Cargando…

A thermodynamic assay to test pharmacological chaperones for Fabry disease()

BACKGROUND: The majority of the disease-causing mutations affect protein stability, but not functional sites and are amenable, in principle, to be treated with pharmacological chaperones. These drugs enhance the thermodynamic stability of their targets. Fabry disease, a disorder caused by mutations...

Descripción completa

Detalles Bibliográficos
Autores principales:	Andreotti, Giuseppina, Citro, Valentina, Correra, Antonella, Cubellis, Maria Vittoria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier Pub. Co 2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3909460/ https://www.ncbi.nlm.nih.gov/pubmed/24361605 http://dx.doi.org/10.1016/j.bbagen.2013.12.018

Ejemplares similares

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
por: Andreotti, Giuseppina, et al.
Publicado: (2011)

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
por: Cammisa, Marco, et al.
Publicado: (2013)

Drug repositioning can accelerate discovery of pharmacological chaperones
por: Hay Mele, Bruno, et al.
Publicado: (2015)

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
por: Andreotti, Giuseppina, et al.
Publicado: (2010)

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease
por: Citro, Valentina, et al.
Publicado: (2016)

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones
por: Monticelli, Maria, et al.
Publicado: (2022)

The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations
por: Citro, Valentina, et al.
Publicado: (2016)

Identification and analysis of conserved pockets on protein surfaces
por: Cammisa, Marco, et al.
Publicado: (2013)

Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations
por: Liguori, Ludovica, et al.
Publicado: (2020)

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease
por: Lukas, Jan, et al.
Publicado: (2020)

Heterodimerization of Two Pathological Mutants Enhances the Activity of Human Phosphomannomutase2
por: Andreotti, Giuseppina, et al.
Publicado: (2015)

E-Learning for Rare Diseases: An Example Using Fabry Disease
por: Cimmaruta, Chiara, et al.
Publicado: (2017)

Pharmacological chaperone therapy for Fabry disease
por: ISHII, Satoshi
Publicado: (2012)

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
por: Monticelli, Maria, et al.
Publicado: (2019)

A mutant of phosphomannomutase1 retains full enzymatic activity, but is not activated by IMP: Possible implications for the disease PMM2-CDG
por: Citro, Valentina, et al.
Publicado: (2017)

Looking for protein stabilizing drugs with thermal shift assay
por: Andreotti, Giuseppina, et al.
Publicado: (2015)

Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase
por: Cimmaruta, Chiara, et al.
Publicado: (2018)

Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease
por: Monticelli, Maria, et al.
Publicado: (2023)

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease
por: Seemann, Susanne, et al.
Publicado: (2020)

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers
por: Citro, Valentina, et al.
Publicado: (2018)

Taming molecular flexibility to tackle rare diseases
por: Cubellis, Maria Vittoria, et al.
Publicado: (2015)

Chaperone Therapy in Fabry Disease
por: Weidemann, Frank, et al.
Publicado: (2022)

Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor
por: Furlan, Federico, et al.
Publicado: (2019)

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation
por: Andreotti, Giuseppina, et al.
Publicado: (2013)

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models
por: Besada, Pedro, et al.
Publicado: (2021)

Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy
por: Iacobucci, Ilaria, et al.
Publicado: (2023)

A Pharmacogenetic Approach to Identify Mutant Forms of α-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease
por: Wu, Xiaoyang, et al.
Publicado: (2011)

In silico docking of urokinase plasminogen activator and integrins
por: Degryse, Bernard, et al.
Publicado: (2008)

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19
por: Monticelli, Maria, et al.
Publicado: (2021)

Congenital disorders of glycosylation: narration of a story through its patents
por: Monticelli, Maria, et al.
Publicado: (2023)

Treatment of hypertrophic cardiomyopathy caused by cardiospecific variants of Fabry disease with chaperone therapy
por: Müntze, Jonas, et al.
Publicado: (2018)

Conformational Response to Ligand Binding in Phosphomannomutase2: INSIGHTS INTO INBORN GLYCOSYLATION DISORDER
por: Andreotti, Giuseppina, et al.
Publicado: (2014)

Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice
por: Xu, Su, et al.
Publicado: (2015)

Thermodynamic insights into histone transfer among chaperones
por: Liu, Wallace H, et al.
Publicado: (2013)

Pharmacological Chaperone Therapy for Pompe Disease
por: Borie-Guichot, Marc, et al.
Publicado: (2021)

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts
por: Porto, Caterina, et al.
Publicado: (2009)

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
por: Hughes, Derralynn A, et al.
Publicado: (2017)

Correction: Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
Publicado: (2018)

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice
por: Benjamin, Elfrida R, et al.
Publicado: (2012)

Azasugar inhibitors as pharmacological chaperones for Krabbe disease
por: Hill, Chris H., et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_ci64631e9etdk6kap2taeqvett