Murine models of acute neuronopathic Gaucher disease

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...

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Detalhes bibliográficos
Main Authors: Enquist, Ida Berglin, Bianco, Christophe Lo, Ooka, Andreas, Nilsson, Eva, Månsson, Jan-Eric, Ehinger, Mats, Richter, Johan, Brady, Roscoe O., Kirik, Deniz, Karlsson, Stefan
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2007
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2077282/
https://ncbi.nlm.nih.gov/pubmed/17954912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0708086104
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