Jan Lukas Albrecht-Kossel-Institute University Rostock Medical Center Biography Publications Institution JoVE Articles Jan Lukas has not added a biography. If you are Jan Lukas and would like to personalize this page please email our Author Liaison for assistance. Publications Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease International Journal of Molecular Sciences. Oct, 2017 | Pubmed ID: 29053611 Fluorescent Probes for Selective Protein Labeling in Lysosomes: a Case of α-galactosidase A FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology. Dec, 2017 | Pubmed ID: 28821638 The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations International Journal of Molecular Sciences. Dec, 2016 | Pubmed ID: 27916943 A Novel, Highly Sensitive and Specific Biomarker for Niemann-Pick Type C1 Disease Orphanet Journal of Rare Diseases. Jun, 2015 | Pubmed ID: 26082315 Defects in the Retina of Niemann-pick Type C 1 Mutant Mice BMC Neuroscience. Nov, 2014 | Pubmed ID: 25472750 In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease Jan Lukas1, Anne-Marie Knospe1, Susanne Seemann1, Valentina Citro2, Maria V. Cubellis2, Arndt Rolfs1,3 1Albrecht-Kossel-Institute, University Rostock Medical Center, 2Department of Biology, University Federico II, 3Centogene AG JoVE 56550 Medicine
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease Jan Lukas1, Anne-Marie Knospe1, Susanne Seemann1, Valentina Citro2, Maria V. Cubellis2, Arndt Rolfs1,3 1Albrecht-Kossel-Institute, University Rostock Medical Center, 2Department of Biology, University Federico II, 3Centogene AG JoVE 56550 Medicine