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Characterization of the Biosynthesis, Processing and Kinetic Mechanism of Action of the Enzyme Deficient in Mucopolysaccharidosis IIIC

Heparin acetyl-CoA:alpha-glucosaminide N-acetyltransferase (N-acetyltransferase, EC 2.3.1.78) is an integral lysosomal membrane protein containing 11 transmembrane domains, encoded by the HGSNAT gene. Deficiencies of N-acetyltransferase lead to mucopolysaccharidosis IIIC. We demonstrate that contrar...

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Detalles Bibliográficos
Autores principales: Fan, Xiaolian, Tkachyova, Ilona, Sinha, Ankit, Rigat, Brigitte, Mahuran, Don
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177862/
https://www.ncbi.nlm.nih.gov/pubmed/21957468
http://dx.doi.org/10.1371/journal.pone.0024951