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Robin H Lachmann. (2009) Substrate-reduction therapy with miglustat for glycosphingolipid storage disorders affecting the brain. Expert Review of Endocrinology & Metabolism 4:3, pages 217-224.
Read now
Read now
Gregory M Pastores & Natalie L Barnett. (2003) Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1. Expert Opinion on Investigational Drugs 12:2, pages 273-281.
Read now
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Michael Beck. (2002) Agalsidase alfa – a preparation for enzyme replacement therapy in Anderson–Fabry disease. Expert Opinion on Investigational Drugs 11:6, pages 851-858.
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Richard JE Armstrong, Meena Jain & Roger A Barker. (2001) Stem cell transplantation as an approach to brain repair. Expert Opinion on Therapeutic Patents 11:10, pages 1563-1582.
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Articles from other publishers (60)
Vahid Mansouri, Ali Reza Tavasoli, Masoud Khodarahmi, Mohammad Sedigh Dakkali, Sara Daneshfar, Mahmoud Reza Ashrafi, Morteza Heidari, Sareh Hosseinpour, Fariborz Sharifianjazi & Maryam Bemanalizadeh. (2023)
Efficacy and safety of miglustat in the treatment of
GM2
gangliosidosis: A systematic review
. European Journal of Neurology 30:9, pages 2919-2945.
Crossref
Crossref
Veronica Antipova, Lisa-Marie Steinhoff, Carsten Holzmann, Arndt Rolfs, Carlos Junior Hempel, Martin Witt & Andreas Wree. (2022) Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches. International Journal of Molecular Sciences 24:1, pages 573.
Crossref
Crossref
Olga Amaral, Ana Duarte, Diogo Ribeiro, Renato Santos & José Bragança. 2022. iPSCs - State of the Science. iPSCs - State of the Science
197
224
.
Arnold E. Stütz, Martin Thonhofer, Patrick Weber, Andreas Wolfsgruber & Tanja M. Wrodnigg. (2021)
Pharmacological Chaperones for β‐Galactosidase Related to G
M1
‐Gangliosidosis and Morquio B: Recent Advances
. The Chemical Record 21:11, pages 2980-2989.
Crossref
Crossref
Marwa Abdelhakim, Eunice McMurray, Ali Raza Syed, Senay Kafkas, Allan Anthony Kamau, Paul N Schofield & Robert Hoehndorf. (2020) DDIEM: drug database for inborn errors of metabolism. Orphanet Journal of Rare Diseases 15:1.
Crossref
Crossref
Patrick Weber, Martin Thonhofer, Summer Averill, Gideon J. Davies, Andres Gonzalez Santana, Philipp Müller, Seyed A. Nasseri, Wendy A. Offen, Bettina M. Pabst, Eduard Paschke, Michael Schalli, Ana Torvisco, Marion Tschernutter, Christina Tysoe, Werner Windischhofer, Stephen G. Withers, Andreas Wolfsgruber, Tanja M. Wrodnigg & Arnold E. Stütz. (2020) Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine. Molecules 25:17, pages 4025.
Crossref
Crossref
Alexandria Colaco, María E Fernández-Suárez, Dawn Shepherd, Lihi Gal, Chen Bibi, Silvia Chuartzman, Alan Diot, Karl Morten, Emily Eden, Forbes D Porter, Joanna Poulton, Nick Platt, Maya Schuldiner & Frances M Platt. (2020) Unbiased yeast screens identify cellular pathways affected in Niemann–Pick disease type C. Life Science Alliance 3:7, pages e201800253.
Crossref
Crossref
Brunella Tancini, Sandra Buratta, Krizia Sagini, Eva Costanzi, Federica Delo, Lorena Urbanelli & Carla Emiliani. (2019) Insight into the Role of Extracellular Vesicles in Lysosomal Storage Disorders. Genes 10:7, pages 510.
Crossref
Crossref
Robert A. Brown, Antanina Voit, Manasa P. Srikanth, Julia A. Thayer, Tami J. Kingsbury, Marlene A. Jacobson, Marta M. Lipinski, Ricardo A. Feldman & Ola Awad. (2019) mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells. Disease Models & Mechanisms.
Crossref
Crossref
Martin Witt, René Thiemer, Anja Meyer, Oliver Schmitt & Andreas Wree. (2018) Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1. International Journal of Molecular Sciences 19:11, pages 3563.
Crossref
Crossref
Frances M. Platt, Alessandra d’Azzo, Beverly L. Davidson, Elizabeth F. Neufeld & Cynthia J. Tifft. (2018) Lysosomal storage diseases. Nature Reviews Disease Primers 4:1.
