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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Principais autores:	Fernanda Sperb-Ludwig, Nataniel Floriano Ludwig, Gustavo Mottin Rizowy, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Sociedade Brasileira de Genética 2023-12-01
Colecção:	Genetics and Molecular Biology
Assuntos:	Substrate reduction therapy Mucolipidosis II and III Genistein Miglustat Thalidomide
Acesso em linha:	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572023000600109&lng=en&tlng=en
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