Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

@article{Jrvel1999DefectiveIT,
  title={Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)},
  author={Irma E. J{\"a}rvel{\"a} and Mikko Lehtovirta and Ritva Tikkanen and Aija Kytt{\"a}l{\"a} and Anu Jalanko},
  journal={Human molecular genetics},
  year={1999},
  volume={8 6},
  pages={1091-8}
}
Batten disease [juvenile-onset neuronal ceroid lipofuscinosis (JNCL)], the most common progressive encephalopathy of childhood, is caused by mutations in a novel lysosomal membrane protein (CLN3) with unknown function. In this study, we have confirmed the lysosomal localization of the CLN3 protein by immunoelectron microscopy by co-localizing it with soluble and membrane-associated lysosomal proteins. We have analysed the intracellular processing and localization of two mutants, 461-677del… CONTINUE READING
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Delayed classical and protracted phenotype of compound heterozygous juvenile

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Delayed classical and protracted phenotype of compound heterozygous juvenile NCL

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