Crossref
Crossref
Alaa Abou Daher, Tatiana El Jalkh, Assaad Eid, Alessia Fornoni, Brian Marples & Youssef Zeidan. (2017) Translational Aspects of Sphingolipid Metabolism in Renal Disorders. International Journal of Molecular Sciences 18:12, pages 2528.
Crossref
Crossref
Arnold E. Stütz & Tanja M. Wrodnigg. 2016.
225
302
.
Massimo Tatti, Marialetizia Motta, Susanna Scarpa, Sabrina Di Bartolomeo, Valentina Cianfanelli, Marco Tartaglia & Rosa Salvioli. (2015)
BCM-95 and (2-hydroxypropyl)-
?
-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts
. Human Molecular Genetics 24:15, pages 4198-4211.
Crossref
Crossref
Wei Shen, Anastasia G. Henry, Katrina L. Paumier, Li Li, Kewa Mou, John Dunlop, Zdenek Berger & Warren D. Hirst. (2014) Inhibition of glucosylceramide synthase stimulates autophagy flux in neurons. Journal of Neurochemistry 129:5, pages 884-894.
Crossref
Crossref
Antoine Joosten, Camille Decroocq, Julien de Sousa, Jérémy P. Schneider, Emile Etamé, Anne Bodlenner, Terry D. Butters & Philippe Compain. (2014) A Systematic Investigation of Iminosugar Click Clusters as Pharmacological Chaperones for the Treatment of Gaucher Disease. ChemBioChem 15:2, pages 309-319.
Crossref
Crossref
Katherine A. Lyseng-Williamson. (2013) Miglustat: A Review of Its Use in Niemann-Pick Disease Type C. Drugs 74:1, pages 61-74.
Crossref
Crossref
Faten Ben Rhouma, Faten Kallel, Rym Kefi, Wafa Cherif, Majdi Nagara, Hela Azaiez, Ines Jedidi, Moez Elloumi, Sonia Abdelhak & Sondes Mseddi. (2012) Adult gaucher disease in southern Tunisia: report of three cases. Diagnostic Pathology 7:1.
Crossref
Crossref
William C. Lamanna, Roger Lawrence, Stéphane Sarrazin, Carlos Lameda-Diaz, Philip L. S.M. Gordts, Kelley W. Moremen & Jeffrey D. Esko. (2012) A Genetic Model of Substrate Reduction Therapy for Mucopolysaccharidosis. Journal of Biological Chemistry 287:43, pages 36283-36290.
Crossref
Crossref
Shimon Gatt & Arie Dagan. (2012) Cancer and sphingolipid storage disease therapy using novel synthetic analogs of sphingolipids. Chemistry and Physics of Lipids 165:4, pages 462-474.
Crossref
Crossref
Karen M. Ashe, Dinesh Bangari, Lingyun Li, Mario A. Cabrera-Salazar, Scott D. Bercury, Jennifer B. Nietupski, Christopher G. F. Cooper, Johannes M. F. G. Aerts, Edward R. Lee, Diane P. Copeland, Seng H. Cheng, Ronald K. Scheule & John Marshall. (2011) Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease. PLoS ONE 6:6, pages e21758.
Crossref
Crossref
Farah Oula?di, Sophie Front-Deschamps, Estelle Gallienne, Eric Lesellier, Kyoko Ikeda, Naoki Asano, Philippe Compain & Olivier R. Martin. (2011) Second-Generation Iminoxylitol-Based Pharmacological Chaperones for the Treatment of Gaucher Disease. ChemMedChem 6:2, pages 353-361.
Crossref
Crossref
Robin Lachmann. (2010) Treatments for lysosomal storage disorders. Biochemical Society Transactions 38:6, pages 1465-1468.
Crossref
Crossref
Marcella Masciullo, Massimo Santoro, Anna Modoni, Enzo Ricci, Jerome Guitton, Pietro Tonali & Gabriella Silvestri. (2010) Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. Journal of Inherited Metabolic Disease 33:S3, pages 355-361.
Crossref
Crossref
Tse Siang Kang & Raymond C. Stevens. (2009) Structural aspects of therapeutic enzymes to treat metabolic disorders. Human Mutation 30:12, pages 1591-1610.
Crossref
Crossref
Cristin D. Davidson, Nafeeza F. Ali, Matthew C. Micsenyi, Gloria Stephney, Sophie Renault, Kostantin Dobrenis, Daniel S. Ory, Marie T. Vanier & Steven U. Walkley. (2009) Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression. PLoS ONE 4:9, pages e6951.
