Lukas J - 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. 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

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

3

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: lukas j. 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.

4

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. J Vis Exp. 2017 Dec 20;(130):56550. doi: 10.3791/56550. J Vis Exp. 2017. PMID: 29286471 Free PMC article.

5

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.

Feng X, Cozma C, Pantoom S, Hund C, Iwanov K, Petters J, Völkner C, Bauer C, Vogel F, Bauer P, Weiss FU, Lerch MM, Knospe AM, Hermann A, Frech MJ, Luo J, Rolfs A, Lukas J. Feng X, et al. Among authors: lukas j. Int J Mol Sci. 2019 Oct 19;20(20):5185. doi: 10.3390/ijms20205185. Int J Mol Sci. 2019. PMID: 31635081 Free PMC article.

6

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: lukas j. Biochem J. 2020 Jan 31;477(2):359-380. doi: 10.1042/BCJ20190513. Biochem J. 2020. PMID: 31899485 Free PMC article.

7

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: lukas j. 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.

8

Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat.

Braunstein H, Papazian M, Maor G, Lukas J, Rolfs A, Horowitz M. Braunstein H, et al. Among authors: lukas j. Int J Mol Sci. 2020 Oct 7;21(19):7397. doi: 10.3390/ijms21197397. Int J Mol Sci. 2020. PMID: 33036426 Free PMC article.

9

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: lukas j. Int J Mol Sci. 2022 Mar 24;23(7):3536. doi: 10.3390/ijms23073536. Int J Mol Sci. 2022. PMID: 35408914 Free PMC article.

10

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones.

Monticelli M, Liguori L, Allocca M, Bosso A, Andreotti G, Lukas J, Monti MC, Morretta E, Cubellis MV, Hay Mele B. Monticelli M, et al. Among authors: lukas j. Int J Mol Sci. 2022 May 4;23(9):5105. doi: 10.3390/ijms23095105. Int J Mol Sci. 2022. PMID: 35563496 Free PMC article.

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