In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts

Mucolipidosis II and III (MLII and MLIII) are autosomal recessive diseases caused by pathogenic variants in GNPTAB and GNPTG genes that lead to defects in GlcNAc-1-phosphotransferase. This enzyme adds mannose 6-phosphate residues to lysosomal hydrolases, which allows enzymes to enter lysosomes. Defe...

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Detalles Bibliográficos
Autores principales: Sperb-Ludwig, Fernanda, Ludwig, Nataniel Floriano, Rizowy, Gustavo Mottin, Velho, Renata Voltolini, Schwartz, Ida Vanessa Doederlein
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2023
Materias:
60 years of the PPGBM UFRGS - Special Issue
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694850/
https://www.ncbi.nlm.nih.gov/pubmed/38047750
http://dx.doi.org/10.1590/1678-4685-GMB-2023-0117

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694850/
https://www.ncbi.nlm.nih.gov/pubmed/38047750
http://dx.doi.org/10.1590/1678-4685-GMB-2023-0117

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