Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype

The adult form of Sandhoff disease with the motor neuron disease phenotype is a rare neurodegenerative disorder caused by mutations in HEXB encoding the β-subunit of β-hexosaminidase, yet the properties of mutant β-subunits of the disease have not been fully determined. We identified a novel mutatio...

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Hlavní autoři: Yamada, Kenichiro, Takado, Yuhei, Kato, Yusuke S., Yamada, Yasukazu, Ishiguro, Hideaki, Wakamatsu, Nobuaki
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2013
Témata:
Regular Papers
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3528005/
https://ncbi.nlm.nih.gov/pubmed/23127958
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jb/mvs131
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