Murine models of acute neuronopathic Gaucher disease.
AuthorsEnquist IB, Bianco CL, Ooka A, Nilsson E, Månsson JE, Ehinger M, Richter J, Brady RO, Kirik D, Karlsson S,
JournalProc Natl Acad Sci U S A
PubMed ID17954912
'Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the glucosidase, beta, acid (GBA) gene that encodes the lysosomal enzyme glucosylceramidase (GCase). GCase deficiency leads to characteristic visceral pathology and, in some patients, lethal neurological manifestations. Here, we report the generation of mouse models with ... More