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Second-Generation Pharmacological Chaperones: Beyond Inhibitors

Tran, My Lan, Génisson, Yves, Ballereau, Stéphanie, Dehoux, Cécile·2020·Molecules
DOI 10.3390/molecules25143145PMC PMC7397201
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Abstract

Protein misfolding induced by missense mutations is the source of hundreds of conformational diseases. The cell quality control may eliminate nascent misfolded proteins, such as enzymes, and a pathological loss-of-function may result from their early degradation. Since the proof of concept in the 2000s, the bioinspired pharmacological chaperone therapy became a relevant low-molecular-weight compound strategy against conformational diseases. The first-generation pharmacological chaperones were competitive inhibitors of mutant enzymes. Counterintuitively, in binding to the active site, these inhibitors stabilize the proper folding of the mutated protein and partially rescue its cellular function. The main limitation of the first-generation pharmacological chaperones lies in the balance between enzyme activity enhancement and inhibition. Recent research efforts were directed towards the development of promising second-generation pharmacological chaperones. These non-inhibitory ligands, targeting previously unknown binding pockets, limit the risk of adverse enzymatic inhibition. Their pharmacophore identification is however challenging and likely requires a massive screening-based approach. This review focuses on second-generation chaperones designed to restore the cellular activity of misfolded enzymes. It intends to highlight, for a selected set of rare inherited metabolic disorders, the strategies implemented to identify and develop these pharmacologically relevant small organic molecules as potential drug candidates.

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  • TPT-172 crosses the blood-brain barrier in mice, inferred from similarity to other small pharmacological chaperones.

    “Although we do not have data showing that the pharmacological chaperone we used in our study has crossed the blood-brain barrier in our mice, we are confident that this is the case based on the similarity with other small pharmacological chaperones, most of which are predicted to have a good brain permeability [18, 19].”

    From Retromer Stabilization Improves Cognitive Function and Synaptic Plasticity in a Mouse Model of Down Syndrome (2023) · cites this paper as [19]

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Metadata

Authors
Tran, M. L., Génisson, Y., Ballereau, S., & Dehoux, C.
Affiliations
SPCMIB, UMR5068 CNRS-Université Paul Sabatier-Toulouse III, 118 route de Narbonne, F-31062 Toulouse, France
ORCID
Ballereau, Stéphanie
Venue
Molecules
Publisher
MDPI AG
Published
2020-07-09
Volume
25
Issue
14
Pages
3145
ISSN
1420-3049
DOI
10.3390/molecules25143145
PMC
PMC7397201
Cited by
63
References
2
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (vor)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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