-2416-7. BMC Bioinformatics. 2018. PMID: 30497360 Free PMC article.

2

A thermodynamic assay to test pharmacological chaperones for Fabry disease.

Andreotti G, Citro V, Correra A, Cubellis MV. Andreotti G, et al. Among authors: citro v. Biochim Biophys Acta. 2014 Mar;1840(3):1214-24. doi: 10.1016/j.bbagen.2013.12.018. Epub 2013 Dec 21. Biochim Biophys Acta. 2014. PMID: 24361605 Free PMC article.

3

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.

Citro V, Peña-García J, den-Haan H, Pérez-Sánchez H, Del Prete R, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G. Citro V, et al. PLoS One. 2016 Oct 27;11(10):e0165463. doi: 10.1371/journal.pone.0165463. eCollection 2016. PLoS One. 2016. PMID: 27788225 Free PMC article.

4

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.

Citro V, Cammisa M, Liguori L, Cimmaruta C, Lukas J, Cubellis MV, Andreotti G. Citro V, et al. Int J Mol Sci. 2016 Dec 1;17(12):2010. doi: 10.3390/ijms17122010. Int J Mol Sci. 2016. PMID: 27916943 Free PMC article. Review.

5

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: citro v. Int J Mol Sci. 2017 Sep 24;18(10):2049. doi: 10.3390/ijms18102049. Int J Mol Sci. 2017. PMID: 28946642 Free PMC article.

6

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Andreotti G, Citro V, De Crescenzo A, Orlando P, Cammisa M, Correra A, Cubellis MV. Andreotti G, et al. Among authors: citro v. Orphanet J Rare Dis. 2011 Oct 17;6:66. doi: 10.1186/1750-1172-6-66. Orphanet J Rare Dis. 2011. PMID: 22004918 Free PMC article.

7

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG.

Citro V, Cimmaruta C, Liguori L, Viscido G, Cubellis MV, Andreotti G. Citro V, et al. PLoS One. 2017 Dec 19;12(12):e0189629. doi: 10.1371/journal.pone.0189629. eCollection 2017. PLoS One. 2017. PMID: 29261720 Free PMC article.

8

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. Int J Mol Sci. 2018 Jul 30;19(8):2218. doi: 10.3390/ijms19082218. Int J Mol Sci. 2018. PMID: 30061496 Free PMC article.

9

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.

Seemann S, Ernst M, Cimmaruta C, Struckmann S, Cozma C, Koczan D, Knospe AM, Haake LR, Citro V, Bräuer AU, Andreotti G, Cubellis MV, Fuellen G, Hermann A, Giese AK, Rolfs A, Lukas J. Seemann S, et al. Among authors: citro v. Biochem J. 2020 Jan 31;477(2):359-380. doi: 10.1042/BCJ20190513. Biochem J. 2020. PMID: 31899485 Free PMC article.

10

Drug repositioning can accelerate discovery of pharmacological chaperones.

Hay Mele B, Citro V, Andreotti G, Cubellis MV. Hay Mele B, et al. Among authors: citro v. Orphanet J Rare Dis. 2015 May 7;10:55. doi: 10.1186/s13023-015-0273-2. Orphanet J Rare Dis. 2015. PMID: 25947946 Free PMC article.

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