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Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/0471140864.ps2809s79openalex-snapshot
Analysis of Protein Stability and Ligand Interactions by Thermal Shift Assay
inferredcites →https://doi.org/10.1002/anie.201505147openalex-snapshot
pH‐Responsive Pharmacological Chaperones for Rescuing Mutant Glycosidases
inferredcites →https://doi.org/10.1002/dta.1798openalex-snapshot
Looking for protein stabilizing drugs with thermal shift assay
inferredcites →https://doi.org/10.1002/emmm.200900036openalex-snapshot
Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics
inferredcites →https://doi.org/10.1002/hep.23209openalex-snapshot
Reduced expression of ATP7B affected by Wilson disease–causing mutations is rescued by pharmacological folding chaperones 4‐phenylbutyrate and curcumin†
inferredcites →https://doi.org/10.1002/humu.10041openalex-snapshot
Cystic fibrosis: A worldwide analysis ofCFTR mutations?correlation with incidence data and application to screening
inferredcites →https://doi.org/10.1002/humu.21121openalex-snapshot
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase
inferredcites →https://doi.org/10.1002/humu.21530openalex-snapshot
A pharmacogenetic approach to identify mutant forms of α‐galactosidase a that respond to a pharmacological chaperone for Fabry disease
inferredcites →https://doi.org/10.1002/humu.23682openalex-snapshot
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies
inferredcites →https://doi.org/10.1002/jimd.12167openalex-snapshot
Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort
inferredcites →https://doi.org/10.1002/mgg3.3openalex-snapshot
Biochemical phenotype of a common disease‐causing mutation and a possible therapeutic approach for the phosphomannomutase 2‐associated disorder of glycosylation
inferredcites →https://doi.org/10.1006/bbrc.1995.2416openalex-snapshot
Galactose Stabilizes Various Missense Mutants of α-Galactosidase in Fabry Disease
inferredcites →https://doi.org/10.1007/164_2017_55openalex-snapshot
Natural (and Unnatural) Small Molecules as Pharmacological Chaperones and Inhibitors in Cancer
inferredcites →https://doi.org/10.1007/164_2017_64openalex-snapshot
Pharmacoperones for Misfolded Gonadotropin Receptors
inferredcites →https://doi.org/10.1007/164_2017_68openalex-snapshot
Pharmacological Chaperones: Beyond Conformational Disorders
inferredcites →https://doi.org/10.1007/s10038-008-0316-9openalex-snapshot
Structural characterization of mutant α-galactosidases causing Fabry disease
inferredcites →https://doi.org/10.1007/s10545-009-1077-0openalex-snapshot
The pharmacological chaperone 1‐deoxygalactonojirimycin increases α‐galactosidase A levels in Fabry patient cell lines
inferredcites →https://doi.org/10.1007/s10545-016-0005-3openalex-snapshot
Small molecules as therapeutic agents for inborn errors of metabolism
inferredcites →https://doi.org/10.1016/0008-6215(87)80289-6openalex-snapshot
Synthesis of (+)-1,5-dideoxy-1,5-imino-d-galactitol, a potent α-d-galactosidase inhibitor
inferredcites →https://doi.org/10.1016/j.ab.2004.04.031openalex-snapshot
Evaluation of fluorescence-based thermal shift assays for hit identification in drug discovery
inferredcites →https://doi.org/10.1016/j.bbagen.2013.12.018openalex-snapshot
A thermodynamic assay to test pharmacological chaperones for Fabry disease
inferredcites →https://doi.org/10.1016/j.bmcl.2013.08.001openalex-snapshot
4-Phenylbutyric acid protects against neuronal cell death by primarily acting as a chemical chaperone rather than histone deacetylase inhibitor
inferredcites →https://doi.org/10.1016/j.cell.2008.06.037openalex-snapshot
Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases
inferredcites →https://doi.org/10.1016/j.chembiol.2011.10.012openalex-snapshot
The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase
inferredcites →https://doi.org/10.1016/j.ebiom.2018.11.037openalex-snapshot
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase
inferredcites →https://doi.org/10.1016/j.vascn.2012.08.001openalex-snapshot
Epigenetic histone acetylation and deacetylation mechanisms in experimental models of neurodegenerative disorders
inferredcites →https://doi.org/10.1016/j.ymgme.2011.01.013openalex-snapshot
Molecular mechanism for stabilization of a mutant α-galactosidase A involving M51I amino acid substitution by imino sugars
inferredcites →https://doi.org/10.1016/j.ymgme.2013.01.009openalex-snapshot
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects
inferredcites →https://doi.org/10.1016/s0008-6215(00)90138-1openalex-snapshot
Synthesis of 5-amino-5-deoxy-d-galactopyranose and 1,5-dideoxy-1,5-imino-d-galactitol, and their inhibition of α- and β-d-galactosidases
inferredcites →https://doi.org/10.1016/s0021-9258(17)37831-6openalex-snapshot
Different accessibilities in chromatin to histone acetylase.
