Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Yamada, Kenichiro, Takado, Yuhei, Kato, Yusuke S., Yamada, Yasukazu, Ishiguro, Hideaki, Wakamatsu, Nobuaki
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2013
Soggetti:
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !