Загрузка...

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...

Полное описание

Сохранить в:
Библиографические подробности
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
Предметы:
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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!