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Emerging therapies and therapeutic concepts for lysosomal storage diseases

, PhD (Chief Scientific Officer)
Pages 385-404 | Published online: 20 Mar 2013

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Azam Safary, Hakimeh Moghaddas-Sani, Mostafa Akbarzadeh-Khiavi, Alireza Khabbazzi, Mohammad A. Rafi & Yadollah Omidi. (2021) Enzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses. Expert Opinion on Biological Therapy 21:9, pages 1181-1197.
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Dolan Sondhi, Jonathan B Rosenberg, Benjamin G Van de Graaf, Stephen M Kaminsky & Ronald G Crystal. (2013) Advances in the treatment of neuronal ceroid lipofuscinosis. Expert Opinion on Orphan Drugs 1:12, pages 951-975.
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Seii Ohka, Soon Hao Tan, Eri Ishiyama, Katsutoshi Ogasawara, Tomohito Hanasaka, Kinji Ishida, Kyoji Hagiwara, Chia-Chyi Liu, Pele Choi-Sing Chong, Ken-ichi Hanaki & Giampietro Schiavo. (2022) The uncoating of EV71 in mature late endosomes requires CD-M6PR. Biology Open 11:9.
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Azam Safary, Mostafa Akbarzadeh, Jaleh Barar & Yadollah Omidi. 2022. Nanoengineering of Biomaterials. Nanoengineering of Biomaterials 389 426 .
Valeria Calvaresi, Line T. Truelsen, Sidsel B. Larsen, Nikolaj H. T. Petersen, Thomas Kirkegaard & Kasper D. Rand. (2021) Conformational dynamics of free and membrane-bound human Hsp70 in model cytosolic and endo-lysosomal environments. Communications Biology 4:1.
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Brigitte T. A. van den Broek, Jaap van Doorn, Charlotte V. HegemanStefan Nierkens, Caroline A. Lindemans, Nanda Verhoeven-Duif, Jaap Jan Boelens & Peter M. van Hasselt. (2020) Hurdles in treating Hurler disease: potential routes to achieve a “real” cure. Blood Advances 4:12, pages 2837-2849.
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Jaclyn Cadaoas, Gabrielle Boyle, Steven Jungles, Sean Cullen, Michel Vellard, Jeffrey H. Grubb, Agnieszka Jurecka, William Sly & Emil Kakkis. (2020) Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII. Molecular Genetics and Metabolism 130:1, pages 65-76.
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Erik Tambuyzer, Benjamin Vandendriessche, Christopher P. Austin, Philip J. Brooks, Kristina Larsson, Katherine I. Miller Needleman, James Valentine, Kay Davies, Stephen C. Groft, Robert Preti, Tudor I. Oprea & Marco Prunotto. (2019) Therapies for rare diseases: therapeutic modalities, progress and challenges ahead. Nature Reviews Drug Discovery 19:2, pages 93-111.
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M. López Rodríguez. (2018) Treatment in Fabry disease. Revista Clínica Española (English Edition) 218:9, pages 489-495.
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M. López Rodríguez. (2018) Tratamiento en la enfermedad de Fabry. Revista Clínica Española 218:9, pages 489-495.
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Cathrine K. Fog, Paola Zago, Erika Malini, Lukasz M. Solanko, Paolo Peruzzo, Claus Bornaes, Raffaella Magnoni, Arnela Mehmedbasic, Nikolaj H.T. Petersen, Bruno Bembi, Johannes F.M.G. Aerts, Andrea Dardis & Thomas Kirkegaard. (2018) The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase. eBioMedicine 38, pages 142-153.
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Azam Safary, Mostafa Akbarzadeh Khiavi, Rahimeh Mousavi, Jaleh Barar & Mohammad A Rafi. (2018) Enzyme replacement therapies: what is the best option?. BioImpacts 8:3, pages 153-157.