Crossref
Crossref
Gustavo H.B. Maegawa, Paul L.M. van Giersbergen, Sandra Yang, Brenda Banwell, Christopher P. Morgan, Jasper Dingemanse, Cynthia J. Tifft & Joe T.R. Clarke. (2009) Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis. Molecular Genetics and Metabolism 97:4, pages 284-291.
Crossref
Crossref
Frances M. Platt & Robin H. Lachmann. (2009) Treating lysosomal storage disorders: Current practice and future prospects. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1793:4, pages 737-745.
Crossref
Crossref
Elena Elliot-Smith, Anneliese O. Speak, Emyr Lloyd-Evans, David A. Smith, Aarnoud C. van der Spoel, Mylvaganam Jeyakumar, Terry D. Butters, Raymond A. Dwek, Alessandra d’Azzo & Frances M. Platt. (2008) Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. Molecular Genetics and Metabolism 94:2, pages 204-211.
Crossref
Crossref
Jin-Song Shen, Nancy J. Edwards, Young Bin Hong & Gary J. Murray. (2008) Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase. Biochemical and Biophysical Research Communications 369:4, pages 1071-1075.
Crossref
Crossref
Mitra Assadi, Susan Baseman, Christopher Janson, Dah-Jyuu Wang, Larissa Bilaniuk & Paola Leone. (2007) Serial 1H-MRS in GM2 gangliosidoses. European Journal of Pediatrics 167:3, pages 347-352.
Crossref
Crossref
Derralynn A Hughes, Alan Milligan & Atul Mehta. (2007) Home therapy for lysosomal storage disorders. British Journal of Nursing 16:22, pages 1384-1389.
Crossref
Crossref
Kerry Anne McEachern, John Fung, Svetlana Komarnitsky, Craig S. Siegel, Wei-Lien Chuang, Elizabeth Hutto, James A. Shayman, Gregory A. Grabowski, Johannes M.F.G. Aerts, Seng H. Cheng, Diane P. Copeland & John Marshall. (2007) A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Molecular Genetics and Metabolism 91:3, pages 259-267.
Crossref
Crossref
Mark E Haskins. (2007) Animal models for mucopolysaccharidosis disorders and their clinical relevance. Acta Paediatrica 96, pages 56-62.
Crossref
Crossref
D. A. Priestman, A. C. van der Spoel, T. D. Butters, R. A. Dwek & F. M. Platt. (2007) N-butyldeoxynojirimycin causes weight loss as a result of appetite suppression in lean and obese mice. Diabetes, Obesity and Metabolism 0:0, pages 070202014727002-???.
Crossref
Crossref
Michael Beck & Karl J. Lackner. 2007. Medizinische Therapie 2007 | 2008. Medizinische Therapie 2007 | 2008
515
524
.
John A. Barranger & Mario A. Cabrera-SalazarFrances M. Platt & Terry D. Butters. 2007. Lysosomal Storage Disorders. Lysosomal Storage Disorders
153
168
.
P. Chérin, F. Sedel, C. Mignot, M. Schupbach, I. Gourfinkel-An, M. Verny & N. Baumann. (2006) Les manifestations neurologiques de la maladie de Gaucher de type 1 : vers une remise en cause de la classification actuelle ?. Revue Neurologique 162:11, pages 1076-1083.
Crossref
Crossref
Nadia Aït Aïssa. (2006) Mode d’action et programme de recherche clinique du miglustat. La Presse Médicale 35, pages 21-23.
Crossref
Crossref
Robin H Lachmann. (2005) Miglustat: substrate reduction therapy for glycosphingolipid storage disorders. Therapy 2:4, pages 569-576.
Crossref
Crossref
Karl J. Lackner & Michael Beck. 2005. Medizinische Therapie 2005|2006. Medizinische Therapie 2005|2006
465
471
.
Frances M. Platt, Mylvaganam Jeyakumar, Ulrika Andersson, Raymond A. Dwek & Terry D. Butters. 2005. Glycobiology and Medicine. Glycobiology and Medicine
117
126
.
William Krivit. (2004) Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases. Springer Seminars in Immunopathology 26:1-2, pages 119-132.
Crossref
Crossref
Marc C. Patterson & Frances Platt. (2004) Therapy of Niemann–Pick disease, type C. Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids 1685:1-3, pages 77-82.
