Small molecules as therapeutic agents for inborn errors of metabolism
Author:
Funder
Centro de Investigación Biomédica en Red de Enfermedades Raras (ER)
Instituto de Salud Carlos III
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-016-0005-3.pdf
Reference194 articles.
1. Aflaki E, Borger DK, Moaven N et al (2016) A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism. J Neurosci 36(28):7441–7452
2. Ainsworth C (2005) Nonsense mutations: running the red light. Nature 438:726–728
3. Alfonso P, Pampín S, Estrada J, Rodríguez-Rey JC, Giraldo P, Sancho J, Pocoví M (2005) Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations. Blood Cells Mol Dis 35(2):268–276
4. Allamand V, Bidou L, Arakawa M et al (2008) Drug-induced readthrough of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes. J Gene Med 10(2):217–224
5. Ashe KM, Budman E, Bangari DS et al (2015) Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease. Mol Med 21:389–399
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