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Melani Solomon & Silvia Muro. (2017) Lysosomal enzyme replacement therapies: Historical development, clinical outcomes, and future perspectives. Advanced Drug Delivery Reviews 118, pages 109-134.
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Fedah E. Mohamed, Lihadh Al-Gazali, Fatma Al-Jasmi & Bassam R. Ali. (2017) Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises. Frontiers in Pharmacology 8.
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Jae-Wan Jung, Nguyen-Xuan Huy, Hyo-Boon Kim, Nan-Sun Kim, Do Van Giap & Moon-Sik Yang. (2017) Production of recombinant human acid α-glucosidase with high-mannose glycans in gnt1 rice for the treatment of Pompe disease. Journal of Biotechnology 249, pages 42-50.
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Chloe Christensen & Francis Choy. (2017) A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells. Diseases 5:1, pages 6.
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Edwin J. Vazquez-Cintron, Phillip H. Beske, Luis Tenezaca, Bao Q. Tran, Jonathan M. Oyler, Elliot J. Glotfelty, Christopher A. Angeles, Aurelia Syngkon, Jean Mukherjee, Suzanne R. Kalb, Philip A. Band, Patrick M. McNutt, Charles B. Shoemaker & Konstantin Ichtchenko. (2017) Engineering Botulinum Neurotoxin C1 as a Molecular Vehicle for Intra-Neuronal Drug Delivery. Scientific Reports 7:1.
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Marina I. Giannotti, Ibane Abasolo, Mireia Oliva, Fernanda Andrade, Natalia García-Aranda, Marta Melgarejo, Daniel Pulido, José L. Corchero, Yolanda Fernández, Antonio Villaverde, Miriam Royo, María F. García-Parajo, Fausto Sanz & Simó SchwartzJr.Jr.. (2016) Highly Versatile Polyelectrolyte Complexes for Improving the Enzyme Replacement Therapy of Lysosomal Storage Disorders. ACS Applied Materials & Interfaces 8:39, pages 25741-25752.
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Thomas KirkegaardJames GrayDavid A. PriestmanKerri-Lee WallomJennifer AtkinsOle Dines OlsenAlexander KleinSvetlana DrndarskiNikolaj H. T. PetersenLinda IngemannDavid A. SmithLauren MorrisClaus BornæsSigne Humle JørgensenIan WilliamsAnders HinsbyChristoph ArenzDavid BegleyMarja JäätteläFrances M. Platt. (2016) Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses. Science Translational Medicine 8:355.
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S.A. Syed Haneef & C. George Priya Doss. 2016. Personalized Medicine. Personalized Medicine 225 265 .
Maurizio Scarpa, Cinzia Bellettato & Christina Lampe. 2016. Drug Discovery and Evaluation: Pharmacological Assays. Drug Discovery and Evaluation: Pharmacological Assays 4053 4069 .
Jeff Rappaport, Rachel L. Manthe, Carmen Garnacho & Silvia Muro. (2015) Altered Clathrin-Independent Endocytosis in Type A Niemann-Pick Disease Cells and Rescue by ICAM-1-Targeted Enzyme Delivery. Molecular Pharmaceutics 12:5, pages 1366-1376.
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L. Choi, J. Vernon, O. Kopach, M.S. Minett, K. Mills, P.T. Clayton, T. Meert & J.N. Wood. (2015) The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain. Neuroscience Letters 594, pages 163-168.
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Saikat Santra & Uma Ramaswami. (2015) Lysosomal disorders. Paediatrics and Child Health 25:3, pages 123-132.
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Maurizio Scarpa, Cinzia Bellettato & Christina Lampe. 2014. Drug Discovery and Evaluation: Pharmacological Assays. Drug Discovery and Evaluation: Pharmacological Assays 1 20 .
Linda Ingemann & Thomas Kirkegaard. (2014) Lysosomal storage diseases and the heat shock response: convergences and therapeutic opportunities. Journal of Lipid Research 55:11, pages 2198-2210.
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