Published in Nat Med on January 01, 1999
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Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. Pharmacogenet Genomics (2008) 1.06
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Glucose-regulated protein 94 triage of mutant myocilin through endoplasmic reticulum-associated degradation subverts a more efficient autophagic clearance mechanism. J Biol Chem (2012) 0.95
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase. PLoS One (2015) 0.93
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease. Exp Mol Med (2009) 0.92
Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators. J Inherit Metab Dis (2014) 0.92
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests. Orphanet J Rare Dis (2011) 0.92
Animal models for metabolic, neuromuscular and ophthalmological rare diseases. Nat Rev Drug Discov (2013) 0.92
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Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. PLoS One (2013) 0.88
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Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease. J Biochem (2010) 0.86
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Protein quality control: the who's who, the where's and therapeutic escapes. Histochem Cell Biol (2007) 0.85
Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines. Orphanet J Rare Dis (2013) 0.85
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A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis. Biochem J (2013) 0.84
A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells. PLoS One (2013) 0.84
Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism. J Inherit Metab Dis (2010) 0.84
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Adamantyl glycosphingolipids provide a new approach to the selective regulation of cellular glycosphingolipid metabolism. J Biol Chem (2011) 0.82
Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice. Mol Ther (2015) 0.82
Enzyme enhancers for the treatment of Fabry and Pompe disease. Mol Ther (2014) 0.82
Anderson-Fabry disease in Austria. Wien Klin Wochenschr (2003) 0.82
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study. Ann Clin Transl Neurol (2016) 0.81
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The proteasome is involved in the degradation of different aquaporin-2 mutants causing nephrogenic diabetes insipidus. Am J Pathol (2003) 0.80
Ligand-promoted protein folding by biased kinetic partitioning. Nat Chem Biol (2017) 0.80
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Emerging novel concept of chaperone therapies for protein misfolding diseases. Proc Jpn Acad Ser B Phys Biol Sci (2014) 0.80
Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking. JIMD Rep (2011) 0.79
Using pharmacological chaperones to restore proteostasis. Pharmacol Res (2014) 0.79
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