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: α-glucosaminide N-acetyltransferase (HGSNAT, EC 2.3.1.78), which catalyses transmembrane acetyla...

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Detalles Bibliográficos
Autores principales: Feldhammer, Matthew, Durand, Stéphanie, Pshezhetsky, Alexey V.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2757673/
https://www.ncbi.nlm.nih.gov/pubmed/19823584
http://dx.doi.org/10.1371/journal.pone.0007434

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