inferredcites →https://doi.org/10.1016/s0022-3476(99)70138-1openalex-snapshot
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
inferredcites →https://doi.org/10.1016/s0140-6736(89)92024-2openalex-snapshot
ΔF508 GENE DELETION IN CYSTIC FIBROSIS IN SOUTHERN EUROPE
inferredcites →https://doi.org/10.1016/s1096-7192(02)00171-3openalex-snapshot
High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1919 patients observed from 1988 to 2002
inferredcites →https://doi.org/10.1021/acschembio.6b00195openalex-snapshot
Pharmacological Chaperones: Design and Development of New Therapeutic Strategies for the Treatment of Conformational Diseases
inferredcites →https://doi.org/10.1021/bi9002265openalex-snapshot
Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability
inferredcites →https://doi.org/10.1021/cb500143hopenalex-snapshot
Molecular Basis of 1-Deoxygalactonojirimycin Arylthiourea Binding to Human α-Galactosidase A: Pharmacological Chaperoning Efficacy on Fabry Disease Mutants
inferredcites →https://doi.org/10.1021/cr900238dopenalex-snapshot
Quantitative Correlation of Physical and Chemical Properties with Chemical Structure: Utility for Prediction
inferredcites →https://doi.org/10.1021/jm301557kopenalex-snapshot
Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases
inferredcites →https://doi.org/10.1021/ol201552qopenalex-snapshot
Looking-Glass Synergistic Pharmacological Chaperones: DGJ and L-DGJ from the Enantiomers of Tagatose
inferredcites →https://doi.org/10.1038/4801openalex-snapshot
Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor
inferredcites →https://doi.org/10.1038/cddis.2014.214openalex-snapshot
The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa
inferredcites →https://doi.org/10.1038/gim.2016.122openalex-snapshot
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
inferredcites →https://doi.org/10.1038/mt.2014.224openalex-snapshot
Enzyme Enhancers for the Treatment of Fabry and Pompe Disease
inferredcites →https://doi.org/10.1038/nbt1018-913openalex-snapshot
FDA approves Galafold, a triumph for Amicus
inferredcites →https://doi.org/10.1038/srep37583openalex-snapshot
Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria
inferredcites →https://doi.org/10.1039/c6cc01564fopenalex-snapshot
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, G M1 -gangliosidosis and Fabry diseases
inferredcites →https://doi.org/10.1039/c6mb00866fopenalex-snapshot
Screening methods for identifying pharmacological chaperones
inferredcites →https://doi.org/10.1039/c7sc04712fopenalex-snapshot
Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones
inferredcites →https://doi.org/10.1042/bcj20190513openalex-snapshot
Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease
inferredcites →https://doi.org/10.1046/j.1432-1327.2000.01457.xopenalex-snapshot
In vitro inhibition and intracellular enhancement of lysosomal α‐galactosidase A activity in Fabry lymphoblasts by 1‐deoxygalactonojirimycin and its derivatives
inferredcites →https://doi.org/10.1056/nejm200107053450104openalex-snapshot
Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy
inferredcites →https://doi.org/10.1056/nejmoa021654openalex-snapshot
Tetrahydrobiopterin as an Alternative Treatment for Mild Phenylketonuria
inferredcites →https://doi.org/10.1073/pnas.192582899openalex-snapshot
Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease
inferredcites →https://doi.org/10.1073/pnas.97.4.1796openalex-snapshot
Chemical chaperones mediate increased secretion of mutant α1-antitrypsin (α1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in α1-AT deficiency
inferredcites →https://doi.org/10.1074/jbc.m109.012393openalex-snapshot
Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease
