Caricamento...

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

Mucopolysaccharidosis type IIIC or Sanfilippo syndrome type C (MPS IIIC, MIM #252930) is an autosomal recessive disorder caused by deficiency of the lysosomal membrane enzyme, heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT, EC 2.3.1.78), which catalyses transmembrane ace...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Matthew Feldhammer, Stéphanie Durand, Alexey V Pshezhetsky
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science (PLoS) 2009-10-01
Serie:PLoS ONE
Accesso online:http://europepmc.org/articles/PMC2757673?pdf=render
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !