Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC

• Main Authors: Sara Marcó (Author), Anna Pujol (Author), Carles Roca (Author), Sandra Motas (Author), Albert Ribera (Author), Miguel Garcia (Author), Maria Molas (Author), Pilar Villacampa (Author), Cristian S. Melia (Author), Víctor Sánchez (Author), Xavier Sánchez (Author), Joan Bertolin (Author), Jesús Ruberte (Author), Virginia Haurigot (Author), Fatima Bosch (Author)
• Format: Book
• Published: The Company of Biologists, 2016-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Mucopolysaccharidosis type IIIC (MPSIIIC) is a severe lysosomal storage disease caused by deficiency in activity of the transmembrane enzyme heparan-α-glucosaminide N-acetyltransferase (HGSNAT) that catalyses the N-acetylation of α-glucosamine residues of heparan sulfate. Enzyme deficiency causes ab...