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Pharmacological small molecules for the treatment of lysosomal storage disorders

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Pages 1367-1379 | Published online: 13 Oct 2010

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Bouwien E Smid & Carla EM Hollak. (2014) A systematic review on effectiveness and safety of eliglustat for type 1 Gaucher disease. Expert Opinion on Orphan Drugs 2:5, pages 523-529.
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Angela Gritti. (2011) Gene therapy for lysosomal storage disorders. Expert Opinion on Biological Therapy 11:9, pages 1153-1167.
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Juan M Benito, José M García Fernández & Carmen Ortiz Mellet. (2011) Pharmacological chaperone therapy for Gaucher disease: a patent review. Expert Opinion on Therapeutic Patents 21:6, pages 885-903.
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Nicolás Cabrera, Sebastián A. Cuesta, José R. Mora, José Luis Paz, Edgar A. Márquez, Patricio J. Espinoza-Montero, Yovani Marrero-Ponce, Noel Pérez & Ernesto Contreras-Torres. (2022) Searching glycolate oxidase inhibitors based on QSAR, molecular docking, and molecular dynamic simulation approaches. Scientific Reports 12:1.
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Basudeb Mondal, Tahiti Dutta, Abinash Padhy, Sabyasachi Das & Sayam Sen Gupta. (2021) Lysosome-Targeting Strategy Using Polypeptides and Chimeric Molecules. ACS Omega 7:1, pages 5-16.
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Maria Dolores Moya-Garzon, Jose Antonio Gomez-Vidal, Alfonso Alejo-Armijo, Joaquin Altarejos, Juan Roberto Rodriguez-Madoz, Miguel Xavier Fernandes, Eduardo Salido, Sofia Salido & Monica Diaz-Gavilan. (2021) Small Molecule-Based Enzyme Inhibitors in the Treatment of Primary Hyperoxalurias. Journal of Personalized Medicine 11:2, pages 74.
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Berna Seker Yilmaz, James Davison, Simon A. Jones & Julien Baruteau. (2020) Novel therapies for mucopolysaccharidosis type III . Journal of Inherited Metabolic Disease 44:1, pages 129-147.
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María Dolores Moya-Garzón, Cristina Martín Higueras, Pablo Peñalver, Manuela Romera, Miguel X. Fernandes, Francisco Franco-Montalbán, José A. Gómez-Vidal, Eduardo Salido & Mónica Díaz-Gavilán. (2018) Salicylic Acid Derivatives Inhibit Oxalate Production in Mouse Hepatocytes with Primary Hyperoxaluria Type 1. Journal of Medicinal Chemistry 61:16, pages 7144-7167.
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Cristina Martin-Higueras, Armando Torres & Eduardo Salido. (2017) Molecular therapy of primary hyperoxaluria. Journal of Inherited Metabolic Disease 40:4, pages 481-489.
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Cristina Martin-Higueras, Sergio Luis-Lima & Eduardo Salido. (2016) Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I. Molecular Therapy 24:4, pages 719-725.
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Marie T. Vanier, Catherine Caillaud & Thierry Levade. 2016. Inborn Metabolic Diseases. Inborn Metabolic Diseases 551 575 .
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.
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Miao Xu, Ke Liu, Manju Swaroop, Wei Sun, Seameen J. Dehdashti, John C. McKew & Wei Zheng. (2014) A Phenotypic Compound Screening Assay for Lysosomal Storage Diseases. SLAS Discovery 19:1, pages 168-175.
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Julio Rodríguez-Lavado, Mario de la Mata, José L. Jiménez-Blanco, M. Isabel García-Moreno, Juan M. Benito, Antonio Díaz-Quintana, José A. Sánchez-Alcázar, Katsumi Higaki, Eiji Nanba, Kousaku Ohno, Yoshiyuki Suzuki, Carmen Ortiz Mellet & José M. García Fernández. (2014) Targeted delivery of pharmacological chaperones for Gaucher disease to macrophages by a mannosylated cyclodextrin carrier. Org. Biomol. Chem. 12:14, pages 2289-2301.
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Pilar Alfonso, Vanesa Andreu, Almudena Pino‐Angeles, Aurelio A. Moya‐García, M. Isabel García‐Moreno, José C. Rodríguez‐Rey, Francisca Sánchez‐Jiménez, Miguel Pocoví, Carmen Ortiz Mellet, Jose M. García Fernández & Pilar Giraldo. (2013) Bicyclic Derivatives of L ‐Idonojirimycin as Pharmacological Chaperones for Neuronopathic Forms of Gaucher Disease . ChemBioChem 14:8, pages 943-949.
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Laura López Marín & Luis González Gutiérrez-Solana. (2013) Tratamiento de las enfermedades lisosomales en la población pediátrica. Anales de Pediatría Continuada 11:3, pages 159-161.
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Neal J. Weinreb & Barry E. Rosenbloom. (2013) Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly. Open Journal of Genetics 03:01, pages 24-43.
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Raymond Kooij, Hilbert M. Branderhorst, Simon Bonte, Sara Wieclawska, Nathaniel I. Martin & Roland J. Pieters. (2013) Glycosidase inhibition by novel guanidinium and urea iminosugar derivatives. Med. Chem. Commun. 4:2, pages 387-393.
