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Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late infantile neuronal ceroid lipofuscinosis
Classical late-infantile neuronal ceroid lipofuscinosis (LINCL) is a hereditary neurodegenerative disease of childhood that is caused by mutations in the gene (CLN2) encoding the lysosomal protease tripeptidyl-peptidase I (TPPI). LINCL is fatal and there is no treatment of demonstrated efficacy in a...
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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2008
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2467442/ https://ncbi.nlm.nih.gov/pubmed/18343701 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2008.01.014 |
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