inferredcites →https://doi.org/10.1074/jbc.m111.280016openalex-snapshot
Ex Vivo and in Vivo Effects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease
inferredcites →https://doi.org/10.1074/jbc.m111.293282openalex-snapshot
4-Phenylbutyrate Stimulates Hsp70 Expression through the Elp2 Component of Elongator and STAT-3 in Cystic Fibrosis Epithelial Cells
inferredcites →https://doi.org/10.1074/jbc.m114.586362openalex-snapshot
Conformational Response to Ligand Binding in Phosphomannomutase2
inferredcites →https://doi.org/10.1074/jbc.m312101200openalex-snapshot
Retinoids Assist the Cellular Folding of the Autosomal Dominant Retinitis Pigmentosa Opsin Mutant P23H
inferredcites →https://doi.org/10.1080/17512433.2018.1480367openalex-snapshot
Pharmacoperone drugs: targeting misfolded proteins causing lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational disorders
inferredcites →https://doi.org/10.1086/423146openalex-snapshot
A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases
inferredcites →https://doi.org/10.1093/hmg/ddv404openalex-snapshot
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model
inferredcites →https://doi.org/10.1093/hmg/ddy011openalex-snapshot
Functional rescue of misfolding ABCA3 mutations by small molecular correctors
inferredcites →https://doi.org/10.1093/nar/gkh131openalex-snapshot
UniProt: the Universal Protein knowledgebase
inferredcites →https://doi.org/10.1093/nar/gkw1012openalex-snapshot
MalaCards: an amalgamated human disease compendium with diverse clinical and genetic annotation and structured search
inferredcites →https://doi.org/10.1093/nar/gky092openalex-snapshot
UniProt: the universal protein knowledgebase
inferredcites →https://doi.org/10.1097/wco.0000000000000731openalex-snapshot
Clinical trials in amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1111/cge.13088openalex-snapshot
Protein misfolding diseases: Prospects of pharmacological treatment
inferredcites →https://doi.org/10.1111/j.1742-4658.2010.07588.xopenalex-snapshot
The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β‐glucosidase
inferredcites →https://doi.org/10.1126/science.aac4354openalex-snapshot
In vivo aspects of protein folding and quality control
inferredcites →https://doi.org/10.1126/scitranslmed.aat7467openalex-snapshot
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria
inferredcites →https://doi.org/10.1152/ajplung.2001.281.1.l43openalex-snapshot
Sodium 4-phenylbutyrate downregulates HSC 70 expression by facilitating mRNA degradation
inferredcites →https://doi.org/10.1152/ajplung.2001.281.1.l58openalex-snapshot
Induction of HSP70 promotes ΔF508 CFTR trafficking
inferredcites →https://doi.org/10.1152/physrev.00029.2016openalex-snapshot
Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases
inferredcites →https://doi.org/10.1158/0008-5472.can-05-4529openalex-snapshot
Celastrol, a Triterpene Extracted from the Chinese “Thunder of God Vine,” Is a Potent Proteasome Inhibitor and Suppresses Human Prostate Cancer Growth in Nude Mice
inferredcites →https://doi.org/10.1172/jci8688openalex-snapshot
Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants
inferredcites →https://doi.org/10.1177/108705710100600609openalex-snapshot
High-Density Miniaturized Thermal Shift Assays as a General Strategy for Drug Discovery
inferredcites →https://doi.org/10.1186/1750-1172-6-66openalex-snapshot
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
inferredcites →https://doi.org/10.1186/1750-1172-8-111openalex-snapshot
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
inferredcites →https://doi.org/10.1186/jbiol186openalex-snapshot
What are pharmacological chaperones and why are they interesting?