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Robert J. Desnick, Edward H. Schuchman, Kenneth H. Astrin & Seng H. Cheng. 2013. Emery and Rimoin's Principles and Practice of Medical Genetics. Emery and Rimoin's Principles and Practice of Medical Genetics 1 30 .
Lori Krim Gavrin, Rajiah Aldrin Denny & Eddine Saiah. (2012) Small Molecules That Target Protein Misfolding. Journal of Medicinal Chemistry 55:24, pages 10823-10843.
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Jingbo Xiao, Wendy Westbroek, Omid Motabar, Wendy A. Lea, Xin Hu, Arash Velayati, Wei Zheng, Noel Southall, Ann Marie Gustafson, Ehud Goldin, Ellen Sidransky, Ke Liu, Anton Simeonov, Rafael J. Tamargo, Antonia Ribes, Leslie Matalonga, Marc Ferrer & Juan J. Marugan. (2012) Discovery of a Novel Noniminosugar Acid α Glucosidase Chaperone Series. Journal of Medicinal Chemistry 55:17, pages 7546-7559.
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Javier Castilla, Rocío Rísquez, Deysi Cruz, Katsumi Higaki, Eiji Nanba, Kousaku Ohno, Yoshiyuki Suzuki, Yolanda Díaz, Carmen Ortiz Mellet, José M. García Fernández & Sergio Castillón. (2012) Conformationally-Locked N -Glycosides with Selective β-Glucosidase Inhibitory Activity: Identification of a New Non-Iminosugar-Type Pharmacological Chaperone for Gaucher Disease . Journal of Medicinal Chemistry 55:15, pages 6857-6865.
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Silvia Muro. (2012) Strategies for delivery of therapeutics into the central nervous system for treatment of lysosomal storage disorders. Drug Delivery and Translational Research 2:3, pages 169-186.
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Jennifer B. Nietupski, Joshua J. Pacheco, Wei-Lien Chuang, Kimberly Maratea, Lingyun Li, Joseph Foley, Karen M. Ashe, Christopher G.F. Cooper, Johannes M.F.G. Aerts, Diane P. Copeland, Ronald K. Scheule, Seng H. Cheng & John Marshall. (2012) Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice. Molecular Genetics and Metabolism 105:4, pages 621-628.
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M. Aguilar-Moncayo, T. Takai, K. Higaki, T. Mena-Barragán, Y. Hirano, K. Yura, L. Li, Y. Yu, H. Ninomiya, M. I. García-Moreno, S. Ishii, Y. Sakakibara, K. Ohno, E. Nanba, C. Ortiz Mellet, J. M. García Fernández & Y. Suzuki. (2012) Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis. Chemical Communications 48:52, pages 6514.
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Omid Motabar, Ehud Goldin, William Leister, Ke Liu, Noel Southall, Wenwei Huang, Juan J. Marugan, Ellen Sidransky & Wei Zheng. (2011) A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide. Analytical and Bioanalytical Chemistry 402:2, pages 731-739.
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Marie T. Vanier & Catherine Caillaud. 2012. Inborn Metabolic Diseases. Inborn Metabolic Diseases 555 577 .
Haifeng Geng, Grace Whiteley, Jameson Ribbens, Wei Zheng, Noel Southall, Xin Hu, Juan J. Marugan, Marc Ferrer & Gustavo H. B. Maegawa. (2011) Novel Patient Cell-Based HTS Assay for Identification of Small Molecules for a Lysosomal Storage Disease. PLoS ONE 6:12, pages e29504.
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. (2011) Current World Literature. Current Opinion in Pediatrics 23:6, pages 700-707.
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Sarah F. Jenkinson, George W. J. Fleet, Robert J. Nash, Yuriko Koike, Isao Adachi, Akihide Yoshihara, Kenji Morimoto, Ken Izumori & Atsushi Kato. (2011) Looking-Glass Synergistic Pharmacological Chaperones: DGJ and L-DGJ from the Enantiomers of Tagatose. Organic Letters 13:15, pages 4064-4067.
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Hui Zhou, Paul Fernhoff & Robert F. Vogt. (2011) Newborn Bloodspot Screening for Lysosomal Storage Disorders. The Journal of Pediatrics 159:1, pages 7-13.e1.
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Johannes M. F. G. Aerts, Wouter W. Kallemeijn, Wouter Wegdam, Maria Joao Ferraz, Marielle J. van Breemen, Nick Dekker, Gertjan Kramer, Ben J. Poorthuis, Johanna E. M. Groener, Josanne Cox-Brinkman, Saskia M. Rombach, Carla E. M. Hollak, Gabor E. Linthorst, Martin D. Witte, Henrik Gold, Gijs A. van der Marel, Herman S. Overkleeft & Rolf G. Boot. (2011) Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. Journal of Inherited Metabolic Disease 34:3, pages 605-619.
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Meera Shanmuganathan & Philip Britz-McKibbin. (2011) Inhibitor screening of pharmacological chaperones for lysosomal β-glucocerebrosidase by capillary electrophoresis. Analytical and Bioanalytical Chemistry 399:8, pages 2843-2853.
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