Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.

  title={Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.},
  author={Thomas Lemonnier and Stéphane Blanchard and Diana Toli and Elise Roy and St{\'e}phanie Bigou and Roseline Froissart and Isabelle Rouvet and Sandrine Vitry and Jean Michel Heard and Delphine Bohl},
  journal={Human molecular genetics},
  volume={20 18},
By providing access to affected neurons, human induced pluripotent stem cells (iPSc) offer a unique opportunity to model human neurodegenerative diseases. We generated human iPSc from the skin fibroblasts of children with mucopolysaccharidosis type IIIB. In this fatal lysosomal storage disease, defective α-N-acetylglucosaminidase interrupts the degradation of heparan sulfate (HS) proteoglycans and induces cell disorders predominating in the central nervous system, causing relentless progression… 

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