Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

@article{Lojewski2014HumanIM,
  title={Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.},
  author={Xenia Lojewski and John F. Staropoli and Sunita Biswas-Legrand and Alexandra M Simas and Larissa A. Haliw and Martin Karl Selig and Scott H. Coppel and Kendrick A Goss and Anton Petcherski and Uma Chandrachud and Steven D Sheridan and Diane E Lucente and Katherine Bustin Sims and James F. Gusella and D Sondhi and Ronald G. Crystal and Peter Reinhardt and Jared Sterneckert and Hans Sch{\"o}ler and Stephen J. Haggarty and Alexander Storch and A Hermann and Susan L Cotman},
  journal={Human molecular genetics},
  year={2014},
  volume={23 8},
  pages={2005-22}
}
Neuronal ceroid lipofuscinosis (NCL) comprises ∼13 genetically distinct lysosomal disorders primarily affecting the central nervous system. Here we report successful reprograming of patient fibroblasts into induced pluripotent stem cells (iPSCs) for the two most common NCL subtypes: classic late-infantile NCL, caused by TPP1(CLN2) mutation, and juvenile NCL, caused by CLN3 mutation. CLN2/TPP1- and CLN3-iPSCs displayed overlapping but distinct biochemical and morphological abnormalities within… CONTINUE READING
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