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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Главные авторы: Sleat, David E., El-Banna, Mukarram, Sohar, Istvan, Kim, Kwi-Hye, Dobrenis, Kostantin, Walkley, Steven U., Lobel, Peter
Формат: Artigo
Язык:Inglês
Опубликовано: 2008
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Article
Online-ссылка: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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