Pharmaceutical chaperones (PCs) are small compounds able to bind and stabilize misfolded proteins, allowing them to recover their native folding and thus their biological activity. In particular, lysosomal storage disorders (LSDs), a class of metabolic disorders due to genetic mutations that result in misfolded lysosomal enzymes, can strongly benefit from the use of PCs able to facilitate their translocation to the lysosomes. This results in a recovery of their catalytic activity. No PC for the GCase enzyme (lysosomal acid- -glucosidase, or glucocerebrosidase) has reached the market yet, despite the importance of this enzyme not only for Gaucher disease, the most common LSD, but also for neurological disorders, such as Parkinson’s disease. This review aims to describe the efforts made by the scientific community in the last 7 years (since 2015) in order to identify new PCs for the GCase enzyme, which have been mainly identified among glycomimetic-based compounds.

GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders / Macarena Martínez-Bailén, Francesca Clemente, Camilla Matassini, Francesca Cardona. - In: PHARMACEUTICALS. - ISSN 1424-8247. - ELETTRONICO. - 15:(2022), pp. 823-848. [10.3390/ph15070823]

GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders

Francesca Clemente
Writing – Original Draft Preparation
;
Camilla Matassini
Writing – Review & Editing
;
Francesca Cardona
Writing – Review & Editing
2022

Abstract

Pharmaceutical chaperones (PCs) are small compounds able to bind and stabilize misfolded proteins, allowing them to recover their native folding and thus their biological activity. In particular, lysosomal storage disorders (LSDs), a class of metabolic disorders due to genetic mutations that result in misfolded lysosomal enzymes, can strongly benefit from the use of PCs able to facilitate their translocation to the lysosomes. This results in a recovery of their catalytic activity. No PC for the GCase enzyme (lysosomal acid- -glucosidase, or glucocerebrosidase) has reached the market yet, despite the importance of this enzyme not only for Gaucher disease, the most common LSD, but also for neurological disorders, such as Parkinson’s disease. This review aims to describe the efforts made by the scientific community in the last 7 years (since 2015) in order to identify new PCs for the GCase enzyme, which have been mainly identified among glycomimetic-based compounds.
2022
15
823
848
Macarena Martínez-Bailén, Francesca Clemente, Camilla Matassini, Francesca Cardona
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1276925
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