Recombinant human alpha-N-acetylglucosamine-6-sulfatase delivered to Sanfilippo D mice with repeated intracerebroventricular injections corrects CNS pathology.

Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo D) is caused by biallelic pathogenic variants in N-acetylglucosamine-6-sulfatase (GNS), which participates in catabolism of heparan sulfate (HS) glycosaminoglycans. Characterization of MPS IIID disease at a cellular level has not been robustly ac...

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Bibliografische Detailangaben

Hauptverfasser:	Grant L Austin, Feng Wang, Steven Q Le, Alexander Sorensen, Shan Li, Lai C Foong, Srikanth Singamsetty, Jill Wood, Tsui-Fen Chou, Patricia I Dickson
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Public Library of Science (PLoS) 2025-01-01
Schriftenreihe:	PLoS ONE
Online-Zugang:	https://doi.org/10.1371/journal.pone.0328941
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