Cargando…

Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy

Enzyme replacement therapy is the only therapeutic option for Fabry patients with completely absent AGAL activity. However, the treatment has side effects, is costly, and requires conspicuous amounts of recombinant human protein (rh-AGAL). Thus, its optimization would benefit patients and welfare/he...

Descripción completa

Detalles Bibliográficos
Autores principales:	Iacobucci, Ilaria, Hay Mele, Bruno, Cozzolino, Flora, Monaco, Vittoria, Cimmaruta, Chiara, Monti, Maria, Andreotti, Giuseppina, Monticelli, Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003632/ https://www.ncbi.nlm.nih.gov/pubmed/36901983 http://dx.doi.org/10.3390/ijms24054548

Ejemplares similares

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

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

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)

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

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)

Protein–DNA/RNA Interactions: An Overview of Investigation Methods in the -Omics Era
por: Cozzolino, Flora, et al.
Publicado: (2021)

Lysines Acetylome and Methylome Profiling of H3 and H4 Histones in Trichostatin A—Treated Stem Cells
por: Cozzolino, Flora, 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)

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)

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)

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

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)

New label-free methods for protein relative quantification applied to the investigation of an animal model of Huntington Disease
por: Cozzolino, Flora, et al.
Publicado: (2020)

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

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland
por: Nowicki, Michał, et al.
Publicado: (2021)

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

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

Spike S1 domain interactome in non-pulmonary systems: A role beyond the receptor recognition
por: Iacobucci, Ilaria, et al.
Publicado: (2022)

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

Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women
por: Monticelli, Maria, et al.
Publicado: (2021)

From the Discovery of Targets to Delivery Systems: How to Decipher and Improve the Metallodrugs’ Actions at a Molecular Level
por: Iacobucci, Ilaria, et al.
Publicado: (2023)

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

Fabry disease in children and the effects of enzyme replacement treatment
por: Pintos-Morell, Guillem, et al.
Publicado: (2009)

Cost-effectiveness of enzyme replacement therapy for Fabry disease
por: Rombach, Saskia M, et al.
Publicado: (2013)

Impact of kidney biopsy on deciding when to initiate enzyme replacement therapy in children with Fabry disease
por: Avarappattu, Jenny, et al.
Publicado: (2023)

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

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease
por: Fervenza, Fernando C, et al.
Publicado: (2008)

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
por: Moore, David F, et al.
Publicado: (2002)

Long-Term Effect of Enzyme Replacement Therapy with Fabry Disease
por: Komori, Manabu, et al.
Publicado: (2013)

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

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

Genetic variants associated with Fabry disease progression despite enzyme replacement therapy
por: Scionti, Francesca, et al.
Publicado: (2017)

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis
por: Beck, Michael, et al.
Publicado: (2015)

Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey
por: Barba-Romero, Miguel-Ángel, et al.
Publicado: (2016)

Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease
por: Kim, Il Young, et al.
Publicado: (2021)

Enzyme replacement therapy for Fabry disease: some answers but more questions
por: Alfadhel, Majid, et al.
Publicado: (2011)

Enzyme replacement therapy and white matter hyperintensity progression in Fabry disease
por: Stefaniak, James D., et al.
Publicado: (2018)

Development of Lanzyme as the Potential Enzyme Replacement Therapy Drug for Fabry Disease
por: Deng, Mulan, et al.
Publicado: (2022)

Clinical features and enzyme replacement therapy in 10 children with Fabry disease
por: Li, Qian, et al.
Publicado: (2023)

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles
por: Boutin, Michel, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_hpj4ujkik2ats2m3775grthvj6