Jan Lukas - Search Results

Year	Number of Results
2003	1
2006	1
2007	1
2009	1
2010	1
2011	6
2012	3
2013	3
2014	6
2015	4
2016	6
2017	6
2018	1
2019	4
2020	10
2021	2
2022	4
2023	4
2024	0

1

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.

Lukas J, Giese AK, Markoff A, Grittner U, Kolodny E, Mascher H, Lackner KJ, Meyer W, Wree P, Saviouk V, Rolfs A. Lukas J, et al. PLoS Genet. 2013;9(8):e1003632. doi: 10.1371/journal.pgen.1003632. Epub 2013 Aug 1. PLoS Genet. 2013. PMID: 23935525 Free PMC article.

2

State-of-the-Art Molecular Genetics and Genomics in Germany.

Lukas J. Lukas J. Int J Mol Sci. 2023 Sep 14;24(18):14096. doi: 10.3390/ijms241814096. Int J Mol Sci. 2023. PMID: 37762398 Free PMC article.

3

A molecular genetics view on Mucopolysaccharidosis Type II.

Verma S, Pantoom S, Petters J, Pandey AK, Hermann A, Lukas J. Verma S, et al. Among authors: lukas j. Mutat Res Rev Mutat Res. 2021 Jul-Dec;788:108392. doi: 10.1016/j.mrrev.2021.108392. Epub 2021 Aug 8. Mutat Res Rev Mutat Res. 2021. PMID: 34893157 Review.

4

Mitochondria-Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons.

Grossmann D, Malburg N, Glaß H, Weeren V, Sondermann V, Pfeiffer JF, Petters J, Lukas J, Seibler P, Klein C, Grünewald A, Hermann A. Grossmann D, et al. Among authors: lukas j. Mov Disord. 2023 Oct;38(10):1822-1836. doi: 10.1002/mds.29525. Epub 2023 Jul 14. Mov Disord. 2023. PMID: 37449534

5

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.

6

Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas.

Lukas J, Pospech J, Oppermann C, Hund C, Iwanov K, Pantoom S, Petters J, Frech M, Seemann S, Thiel FG, Modenbach JM, Bolsmann R, de Freitas Chama L, Kraatz F, El-Hage F, Gronbach M, Klein A, Müller R, Salloch S, Weiss FU, Simon P, Wagh P, Klemenz A, Krüger E, Mayerle J, Delcea M, Kragl U, Beller M, Rolfs A, Lerch MM, Sendler M. Lukas J, et al. Adv Med Sci. 2019 Sep;64(2):315-323. doi: 10.1016/j.advms.2019.03.004. Epub 2019 Apr 9. Adv Med Sci. 2019. PMID: 30978662 Review.

7

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

Alfen F, Putscher E, Hecker M, Zettl UK, Hermann A, Lukas J. Alfen F, et al. Among authors: lukas j. Int J Mol Sci. 2022 Dec 3;23(23):15261. doi: 10.3390/ijms232315261. Int J Mol Sci. 2022. PMID: 36499585 Free PMC article.

8

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.

9

Generation of the Niemann-Pick type C2 patient-derived iPSC line AKOSi001-A.

Völkner C, Peter F, Liedtke M, Krohn S, Lindner I, Murua Escobar H, Cimmaruta C, Lukas J, Hermann A, Frech MJ. Völkner C, et al. Among authors: lukas j. Stem Cell Res. 2019 Dec;41:101606. doi: 10.1016/j.scr.2019.101606. Epub 2019 Oct 15. Stem Cell Res. 2019. PMID: 31669975 Free 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: 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.

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