Gustavo Mottin Rizowy

No ORCID on file · 1 paper in corpus · active 2023

Study types

  • other 1
other 2023
In vitro substrate reduction, chaperone and immunomodulation treatments reduce heparan sulfate in mucolipidosis III human fibroblasts
Genetics and molecular biology ·doi:10.1590/1678-4685-GMB-2023-0117

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 lysosom…