Neurologic abnormalities in mouse models of the lysosomal storage disorders mucolipidosis II and mucolipidosis III γ.

UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is an α2β2γ2 hexameric enzyme that catalyzes the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. Mutations in the α/β subunit precursor gene cause the severe lysosomal storage disorder mucolipidosis I...

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Principais autores:	Rachel A Idol, David F Wozniak, Hideji Fujiwara, Carla M Yuede, Daniel S Ory, Stuart Kornfeld, Peter Vogel
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Public Library of Science (PLoS) 2014-01-01
coleção:	PLoS ONE
Acesso em linha:	http://europepmc.org/articles/PMC4196941?pdf=render
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