Crossref
Crossref
Robin H Lachmann, Danielle te Vruchte, Emyr Lloyd-Evans, Gabriele Reinkensmeier, Daniel J Sillence, Luisa Fernandez-Guillen, Raymond A Dwek, Terry D Butters, Timothy M Cox & Frances M Platt. (2004) Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C. Neurobiology of Disease 16:3, pages 654-658.
Crossref
Crossref
William R Wilcox. (2004) Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care. The Journal of Pediatrics 144:5, pages S3-S14.
Crossref
Crossref
N. Matthew Ellinwood, Charles H. Vite & Mark E. Haskins. (2004) Gene therapy for lysosomal storage diseases: the lessons and promise of animal models. The Journal of Gene Medicine 6:5, pages 481-506.
Crossref
Crossref
Pierre D?chelotte. (2004) Maladie de Gaucher de type 1 chez l?adulte. La Presse M?dicale 33:7, pages 494-496.
Crossref
Crossref
Elena I Miklyaeva, Weijia Dong, Alexandre Bureau, Roya Fattahie, Yongqin Xu, Meng Su, Gordon H Fick, Jing-Qi Huang, Suleiman Igdoura, Nobuo Hanai & Roy A Gravel. (2004) Late onset Tay–Sachs disease in mice with targeted disruption of the Hexa gene: behavioral changes and pathology of the central nervous system. Brain Research 1001:1-2, pages 37-50.
Crossref
Crossref
Fran Platt, Terry Butters & Raymond Dwek. (2004) Substrate reduction therapy in lysosomal storage diseases: a clarification. Nature Reviews Drug Discovery 3:1, pages 98-98.
Crossref
Crossref
T. M. Cox, J. M. F. G. Aerts, G. Andria, M. Beck, N. Belmatoug, B. Bembi, R. Chertkoff, S. Vom Dahl, D. Elstein, A. Erikson, M. Giralt, R. Heitner, C. Hollak, M. Hrebicek, S. Lewis, A. Mehta, G. M. Pastores, A. Rolfs, M. C. Sa Miranda & A. Zimran. (2003)
The role of the iminosugar
N
-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
. Journal of Inherited Metabolic Disease 26:6, pages 513-526.
Crossref
Crossref
Terry D. Butters, Howard R. Mellor, Keishi Narita, Raymond A. Dwek & Frances M. Platt. (2003) Small–molecule therapeutics for the treatment of glycolipid lysosomal storage disorders. Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 358:1433, pages 927-945.
Crossref
Crossref
Chris Moyses. (2003) Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease. Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 358:1433, pages 955-960.
Crossref
Crossref
Dan J. Sillence & Frances M. Platt. (2003) Storage diseases: new insights into sphingolipid functions. Trends in Cell Biology 13:4, pages 195-203.
Crossref
Crossref
Aarnoud C. van der Spoel, Mylvaganam Jeyakumar, Terry D. Butters, Harry M. Charlton, Harry D. Moore, Raymond A. Dwek & Frances M. Platt. (2002) Reversible infertility in male mice after oral administration of alkylated imino sugars: A nonhormonal approach to male contraception. Proceedings of the National Academy of Sciences 99:26, pages 17173-17178.
Crossref
Crossref
Tadashi Yamashita, Ryuichi Wada & Richard L Proia. (2002) Early developmental expression of the gene encoding glucosylceramide synthase, the enzyme controlling the first committed step of glycosphingolipid synthesis. Biochimica et Biophysica Acta (BBA) - General Subjects 1573:3, pages 236-240.
Crossref
Crossref
Dan J. Sillence, Vishwajeet Puri, David L. Marks, Terry D. Butters, Raymond A. Dwek, Richard E. Pagano & Frances M. Platt. (2002) Glucosylceramide modulates membrane traffic along the endocytic pathway. Journal of Lipid Research 43:11, pages 1837-1845.
Crossref
Crossref
M. Jeyakumar, T. D. Butters, R. A. Dwek & F. M. Platt. (2002) Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis. Neuropathology and Applied Neurobiology 28:5, pages 343-357.
Crossref
Crossref
Raphael Schiffmann & Roscoe O. Brady. (2002) New Prospects for the Treatment of Lysosomal Storage Diseases. Drugs 62:5, pages 733-742.
Crossref
Crossref
Raymond A. Dwek, Terry D. Butters, Frances M. Platt & Nicole Zitzmann. (2002) Targeting glycosylation as a therapeutic approach. Nature Reviews Drug Discovery 1:1, pages 65-75.
Crossref
Crossref