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Article

Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy.

Experimental neurology - 1 Sept 2015

Matthes Frank, Andersson Claes, Stein Axel, Eistrup Carl, Fogh Jens, Gieselmann Volkmar, Wenger David A, Matzner Ulrich

Abstract excerpt

An inherited deficiency of β-galactosylceramidase (GALC) causes the lysosomal storage disease globoid cell leukodystrophy (GLD). The disease is characterized by the accumulation of the cytotoxic metabolite psychosine (galactosylsphingosine), causing rapid degeneration of myelinating cells. Most patients suffer from the infantile form of GLD with onset of disease between 3 and 6 months after birth and death by 2...

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Identifiers

PMID: 25956830
DOI: 10.1016/j.expneurol.2015.04.020

Genes

GALC

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