Cargando…

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

Fabry disease is one of the most common lysosomal storage disorders caused by mutations in the gene encoding lysosomal α-galactosidase A (α-Gal A) and resultant accumulation of glycosphingolipids. The sugar mimetic 1-deoxygalactonojirimycin (DGJ), an orally available pharmacological chaperone, was c...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lukas, Jan, Cimmaruta, Chiara, Liguori, Ludovica, Pantoom, Supansa, Iwanov, Katharina, Petters, Janine, Hund, Christina, Bunschkowski, Maik, Hermann, Andreas, Cubellis, Maria Vittoria, Rolfs, Arndt
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7037350/ https://www.ncbi.nlm.nih.gov/pubmed/32023956 http://dx.doi.org/10.3390/ijms21030956

Ejemplares similares

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)

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

A thermodynamic assay to test pharmacological chaperones for Fabry disease()
por: Andreotti, Giuseppina, et al.
Publicado: (2014)

Direct Interaction of ATP7B and LC3B Proteins Suggests a Cooperative Role of Copper Transportation and Autophagy
por: Pantoom, Supansa, et al.
Publicado: (2021)

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)

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test
por: Feng, Xiao, et al.
Publicado: (2019)

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

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

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

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

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)

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

Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors
por: Schitter, Georg, et al.
Publicado: (2010)

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)

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)

Mechanistic Insight into the Mode of Action of Acid β-Glucosidase Enhancer Ambroxol
por: Pantoom, Supansa, et al.
Publicado: (2022)

In Vitro and In Vivo Amenability to Migalastat in Fabry Disease
por: Lenders, Malte, et al.
Publicado: (2020)

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

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

Assessment of FDA-Approved Drugs as a Therapeutic Approach for Niemann-Pick Disease Type C1 Using Patient-Specific iPSC-Based Model Systems
por: Völkner, Christin, et al.
Publicado: (2022)

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

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

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

The effects of the surface-exposed residues on the binding and hydrolytic activities of Vibrio carchariae chitinase A
por: Pantoom, Supansa, et al.
Publicado: (2008)

Substrate binding modes and anomer selectivity of chitinase A from Vibrio harveyi
por: Suginta, Wipa, et al.
Publicado: (2009)

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease
por: Schiffmann, Raphael, et al.
Publicado: (2019)

Elucidation of the anti-autophagy mechanism of the Legionella effector RavZ using semisynthetic LC3 proteins
por: Yang, Aimin, et al.
Publicado: (2017)

Distinct Mechanisms for Processing Autophagy Protein LC3‐PE by RavZ and ATG4B
por: Yang, Aimin, et al.
Publicado: (2020)

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

Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
por: Samuelsson, Kristin, et al.
Publicado: (2014)

Bioinformatics tools for marine biotechnology: a practical tutorial with a metagenomic approach
por: Liguori, Ludovica, et al.
Publicado: (2020)

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
por: Germain, Dominique P., et al.
Publicado: (2019)

Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat
por: Braunstein, Hila, et al.
Publicado: (2020)

Continuous Cardiac Troponin I Release in Fabry Disease
por: Feustel, Andreas, et al.
Publicado: (2014)

Amenability
por: Paterson, Alan LT
Publicado: (2014)

Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?
por: Böttcher, Tobias, et al.
Publicado: (2013)

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)

Persistent increase in cardiac troponin I in Fabry disease: a case report
por: Tanislav, Christian, et al.
Publicado: (2011)

The amen corner /
por: Baldwin, James, 1924-1987
Publicado: (1990)

Lectures on amenability
por: Runde, Volker
Publicado: (2002)

Cannot write session to /tmp/vufind_sessions/sess_j8426ctll5d1ak17ess4gaeeee