Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts

GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively. These diseases are associated with excessive a...

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Detalles Bibliográficos
Autores principales: Kitakaze, Keisuke, Tasaki, Chikako, Tajima, Youichi, Hirokawa, Takatsugu, Tsuji, Daisuke, Sakuraba, Hitoshi, Itoh, Kohji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613250/
https://www.ncbi.nlm.nih.gov/pubmed/28955902
http://dx.doi.org/10.1016/j.bbrep.2016.04.012

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