Cargando…

Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report

BACKGROUND: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A. CASE SUMMARY: Herein, we analyzed a four-generation Chinese family. The proband is a 57-year-old woman who was diagnosed with left ventricular hypertrophy and atrial fi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Fu, An-Yi, Jin, Qi-Zhi, Sun, Ya-Xun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8790442/ https://www.ncbi.nlm.nih.gov/pubmed/35127921 http://dx.doi.org/10.12998/wjcc.v10.i3.1067

Ejemplares similares

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease
por: Wu, Yuan, et al.
Publicado: (2018)

A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease
por: Li, Ping, et al.
Publicado: (2019)

Optimizing human α-galactosidase for treatment of Fabry disease
por: Hallows, William C., et al.
Publicado: (2023)

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)
por: Hůlková, Helena, et al.
Publicado: (2010)

A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations
por: Kim, Dae Hun, et al.
Publicado: (2013)

Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease
por: Modrego, Andrea, et al.
Publicado: (2021)

Receptor-Mediated Endocytosis of α-Galactosidase A in Human Podocytes in Fabry Disease
por: Prabakaran, Thaneas, et al.
Publicado: (2011)

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

Rats deficient in α-galactosidase A develop ocular manifestations of Fabry disease
por: Miller, James J., et al.
Publicado: (2019)

α-Galactosidase A Augmentation by Non-Viral Gene Therapy: Evaluation in Fabry Disease Mice
por: Rodríguez-Castejón, Julen, et al.
Publicado: (2021)

Systemic Treatment of Fabry Disease Using a Novel AAV9 Vector Expressing α-Galactosidase A
por: Biferi, Maria Grazia, et al.
Publicado: (2020)

Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
por: Shabbeer, Junaid, et al.
Publicado: (2006)

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)

Mutation patterns in human α-galactosidase A
por: Yan, Shaomin, et al.
Publicado: (2009)

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

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
por: Lukas, Jan, et al.
Publicado: (2013)

Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients
por: Keslová-Veselíková, Jana, et al.
Publicado: (2008)

α-Galactosidase a Deficiency in Fabry Disease Leads to Extensive Dysregulated Cellular Signaling Pathways in Human Podocytes
por: Jehn, Ulrich, et al.
Publicado: (2021)

Reduced α-galactosidase A activity in zebrafish (Danio rerio) mirrors distinct features of Fabry nephropathy phenotype
por: Elsaid, Hassan O.A., et al.
Publicado: (2022)

Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice
por: Shen, Jin-Song, et al.
Publicado: (2015)

Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease
por: Zhou, Chi, et al.
Publicado: (2018)

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)

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

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease
por: Sueoka, Hideaki, et al.
Publicado: (2015)

Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy
por: Nakano, Sachie, et al.
Publicado: (2015)

Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort
por: Maruyama, Hiroki, et al.
Publicado: (2021)

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

Affective and cognitive behavior in the alpha-galactosidase A deficient mouse model of Fabry disease
por: Hofmann, Lukas, et al.
Publicado: (2017)

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant
por: Lenders, Malte, et al.
Publicado: (2016)

Inhibition of Arachidonate 12/15-Lipoxygenase Improves α-Galactosidase Efficacy in iPSC-Derived Cardiomyocytes from Fabry Patients
por: Chien, Yueh, et al.
Publicado: (2018)

Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles
por: Oder, Daniel, et al.
Publicado: (2016)

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)

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

New α-galactosidase-inhibiting aminohydroxycyclopentanes
por: Weber, Patrick, et al.
Publicado: (2021)

Fabry disease. A potential pitfall A family with a novel intronic mutation
por: Cabrera, Gustavo, 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)

Multifocal White Matter Lesions Associated with the D313Y Mutation of the α-Galactosidase A Gene
por: Lenders, Malte, et al.
Publicado: (2013)

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)

Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity
por: Yang, Chi-Fan, et al.
Publicado: (2010)

Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease
por: van der Veen, Sanne J., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_bigfejk9qfdiom6o5ik5hd7e9p