Article
Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.
Neurobiology of disease - 1 Jan 2009
Rodrigues L G, Ferraz M J, Rodrigues D, Pais-Vieira M, Lima D, Brady R O, Sousa M M, Sá-Miranda M C
Abstract excerpt
Fabry disease (OMIM 301500) is a rare X-linked recessive disorder caused by mutations in the alpha-galactosidase gene (GLA). Loss of alpha-galactosidase (alpha-Gal) activity leads to the abnormal accumulation of glycosphingolipids in lysosomes predominantly of vascular endothelial cells. Clinically the disorder presents with angiokeratomas, clouding of the cornea, and renal, cardiac, and cerebrovascular...
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