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

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

Abstract 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 lysoso...

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Bibliographic Details
Main Authors: Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2023-12-01
Series:Genetics and Molecular Biology
Subjects:
Substrate reduction therapy
Mucolipidosis II and III
Genistein
Miglustat
Thalidomide
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600109&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600109&lng=en&tlng=en

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