inferredcites →https://doi.org/10.1186/s13023-015-0273-2openalex-snapshot
Drug repositioning can accelerate discovery of pharmacological chaperones
inferredcites →https://doi.org/10.1194/jlr.m027193openalex-snapshot
Functional rescue of mutant ABCA1 proteins by sodium 4-phenylbutyrate
inferredcites →https://doi.org/10.1210/en.2012-1887openalex-snapshot
Impact of Clinically Relevant Mutations on the Pharmacoregulation and Signaling Bias of the Calcium-Sensing Receptor by Positive and Negative Allosteric Modulators
inferredcites →https://doi.org/10.1210/er.2013-1121openalex-snapshot
Chaperoning G Protein-Coupled Receptors: From Cell Biology to Therapeutics
inferredcites →https://doi.org/10.1210/jc.2013-1974openalex-snapshot
Loss-of-Function and Gain-of-Function Mutations of Calcium-Sensing Receptor: Functional Analysis and the Effect of Allosteric Modulators NPS R-568 and NPS 2143
inferredcites →https://doi.org/10.1210/jc.2017-00250openalex-snapshot
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
inferredcites →https://doi.org/10.1371/journal.pgen.1003632openalex-snapshot
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
inferredcites →https://doi.org/10.1371/journal.pone.0024738openalex-snapshot
Expression and In Vivo Rescue of Human ABCC6 Disease-Causing Mutants in Mouse Liver
inferredcites →https://doi.org/10.1371/journal.pone.0139882openalex-snapshot
Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2
inferredcites →https://doi.org/10.1371/journal.pone.0165463openalex-snapshot
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease
inferredcites →https://doi.org/10.1379/csc-269.1openalex-snapshot
Induction of heat shock proteins in differentiated human and rodent neurons by celastrol
inferredcites →https://doi.org/10.1517/13543776.2011.569162openalex-snapshot
Pharmacological chaperone therapy for Gaucher disease: a patent review
inferredcites →https://doi.org/10.3390/ijms17122010openalex-snapshot
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations
inferredcites →https://doi.org/10.3390/ijms20174164openalex-snapshot
β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG
inferredcites →https://doi.org/10.3390/molecules23040927openalex-snapshot
Probing the Inhibitor versus Chaperone Properties of sp2-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease
inferredcites →https://doi.org/10.3791/56550openalex-snapshot
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
inferredcites →https://doi.org/10.3892/mmr.2015.4636openalex-snapshot
4-Phenylbutyrate protects rat skin flaps against ischemia-reperfusion injury and apoptosis by inhibiting endoplasmic reticulum stress
inferredcites →https://doi.org/10.4155/ppa.12.74openalex-snapshot
Pharmacological Chaperones for Enzyme Enhancement Therapy in Genetic Diseases
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.2139/ssrn.4647251openalex-extracted
First Example of Multivalent Pyrrolidines Acting as Pharmacological Chaperones Against Gaucher Disease
inferred← citeshttps://doi.org/10.1002/1873-3468.13877openalex-snapshot
Co‐expression with chaperones can affect protein 3D structure as exemplified by loss‐of‐function variants of human prolidase
inferred← citeshttps://doi.org/10.1002/1873-3468.70081openalex-snapshot
Mechanisms governing GPCR anterograde transport
inferred← citeshttps://doi.org/10.1002/9783527831326.ch9openalex-snapshot
Carbohydrate‐Based Therapeutics for Lysosomal Storage Disorders
inferred← citeshttps://doi.org/10.1002/ange.202309306openalex-snapshot
A Fixable Fluorescence‐Quenched Substrate for Quantitation of Lysosomal Glucocerebrosidase Activity in Both Live and Fixed Cells
inferred← citeshttps://doi.org/10.1002/anie.202309306openalex-snapshot
A Fixable Fluorescence‐Quenched Substrate for Quantitation of Lysosomal Glucocerebrosidase Activity in Both Live and Fixed Cells
inferred← citeshttps://doi.org/10.1002/cbic.202200619openalex-snapshot
Synthesis of Uronic Acid 1‐Azasugars as Putative Inhibitors of α‐Iduronidase, β‐Glucuronidase and Heparanase**
inferred← citeshttps://doi.org/10.1002/cbic.70457openalex-snapshot
Enzyme‐Inspired Design of Redox‐Active Molecules for Promotion of Oxidative Protein Folding
inferred← citeshttps://doi.org/10.1002/hlca.202300219openalex-snapshot
N ‐Methyl‐ N ‐Alkylaminocyclopentanes: Powerful and Selective β‐ d ‐Glucocerebrosidase Inhibitors
inferred← citeshttps://doi.org/10.1002/hsr2.73323openalex-snapshot
Small Molecule Therapeutic Approaches With a Greater Focus on Hearing Loss: A Review
inferred← citeshttps://doi.org/10.1002/humu.23682openalex-snapshot
