Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.

@article{Sharifi2010ExpressionAL,
  title={Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.},
  author={Azita Sharifi and Maria M Kousi and Charlotte Sagne and Gian Carlo Bellenchi and Lydie Morel and Mich{\`e}le Darmon and Helena Hůlkov{\'a} and Raquel Ruivo and Cl{\'e}ment Debacker and Salah El Mestikawy and Milan Elleder and A-E Lehesjoki and Anu Jalanko and Bruno Gasnier and Aija Kytt{\"a}l{\"a}},
  journal={Human molecular genetics},
  year={2010},
  volume={19 22},
  pages={4497-514}
}
Neuronal ceroid lipofuscinoses (NCLs) constitute a group of progressive neurodegenerative disorders resulting from mutations in at least eight different genes. Mutations in the most recently identified NCL gene, MFSD8/CLN7, underlie a variant of late-infantile NCL (vLINCL). The MFSD8/CLN7 gene encodes a polytopic protein with unknown function, which shares homology with ion-coupled membrane transporters. In this study, we confirmed the lysosomal localization of the native CLN7 protein. This… CONTINUE READING
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A novel mutation in the MFSD 8 gene in late infantile neuronal ceroid lipofuscinosis

  • E. Stogmann, S. El Tawil, +8 authors C.
  • Neurogenetics
  • 2009

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