Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease

Mucopolysaccharidosis IVA is an autosomal recessive disorder caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme required for the stepwise degradation of keratan sulfate (KS) and chondroitin-6-sulfate (C6S). To generate a model for studies of the pathophys...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human molecular genetics 2003-12, Vol.12 (24), p.3349-3358
Hauptverfasser:	Tomatsu, Shunji, Orii, Koji O., Vogler, Carole, Nakayama, Jun, Levy, Beth, Grubb, Jeffrey H., Gutierrez, Monica A., Shim, Soomin, Yamaguchi, Seiji, Nishioka, Tatsuo, Montaño, Adriana Maria, Noguchi, Akihiko, Orii, Tadao, Kondo, Naomi, Sly, William S.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Biological and medical sciences Chimera chondroitin-6-sulfate Chondroitinsulfatases - deficiency Chondroitinsulfatases - genetics Classical genetics, quantitative genetics, hybrids Disease Models, Animal Fundamental and applied biological sciences. Psychology Galns gene Gene Targeting Genetics of eukaryotes. Biological and molecular evolution glycosaminoglycans Human keratan sulfate Mice Mice, Knockout Mucopolysaccharidosis IV - genetics Mucopolysaccharidosis IV - pathology N-acetylgalactosamine-6-sulfate sulfatase Phenotype Recombination, Genetic Stem Cells
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!