The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

@article{Schmiedt2010TheNC,
  title={The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.},
  author={Mia-Lisa Schmiedt and Carlos J P Bessa and Claudia Heine and Maria Gil Ribeiro and Anu Jalanko and Aija Kytt{\"a}l{\"a}},
  journal={Human mutation},
  year={2010},
  volume={31 3},
  pages={
          356-65
        }
}
Neuronal ceroid lipofuscinoses (NCLs) represent a group of children's inherited neurodegenerative disorders caused by mutations in at least eight different genes. Mutations in the CLN5 gene result in the Finnish variant late infantile NCL characterized by gradual loss of vision, epileptic seizures, and mental deterioration. The CLN5 gene encodes a lysosomal glycoprotein of unidentified function. In this study, we have used both transient and stable expression systems for the characterization of… CONTINUE READING
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