Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons

Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by deficient β-glucuronidase (β-gluc) activity. Significantly reduced β-gluc activity leads to accumulation of glycosaminoglycans (GAGs) in many tissues, including the brain. Numerous combinations of mutations in GUSB (th...

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Udgivet i:Sci Rep
Main Authors: Bayó-Puxan, Neus, Terrasso, Ana Paula, Creyssels, Sophie, Simão, Daniel, Begon-Pescia, Christina, Lavigne, Marina, Salinas, Sara, Bernex, Florence, Bosch, Assumpció, Kalatzis, Vasiliki, Levade, Thierry, Cuervo, Ana Maria, Lory, Philippe, Consiglio, Antonella, Brito, Catarina, Kremer, Eric J.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6226539/
https://ncbi.nlm.nih.gov/pubmed/30413728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-34523-3
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