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Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC
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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Dis Model Mech |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The Company of Biologists Ltd
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5047683/ https://ncbi.nlm.nih.gov/pubmed/27491071 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.025171 |
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