Cargando…

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb(3)) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb(3)). Migalastat hydrochloride (GR181413A) is a pharmacological chape...

Descripción completa

Detalles Bibliográficos
Autores principales:	Young-Gqamana, Brandy, Brignol, Nastry, Chang, Hui-Hwa, Khanna, Richie, Soska, Rebecca, Fuller, Maria, Sitaraman, Sheela A., Germain, Dominique P., Giugliani, Roberto, Hughes, Derralynn A., Mehta, Atul, Nicholls, Kathy, Boudes, Pol, Lockhart, David J., Valenzano, Kenneth J., Benjamin, Elfrida R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589404/ https://www.ncbi.nlm.nih.gov/pubmed/23472096 http://dx.doi.org/10.1371/journal.pone.0057631

Ejemplares similares

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
por: Benjamin, Elfrida R., et al.
Publicado: (2017)

Assessment of plasma lyso-Gb(3) for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
por: Bichet, Daniel G., et al.
Publicado: (2020)

Correction: Assessment of plasma lyso-Gb(3) for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
por: Bichet, Daniel G., et al.
Publicado: (2020)

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
por: Warnock, David G., et al.
Publicado: (2015)

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

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)

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
por: Bichet, Daniel G., et al.
Publicado: (2021)

Migalastat: A Review in Fabry Disease
por: McCafferty, Emma H., et al.
Publicado: (2019)

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
por: Duro, Giovanni, et al.
Publicado: (2018)

Correction to: Migalastat: A Review in Fabry Disease
por: McCafferty, Emma H., et al.
Publicado: (2019)

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

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease
por: Nowak, Albina, et al.
Publicado: (2022)

Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease
por: Nikolaenko, Valeria, et al.
Publicado: (2023)

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)

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study
por: Bichet, Daniel G., et al.
Publicado: (2023)

Monitoring globotriaosylsphingosine in a Korean male patient with Fabry disease
por: Jang, Heejoon, et al.
Publicado: (2019)

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)
por: Perrone, Alessandro, et al.
Publicado: (2021)

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
por: Johnson, Britt, et al.
Publicado: (2013)

Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes
por: Hughes, Derralynn A, et al.
Publicado: (2023)

Clinical significance of plasma globotriaosylsphingosine levels in Chinese patients with Fabry disease
por: Ouyang, Yan, et al.
Publicado: (2018)

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study
por: Hughes, Derralynn A., et al.
Publicado: (2019)

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
por: Schiffmann, Raphael, et al.
Publicado: (2018)

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)

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease
por: Tsukimura, Takahiro, et al.
Publicado: (2014)

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?
por: Tsukimura, Takahiro, et al.
Publicado: (2021)

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease
por: Taguchi, Atsumi, et al.
Publicado: (2023)

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A)
por: Liu, Hao-Chuan, et al.
Publicado: (2014)

Medication adherence in Fabry patients treated with migalastat: Real world experience
por: Riccio, Eleonora, et al.
Publicado: (2023)

Globotriaosylsphingosine Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease
por: Namdar, Mehdi, et al.
Publicado: (2012)

Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report
por: Haninger-Vacariu, Natalja, et al.
Publicado: (2019)

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease
por: Sueoka, Hideaki, et al.
Publicado: (2015)

The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain
por: Choi, L., et al.
Publicado: (2015)

Lyso-Gb3 Increases αvβ3 Integrin Gene Expression in Cultured Human Podocytes in Fabry Nephropathy
por: Trimarchi, Hernán, et al.
Publicado: (2020)

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies
por: Germain, Dominique P, et al.
Publicado: (2012)

Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment
por: Mauer, Michael, et al.
Publicado: (2017)

Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy
por: Franzen, Daniel, et al.
Publicado: (2018)

A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
por: Chinen, Yasutsugu, et al.
Publicado: (2017)

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)

Lyso-globotriaosylsphingosine induces endothelial dysfunction via autophagy-dependent regulation of necroptosis
por: Hwang, Ae-Rang, et al.
Publicado: (2023)

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis
por: Maruyama, Hiroki, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_or77m0k1hbet6a663708ubjoq8