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies
inferred← citeshttps://doi.org/10.1002/ijch.202300152openalex-snapshot
Cystic Fibrosis Modulator Therapies: Bridging Insights from CF to other Membrane Protein Misfolding Diseases
inferred← citeshttps://doi.org/10.1002/iub.70101openalex-snapshot
Lipo‐Glc‐1,6‐ P 2 : A Bioprecursor Prodrug for Phosphomannomutase‐2 Congenital Disorder of Glycosylation
inferred← citeshttps://doi.org/10.1002/jimd.12461openalex-snapshot
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures
inferred← citeshttps://doi.org/10.1002/jimd.70043openalex-snapshot
Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient‐Derived Liver Disease Models
inferred← citeshttps://doi.org/10.1002/pmic.202200222openalex-snapshot
The use of pharmacological chaperones in rare diseases caused by reduced protein stability
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Use of Quantum Dots as Nanotheranostic Agents: Emerging Applications in Rare Genetic Diseases
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Rare Diseases and Orphan Drugs: Innovation Through Repurposing Strategies
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Cataracts and presbyopia
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Finding Second-Generation Pharmacochaperones: Getting Help From Computational Methods
inferred← citeshttps://doi.org/10.1016/bs.apcsb.2026.06.006openalex-snapshot
Small molecular chaperones regulate protein quality control in neurodegenerative diseases
inferred← citeshttps://doi.org/10.1016/j.abb.2025.110568openalex-snapshot
β-Galactosidase inhibition explored by biochemical methods and in silico studies for plant polyphenols
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New and potential strategies for the treatment of PMM2-CDG
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TMAO to the rescue of pathogenic protein variants
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Identification of potential pharmacological chaperones that selectively stabilize mutated Aspartoacylases in Canavan disease
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Exploring ligand interactions with human phosphomannomutases using recombinant bacterial thermal shift assay and biochemical validation
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Multivalent pyrrolidines acting as pharmacological chaperones against Gaucher disease
inferred← citeshttps://doi.org/10.1016/j.braindev.2024.10.006openalex-snapshot
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes
inferred← citeshttps://doi.org/10.1016/j.cbpa.2023.102403openalex-snapshot
Strategies for quantifying the enzymatic activities of glycoside hydrolases within cells and in vivo
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Therapeutic development approaches to treat haploinsufficiency diseases: restoring protein levels
inferred← citeshttps://doi.org/10.1016/j.ebiom.2025.105733openalex-snapshot
Impact of ER stress and the unfolded protein response on Fabry disease
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A robust bacterial high-throughput screening assay to identify pharmacological chaperones targeting human homogentisate 1,2-dioxygenase missense variants in alkaptonuria
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New therapeutic modalities for rare diseases
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Cysteine variants in PMM2 lead to protein instability and higher sensitivity to oxidative stress in PMM2-CDG
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Mysteries of the collagen triple helix
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A molecular genetics view on Mucopolysaccharidosis Type II
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Beyond Krabbe disease, the intriguing connection of galactocerebrosidase (GALC) with nervous system illness: A novel risk factor?
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Prediction of improved therapeutics for fabry disease patients generated by mutagenesis of the α-galactosidase A active site, dimer interface, and glycosylation region
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Pharmacological Targeting of Endoplasmic Reticulum Stress in Pancreatic Beta Cells
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Pathophysiology of long-term complications in classic galactosemia: What we do and do not know
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Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation
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Mucopolysaccharidosis VI: Therapeutic trategies and erspectives
