The use of pharmacological chaperones in rare diseases caused by reduced protein stability
Author:
Affiliation:
1. Precision Medicine and Metabolism Laboratory CIC bioGUNE Basque Research and Technology Alliance (BRTA) Bizkaia Spain
2. ATLAS Molecular Pharma Bizkaia Spain
3. CIBERehd Instituto de Salud Carlos III Madrid Spain
Publisher
Wiley
Subject
Molecular Biology,Biochemistry
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pmic.202200222
Reference147 articles.
1. The Significance of the Location of Mutations for the Native-State Dynamics of Human Lysozyme
2. Pivoting between Calmodulin Lobes Triggered by Calcium in the Kv7.2/Calmodulin Complex
3. Antisense Oligonucleotide-Mediated Exon Skipping for Duchenne Muscular Dystrophy: Progress and Challenges
4. Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2
5. Adapting Proteostasis for Disease Intervention
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