[Learning from the studies of twitcher mouse].

Abstract excerpt

Twitcher mouse is a naturally occurring mouse model for human Krabbe disease, a lysosomal galactosyl-ceramidase deficiency. Therefore, this mouse provides us an excellent experimental model for studying the pathogenesis and effective therapies for Krabbe disease. First, we succeeded to clone cDNA of human galactosylceramidase from lymphocytes, and determined its sequence. Consequently, many mutations of Krabbe...

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