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Key considerations for measuring α-galactosidase A activity after long-term migalastat therapy―Avoiding in vitro inhibition effects
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Molecular Insights into Myocilin and Its Glaucoma-Causing Misfolded Olfactomedin Domain Variants
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The Shape of Things to Come: α-Helical Membrane Protein Folding on the Ribosome
inferred← citeshttps://doi.org/10.1021/acs.jmedchem.2c00142openalex-snapshot
Identification of Human Alanine–Glyoxylate Aminotransferase Ligands as Pharmacological Chaperones for Variants Associated with Primary Hyperoxaluria Type 1
inferred← citeshttps://doi.org/10.1021/acs.jmedchem.4c00292openalex-snapshot
Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1
inferred← citeshttps://doi.org/10.1021/acsomega.5c07075openalex-snapshot
Microwave-Assisted Synthesis and Enzyme Stabilization Study of N -Alkyl Praziquantel Analogs for Arylsulfatase B: Possible Leads for Mucopolysaccharidosis VI Therapy
inferred← citeshttps://doi.org/10.1038/s41467-023-41191-zopenalex-snapshot
Exploiting the aggregation propensity of beta-lactamases to design inhibitors that induce enzyme misfolding
inferred← citeshttps://doi.org/10.1038/s41525-021-00265-xopenalex-snapshot
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance
inferred← citeshttps://doi.org/10.1038/s41589-022-00971-2openalex-snapshot
Deubiquitinase-targeting chimeras for targeted protein stabilization
inferred← citeshttps://doi.org/10.1039/d1ob00638jopenalex-snapshot
A joint method for the screening of pharmacological chaperones for phenylalanine hydroxylase
inferred← citeshttps://doi.org/10.1039/d3cs00032jopenalex-snapshot
Glycosidase-targeting small molecules for biological and therapeutic applications
inferred← citeshttps://doi.org/10.1039/d3ob01466eopenalex-snapshot
Gold nanoparticles decorated with monosaccharides and sulfated ligands as potential modulators of the lysosomal enzyme N -acetylgalactosamine-6-sulfatase (GALNS)
inferred← citeshttps://doi.org/10.1039/d6ob00021eopenalex-snapshot
Design of multivalent pharmacological chaperones against Pompe disease via metal-free ligation
inferred← citeshttps://doi.org/10.1042/bst20231061openalex-snapshot
Dopamine synthesis and transport: current and novel therapeutics for parkinsonisms
inferred← citeshttps://doi.org/10.1093/bib/bbac198openalex-snapshot
Computational methods to assist in the discovery of pharmacological chaperones for rare diseases
inferred← citeshttps://doi.org/10.1093/jb/mvae048openalex-snapshot
Neurodegenerative diseases associated with the disruption of proteostasis and their therapeutic strategies using chemical chaperones
inferred← citeshttps://doi.org/10.1097/crd.0000000000000796openalex-snapshot
Cardiovascular Manifestations of Pseudoxanthoma Elasticum: Pathophysiology, Management, and Research
inferred← citeshttps://doi.org/10.1101/2023.12.20.572618openalex-snapshot
Discovery and characterization of novel inhibitors against ALS-related SOD1(A4V) aggregation through screening of a chemical library using Differerential Scanning Fluorimetry (DSF)
inferred← citeshttps://doi.org/10.1101/2025.03.03.641210openalex-snapshot
Titin as a mechanical damper: Balancing Stability and longevity through inter-domain linker design
inferred← citeshttps://doi.org/10.1101/2025.05.28.656654openalex-snapshot
Disease-causing mutations in the G protein β5 β-propeller disrupt its chaperonin-mediated folding trajectory
inferred← citeshttps://doi.org/10.1111/tra.12957openalex-snapshot
Fluorescent Reporters, Imaging, and Artificial Intelligence Toolkits to Monitor and Quantify Autophagy, Heterophagy, and Lysosomal Trafficking Fluxes
inferred← citeshttps://doi.org/10.1186/s13023-023-02852-wopenalex-snapshot
Congenital disorders of glycosylation: narration of a story through its patents
inferred← citeshttps://doi.org/10.1208/s12248-024-00966-yopenalex-snapshot
Best Practices for Development and Validation of Enzymatic Activity Assays to Support Drug Development for Inborn Errors of Metabolism and Biomarker Assessment
inferred← citeshttps://doi.org/10.1371/journal.pcbi.1009370openalex-snapshot
Protein structural features predict responsiveness to pharmacological chaperone treatment for three lysosomal storage disorders
inferred← citeshttps://doi.org/10.1371/journal.pgen.1011051openalex-snapshot
Genome mining yields putative disease-associated ROMK variants with distinct defects
