An in vitro model of fabry disease

Fabry disease is an X-linked inherited loss of alpha-galactosidase A (alpha-Gal A). Affected patients experience complications that include neuropathy, renal failure, and cardiovascular disease. Although the genetic and biochemical basis of this sphingolipidosis is well studied, the basis for the va...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of the American Society of Nephrology 2005-09, Vol.16 (9), p.2636-2645
Hauptverfasser:	LIMING SHU, MURPHY, Hedwig S, COOLING, Laura, SHAYMAN, James A
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Galactosidase - genetics alpha-Galactosidase - pharmacology Animals Biological and medical sciences Cells, Cultured Disease Models, Animal Endothelium, Vascular - drug effects Endothelium, Vascular - metabolism Enzyme Inhibitors - pharmacology Errors of metabolism Fabry Disease - drug therapy Fabry Disease - etiology Fabry Disease - genetics Fabry Disease - metabolism Glucosyltransferases - antagonists & inhibitors Humans In Vitro Techniques Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Mice Mice, Inbred C57BL Mice, Knockout Nephrology. Urinary tract diseases Propanolamines - pharmacology Pyrrolidines - pharmacology Recombinant Proteins - pharmacology Trihexosylceramides - metabolism
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!