Second-Generation Pharmacological Chaperones: Beyond Inhibitors [PDF]
Molecules, 2020 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 ...
Yves Génisson +2 more
exaly +8 more sources
Pharmacological Chaperone Therapy for Pompe Disease [PDF]
Molecules, 2021 Pompe disease (PD), a lysosomal storage disease, is caused by mutations of the GAA gene, inducing deficiency in the acid alpha-glucosidase (GAA). This enzymatic impairment causes glycogen burden in lysosomes and triggers cell malfunctions, especially in ...
Yves Génisson +2 more
exaly +5 more sources
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification [PDF]
Biomolecules, 2023 The treatment landscape for lysosomal storage disorders (LSDs) is rapidly evolving. An increase in the number of preclinical and clinical studies in the last decade has demonstrated that pharmacological chaperones are a feasible alternative to enzyme ...
Ian Keyzor +10 more
doaj +2 more sources
Structure-Activity Relationships of Dopamine Transporter Pharmacological Chaperones [PDF]
Frontiers in Cellular Neuroscience, 2022 Mutations in the dopamine transporter gene (SLC6A3) have been implicated in many human diseases. Among these is the infantile parkinsonism-dystonia known as Dopamine Transporter Deficiency Syndrome (DTDS).
Charles Sutton +12 more
doaj +2 more sources
Targeted stabilization of Munc18‐1 function via pharmacological chaperones [PDF]
EMBO Molecular Medicine, 2020 Heterozygous de novo mutations in the neuronal protein Munc18‐1 cause syndromic neurological symptoms, including severe epilepsy, intellectual disability, developmental delay, ataxia, and tremor.
Debra Abramov +6 more
doaj +2 more sources
Pharmacological chaperones restore proteostasis of epilepsy-associated GABAA receptor variants [PDF]
Pharmacological ResearchRecent advances in genetic diagnosis identified variants in genes encoding GABAA receptors as causative for genetic epilepsy. Here, we selected eight disease-associated variants in the α1 subunit of GABAA receptors causing mild to severe clinical ...
Ya-Juan Wang +4 more
doaj +2 more sources
The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models [PDF]
Biomolecules, 2021 Fabry disease is an X-linked multisystemic disorder caused by the impairment of lysosomal α-Galactosidase A, which leads to the progressive accumulation of glycosphingolipids and to defective lysosomal metabolism.
Pedro Besada +10 more
doaj +2 more sources
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones [PDF]
International Journal of Molecular Sciences, 2022 Bruno Hay Mele +2 more
exaly +2 more sources
Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations [PDF]
International Journal of Molecular Sciences, 2020 Bruno Hay Mele +2 more
exaly +2 more sources
Frontiers in Microbiology, 2022 RNA viruses have limited coding capacity and must therefore successfully subvert cellular processes to facilitate their replication. A fundamental challenge faced by both viruses and their hosts is the ability to achieve the correct folding and assembly ...
Victor Latorre, Ron Geller
doaj +1 more source