inferred← citeshttps://doi.org/10.1371/journal.pone.0294437openalex-snapshot
Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors
inferred← citeshttps://doi.org/10.17760/d20413926openalex-snapshot
Structural and functional consequences of cross-linker-mediated stabilization of fA LS-associated SOD1
inferred← citeshttps://doi.org/10.21203/rs.3.rs-3146169/v1openalex-snapshot
The rescue potentials of OPC-41061, OPC-31260 and OPC-21268 on mutant AVPR2s that cause nephrogenic diabetes insipidus
inferred← citeshttps://doi.org/10.3345/cep.2023.00535openalex-snapshot
Development of orphan drugs for rare diseases
inferred← citeshttps://doi.org/10.3389/fmolb.2024.1383453openalex-snapshot
Protein aggregation and therapeutic strategies in SOD1- and TDP-43- linked ALS
inferred← citeshttps://doi.org/10.3389/fncel.2022.907560openalex-snapshot
Protein quality control of N-methyl-D-aspartate receptors
inferred← citeshttps://doi.org/10.3389/fped.2021.729824openalex-snapshot
Case Report: Anesthetic Management and Electrical Cardiometry as Intensive Hemodynamic Monitoring During Cheiloplasty in an Infant With Enzyme-Replaced Pompe Disease and Preserved Preoperative Cardiac Function
inferred← citeshttps://doi.org/10.3389/fphar.2022.906647openalex-snapshot
Therapeutic Strategies For Tay-Sachs Disease
inferred← citeshttps://doi.org/10.3389/fphar.2024.1335058openalex-snapshot
Exploring the efficacy and safety of Ambroxol in Gaucher disease: an overview of clinical studies
inferred← citeshttps://doi.org/10.3390/biom12070968openalex-snapshot
Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment
inferred← citeshttps://doi.org/10.3390/biom13081227openalex-snapshot
Therapeutic Role of Pharmacological Chaperones in Lysosomal Storage Disorders: A Review of the Evidence and Informed Approach to Reclassification
inferred← citeshttps://doi.org/10.3390/cells11030319openalex-snapshot
Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems
inferred← citeshttps://doi.org/10.3390/cells13030217openalex-snapshot
Putative Roles and Therapeutic Potential of the Chaperone System in Amyotrophic Lateral Sclerosis and Multiple Sclerosis
inferred← citeshttps://doi.org/10.3390/cells13211774openalex-snapshot
Endoplasmic Reticulum Stress in Bronchopulmonary Dysplasia: Contributor or Consequence?
inferred← citeshttps://doi.org/10.3390/cells14181447openalex-snapshot
Beneficial Handling of Molecular Chaperones (Chaperonotherapy) in Glioblastoma and Neuroblastoma: Novel Therapeutic Targets or Potential Agents?
inferred← citeshttps://doi.org/10.3390/cells9020477openalex-snapshot
Succinic Semialdehyde Dehydrogenase Deficiency: An Update
inferred← citeshttps://doi.org/10.3390/diagnostics11101779openalex-snapshot
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review
inferred← citeshttps://doi.org/10.3390/genes15030290openalex-snapshot
Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat
inferred← citeshttps://doi.org/10.3390/ijms21176213openalex-snapshot
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies
inferred← citeshttps://doi.org/10.3390/ijms21207536openalex-snapshot
Pharmacological Chaperones Attenuate the Development of Opioid Tolerance
inferred← citeshttps://doi.org/10.3390/ijms22020675openalex-snapshot
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators
inferred← citeshttps://doi.org/10.3390/ijms22126518openalex-snapshot
Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease
inferred← citeshttps://doi.org/10.3390/ijms22126539openalex-snapshot
Unravelling the Complex Denaturant and Thermal-Induced Unfolding Equilibria of Human Phenylalanine Hydroxylase
inferred← citeshttps://doi.org/10.3390/ijms22147663openalex-snapshot
X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis
inferred← citeshttps://doi.org/10.3390/ijms23031887openalex-snapshot
Chaperone Therapy in Fabry Disease
inferred← citeshttps://doi.org/10.3390/ijms23073536openalex-snapshot
Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol
inferred← citeshttps://doi.org/10.3390/ijms23095105openalex-snapshot
Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones
inferred← citeshttps://doi.org/10.3390/ijms24021095openalex-snapshot
Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease
inferred← citeshttps://doi.org/10.3390/ijms24054548openalex-snapshot
Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy
inferred← citeshttps://doi.org/10.3390/ijms241411858openalex-snapshot
A FRET-Based Assay for the Identification of PCNA Inhibitors
inferred← citeshttps://doi.org/10.3390/ijms241713158openalex-snapshot
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
