Cubellis MV - Search Results

1

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

Lukas J, Cimmaruta C, Liguori L, Pantoom S, Iwanov K, Petters J, Hund C, Bunschkowski M, Hermann A, Cubellis MV, Rolfs A. Lukas J, et al. Among authors: cubellis mv. Int J Mol Sci. 2020 Jan 31;21(3):956. doi: 10.3390/ijms21030956. Int J Mol Sci. 2020. PMID: 32023956 Free PMC article.

2

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: cubellis mv. 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.

3

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones.

Cammisa M, Correra A, Andreotti G, Cubellis MV. Cammisa M, et al. Among authors: cubellis mv. Orphanet J Rare Dis. 2013 Jul 24;8:111. doi: 10.1186/1750-1172-8-111. Orphanet J Rare Dis. 2013. PMID: 23883437 Free PMC article.

4

A thermodynamic assay to test pharmacological chaperones for Fabry disease.

Andreotti G, Citro V, Correra A, Cubellis MV. Andreotti G, et al. Among authors: cubellis mv. 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.

5

Looking for protein stabilizing drugs with thermal shift assay.

Andreotti G, Monticelli M, Cubellis MV. Andreotti G, et al. Among authors: cubellis mv. 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.

6

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. Among authors: cubellis mv. PLoS One. 2016 Oct 27;11(10):e0165463. doi: 10.1371/journal.pone.0165463. eCollection 2016. PLoS One. 2016. PMID: 27788225 Free PMC article.

7

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. Among authors: cubellis mv. 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.

8

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. Among authors: cubellis mv. PLoS One. 2017 Dec 19;12(12):e0189629. doi: 10.1371/journal.pone.0189629. eCollection 2017. PLoS One. 2017. PMID: 29261720 Free PMC article.

9

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.

Lukas J, Knospe AM, Seemann S, Citro V, Cubellis MV, Rolfs A. Lukas J, et al. Among authors: cubellis mv. J Vis Exp. 2017 Dec 20;(130):56550. doi: 10.3791/56550. J Vis Exp. 2017. PMID: 29286471 Free PMC article.

10

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

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