Results 21 to 30 of about 982 (163)

Case Report: Diagnostic challenges in Fabry disease: misinterpreted obstructive hypertrophic cardiomyopathy and the role of enzyme replacement therapy [PDF]

Frontiers in Cardiovascular Medicine
Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder. The abnormal accumulation of metabolic substrates induces inflammation and fibrosis in cells, resulting in organ dysfunction.
Weili Cheng, Mingqiang Ao, Dinghu Xu, Yuqing Zhang, Qin Tao   +4 more
doaj   +2 more sources

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.

PLoS ONE, 2015
Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme.
Hideaki Sueoka, Mikio Aoki, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba   +4 more
doaj   +2 more sources

Elevated globotriaosylsphingosine is a hallmark of Fabry disease [PDF]

Proceedings of the National Academy of Sciences, 2008
Fabry disease is an X-linked lysosomal storage disease caused by deficiency of α-galactosidase A that affects males and shows disease expression in heterozygotes. The characteristic progressive renal insufficiency, cardiac involvement, and neuropathology usually are ascribed to globotriaosylceramide accumulation in the endothelium.
Johannes M. F. G. Aerts, J.E.M. Groener, Sijmen Kuiper, Wilma E. Donker‐Koopman, Anneke Strijland, Roelof Ottenhoff, Cindy van Roomen, Mina Mirzaian, Frits A. Wijburg, Gabor E. Linthorst, Anouk C. Vedder, Saskia M. Rombach, Josanne Cox‐Brinkman, Pentti Somerharju, Rolf G. Boot, Carla E. M. Hollak, Roscoe O. Brady, Ben J. H. M. Poorthuis   +17 more
openalex   +4 more sources

The Role of Kidney Biopsy in Fabry Disease [PDF]

Biomedicines
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to α-galactosidase A deficiency and subsequent accumulation of glycosphingolipids, including globotriaosylceramide (Gb3) and ...
Irene Capelli, Laura Martano, Gian Marco Berti, Gisella Vischini, Sarah Lerario, Vincenzo Donadio, Alex Incensi, Valeria Aiello, Francesca Ciurli, Benedetta Fabbrizio, Stefano Chilotti, Renzo Mignani, Gianandrea Pasquinelli, Gaetano La Manna   +13 more
doaj   +2 more sources

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy [PDF]

Nephrology Dialysis Transplantation, 2010
Transforming growth factor-β1 (TGF-β1) and the macrophage inhibitory factor receptor CD74 link the metabolic disorder with tissue injury in diabetic nephropathy. Fabry disease is an X-linked lysosomal glycosphingolipid storage disorder resulting from a deficient activity of α-galactosidase A that leads to proteinuric renal injury.
María Dolores Sánchez-Niño, Ana B. Sanz, Susana Carrasco, Moin A. Saleem, Peter W. Mathieson, José Manuel Valdivielso, Marta Ruiz‐Ortega, J. Egido, Alberto Ortíz   +8 more
openalex   +5 more sources

Lyso-globotriaosylsphingosine induces endothelial dysfunction via autophagy-dependent regulation of necroptosis

The Korean Journal of Physiology & Pharmacology, 2023
Fabry disease is a lysosomal storage disorder characterized by the lysosomal accumulations of glycosphingolipids in a variety of cytotypes, which include endothelial cells. The disease is inherited and originates from an error in glycosphingolipid catabolism caused by insufficient α-galactosidase A activity, which causes uncontrolled progressive ...
Ae-Rang Hwang, Seong-Hee Park, Chang‐Hoon Woo   +2 more
openalex   +3 more sources

Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis [PDF]

Molecular Genetics and Metabolism Reports
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient or dysfunctional α-galactosidase A (AGAL) activity. Newborn screening (NBS) enables early detection and management; however,
Takaaki Sawada, Jun Kido, Takahiro Tsukimura, Keishin Sugawara, Tomoko Shiga, Seiji Saito, Tadayasu Togawa, Takahito Inoue, Yoriko Watanabe, Junpei Hamada, Hitoshi Sakuraba, Kimitoshi Nakamura   +11 more
doaj   +2 more sources

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2010
Fabry disease is an X-linked lysosomal storage disorder due to deficiency of alpha-Galactosidase A, causing accumulation of globotriaosylceramide and elevated plasma globotriaosylsphingosine (lysoGb3). The diagnostic value and clinical relevance of plasma lysoGb3 concentration was investigated.
Saskia M. Rombach, Natashe Lemos Dekker, Machtelt G. Bouwman, Gabor E. Linthorst, A. H. Zwinderman, Frits A. Wijburg, Sara Z. Kuiper, M. A. vd Bergh Weerman, J.E.M. Groener, Ben J. H. M. Poorthuis, Carla E. M. Hollak, Johannes M. F. G. Aerts   +11 more
openalex   +6 more sources

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots [PDF]

Annals of Laboratory Medicine, 2013
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be analyzed in dried blood spots (DBS) from filter cards and whether concentrations are elevated in newborn infants with FD.
Britt Johnson, Hermann Mascher, Daniel Mascher, Elisa Legnini, Christina Hung, Angéla Dajnoki, Yin‐Hsiu Chien, László Maródi, Wuh‐Liang Hwu, Olaf A. Bodamer   +9 more
openalex   +4 more sources

Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine [PDF]

Clinical Journal of the American Society of Nephrology, 2013
SummaryBackground and objectivesPrevious reports of Fabry disease screening in dialysis patients indicate thatα-galactosidase A activity alone cannot specifically and reliably identify appropriate candidates for genetic testing; a marker for secondary screening is required.
Hiroki Maruyama, Takuma Takata, Yutaka Tsubata, Ryushi Tazawa, Kiyoe Goto, Jun Tohyama, Ichiei Narita, Hidekatsu Yoshioka, Seiichi Ishii   +8 more
openalex   +4 more sources