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Glucosamine amends CNS pathology in mucopolysaccharidosis IIIC mouse expressing misfolded HGSNAT

The majority of mucopolysaccharidosis IIIC (MPS IIIC) patients have missense variants causing misfolding of heparan sulfate acetyl-CoA:α-glucosaminide N-acetyltransferase (HGSNAT), which are potentially treatable with pharmacological chaperones. To test this approach, we generated a novel Hgsnat(P30...

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Detalles Bibliográficos
Autores principales:	Pan, Xuefang, Taherzadeh, Mahsa, Bose, Poulomee, Heon-Roberts, Rachel, Nguyen, Annie L.A., Xu, TianMeng, Pará, Camila, Yamanaka, Yojiro, Priestman, David A., Platt, Frances M., Khan, Shaukat, Fnu, Nidhi, Tomatsu, Shunji, Morales, Carlos R., Pshezhetsky, Alexey V.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Rockefeller University Press 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204472/ https://www.ncbi.nlm.nih.gov/pubmed/35704026 http://dx.doi.org/10.1084/jem.20211860

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