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Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I

Mucopolysaccharidosis type I (MPS I) is caused by deficiency of α-l-iduronidase (IDUA), a lysosomal enzyme involved in the breakdown and recycling of glycosaminoglycans (GAGs). Although enzyme replacement therapy is available, the efficacy of the treatment for neuropathic manifestations is limited....

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Podrobná bibliografie
Vydáno v:Hum Mol Genet
Hlavní autoři: Swaroop, Manju, Brooks, Matthew J, Gieser, Linn, Swaroop, Anand, Zheng, Wei
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6454448/
https://ncbi.nlm.nih.gov/pubmed/30052969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy259
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