Spontaneous appearance of Tay–Sachs disease in an animal model

Tay–Sachs disease (TSD) is a progressive neurodegenerative disorder due to an autosomal recessively inherited deficiency of β-hexosaminidase A (Hex A). Deficiency of Hex A in TSD is caused by a defect of the α-subunit resulting from mutations of the HEXA gene. To date, there is no effective treatmen...

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Veröffentlicht in:	Molecular genetics and metabolism 2008-09, Vol.95 (1), p.59-65
Hauptverfasser:	Zeng, B.J., Torres, P.A., Viner, T.C., Wang, Z.H., Raghavan, S.S., Alroy, J., Pastores, G.M., Kolodny, E.H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animal model Animals Avian Proteins - genetics Avian Proteins - metabolism Birds - genetics Birds - metabolism Brain - enzymology Brain - metabolism Brain - pathology Disease Models, Animal Female Gene Expression Hexosaminidase A - genetics Hexosaminidase A - metabolism Humans Lipid Metabolism Lysosomal storage disorder Male Missense mutation Mutation Phoenicopterus ruber Tay-Sachs Disease - enzymology Tay-Sachs Disease - genetics Tay-Sachs Disease - metabolism Tay-Sachs Disease - pathology Tay–Sachs disease β-Hexosaminidase A gene
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