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

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 encod...

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Bibliografische gegevens
Hoofdauteurs: Sharifi, A., Kousi, M., Sagné, C., Bellenchi, G.C., Morel, L., Darmon, M., Hůlková, H., Ruivo, R., Debacker, C., El Mestikawy, S., Elleder, M., Lehesjoki, A.-E., Jalanko, A., Gasnier, B., Kyttälä, A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2010
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Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298853/
https://ncbi.nlm.nih.gov/pubmed/20826447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq381
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