inferred← citeshttps://doi.org/10.3390/ijms251910466openalex-snapshot
Defects in the Maturation of Mitochondrial Iron–Sulfur Proteins: Biophysical Investigation of the MMDS3 Causing Gly104Cys Variant of IBA57
inferred← citeshttps://doi.org/10.3390/ijms26010053openalex-snapshot
Beyond Misfolding: A New Paradigm for the Relationship Between Protein Folding and Aggregation
inferred← citeshttps://doi.org/10.3390/ijms26030888openalex-snapshot
Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study
inferred← citeshttps://doi.org/10.3390/ijms26136448openalex-snapshot
Mesenchymal Stem Cell-Derived Extracellular Vesicles: Seeking into Cell-Free Therapies for Bone-Affected Lysosomal Storage Disorders
inferred← citeshttps://doi.org/10.3390/ijms26199619openalex-snapshot
Missense Variants in Nutrition-Related Genes: A Computational Study
inferred← citeshttps://doi.org/10.3390/jcm12052030openalex-snapshot
Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia
inferred← citeshttps://doi.org/10.3390/jcm13072067openalex-snapshot
Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review
inferred← citeshttps://doi.org/10.3390/life12040583openalex-snapshot
Factors That Contribute to hIAPP Amyloidosis in Type 2 Diabetes Mellitus
inferred← citeshttps://doi.org/10.3390/molecules25143145openalex-snapshot
Second-Generation Pharmacological Chaperones: Beyond Inhibitors
inferred← citeshttps://doi.org/10.3390/molecules26196061openalex-snapshot
Simulation of the Interactions of Arginine with Wild-Type GALT Enzyme and the Classic Galactosemia-Related Mutant p.Q188R by a Computational Approach
inferred← citeshttps://doi.org/10.3390/molecules26237223openalex-snapshot
Pharmacological Chaperone Therapy for Pompe Disease
inferred← citeshttps://doi.org/10.3390/molecules30102222openalex-snapshot
Exploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase
inferred← citeshttps://doi.org/10.3390/neurolint17070098openalex-snapshot
Advances in Diagnosis, Pathological Mechanisms, Clinical Impact, and Future Therapeutic Perspectives in Tay–Sachs Disease
inferred← citeshttps://doi.org/10.3390/nu15010010openalex-snapshot
The Importance of Neonatal Screening for Galactosemia
inferred← citeshttps://doi.org/10.3390/ph15070823openalex-snapshot
GCase Enhancers: A Potential Therapeutic Option for Gaucher Disease and Other Neurological Disorders
inferred← citeshttps://doi.org/10.3390/ph17101286openalex-snapshot
Discovery of Novel Inhibitors against ALS-Related SOD1(A4V) Aggregation through the Screening of a Chemical Library Using Differential Scanning Fluorimetry (DSF)
inferred← citeshttps://doi.org/10.3390/pharmaceutics15020704openalex-snapshot
Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach
inferred← citeshttps://doi.org/10.3390/sci8090239openalex-snapshot
Global Landscape of SLC37A4 Variants and Their Potential Amenability to Pharmacological Chaperone Therapy in Glycogen Storage Disease Type Ib
inferred← citeshttps://doi.org/10.37871/jbres1843openalex-snapshot
Application of Proteostasis Regulators in GABAA Receptor Misfolding Diseases
inferred← citeshttps://doi.org/10.4103/ijnpnd.ijnpnd_241_25openalex-snapshot
Molecular and Technological Advances in the Treatment of Protein Misfolding Disorders
inferred← citeshttps://doi.org/10.52586/5056openalex-snapshot
Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach
inferred← citeshttps://doi.org/10.6084/m9.figshare.24054312openalex-snapshot
Additional file 1 of Congenital disorders of glycosylation: narration of a story through its patents
inferred← citeshttps://doi.org/10.6084/m9.figshare.24054318openalex-snapshot
Additional file 2 of Congenital disorders of glycosylation: narration of a story through its patents
inferred← citeshttps://doi.org/10.6084/m9.figshare.24054321openalex-snapshot
Additional file 3 of Congenital disorders of glycosylation: narration of a story through its patents
inferred← citeshttps://doi.org/10.6084/m9.figshare.24054324openalex-snapshot
Additional file 4 of Congenital disorders of glycosylation: narration of a story through its patents
inferred← citeshttps://doi.org/10.6084/m9.figshare.24054330openalex-snapshot
Additional file 5 of Congenital disorders of glycosylation: narration of a story through its patents
inferred← citeshttps://doi.org/10.70675/04691c13z0d3bz41f4z97f1z51156554ad16openalex-snapshot
Mise au point d'inhibiteurs rationnels de l'enzyme OGT à base d'iminosucres
inferred← citeshttps://doi.org/10.7499/j.issn.1008-8830.2209049openalex-snapshot
[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].
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