Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

Sanfilippo syndrome type B (mucopolysaccharidosis III B, MPS III B) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia. The primary cause is mutation in the NAGLU gene, resulting in deficiency of α-N-acetylglucosaminidase and l...

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Bibliographische Detailangaben
Hauptverfasser: Ohmi, Kazuhiro, Kudo, Lili C., Ryazantsev, Sergey, Zhao, Hui-Zhi, Karsten, Stanislav L., Neufeld, Elizabeth F.
Format: Artigo
Sprache:Inglês
Veröffentlicht: National Academy of Sciences 2009
Schlagworte:
Biological Sciences
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2677546/
https://ncbi.nlm.nih.gov/pubmed/19416848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0903223106
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