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...

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Bibliografiska uppgifter
Huvudupphovsmän: Matthew Feldhammer, Stéphanie Durand, Alexey V Pshezhetsky
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science (PLoS) 2009-10-01
Serie:PLoS ONE
Länkar:http://europepmc.org/articles/PMC2757673?pdf=render
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