Results 151 to 160 of about 477,265 (189)

Prism[5]arene Iminosugar Bioconjugates Are Potent Multivalent Inhibitors and Mutation Specific Pharmacological Chaperones of Glucocerebrosidase (GCase) Activity. [PDF]

open access: yesBioconjug Chem
Palmieri A   +14 more
europepmc   +1 more source

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones [PDF]

open access: yesInternational Journal of Molecular Sciences, 2022
Fabry disease is caused by a deficiency of lysosomal alpha galactosidase and has a very large genotypic and phenotypic spectrum. Some patients who carry hypomorphic mutations can benefit from oral therapy with a pharmacological chaperone.
Bruno Hay Mele   +2 more
exaly   +2 more sources
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Pharmacological Chaperones: Beyond Conformational Disorders

Handbook of Experimental Pharmacology, 2017
Pharmacological chaperones (PCs) are small molecules that bind to nascent protein targets to facilitate their biogenesis. The ability of PCs to assist in the folding and subsequent forward trafficking of disease-causative protein misfolding mutants has opened new avenues for the treatment of conformational diseases such as cystic fibrosis and lysosomal
Nancy J Leidenheimer
exaly   +3 more sources

Screening methods for identifying pharmacological chaperones

Molecular BioSystems, 2017
Abstract Protein folding is crucial for most proteins to achieve their correct three-dimensional conformations and function properly. Defects in protein folding frequently caused by mutations lead to a range of protein misfolding diseases, including Alzheimer’s disease, Parkinson’s disease, cystic fibrosis, amyloidosis, Gaucher ...
Min Hyeon Shin, Hyun-Suk Lim
openaire   +3 more sources

Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases

Journal of Medicinal Chemistry, 2013
Lysosomal enzymes are responsible for the degradation of a wide variety of glycolipids, oligosaccharides, proteins, and glycoproteins. Inherited mutations in the genes that encode these proteins can lead to reduced stability of newly synthesized lysosomal enzymes.
Robert E, Boyd   +6 more
openaire   +2 more sources

Pharmacological chaperones: potential treatment for conformational diseases

Trends in Endocrinology & Metabolism, 2004
Increasing numbers of inherited diseases are found to result from mutations that lead to misfolded proteins. In many cases, the changes in conformation are relatively modest and the function of the protein would not be predicted to be affected. Yet, these proteins are recognized as "misfolded" and degraded prematurely.
Virginie, Bernier   +3 more
openaire   +2 more sources

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