Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis

PPT1-related neuronal ceroid lipofuscinosis (NCL) is a lysosomal storage disorder caused by deficiency in a soluble lysosomal enzyme, palmitoyl-protein thioesterase-1 (PPT1). Enzyme replacement therapy (ERT) has not been previously examined in a preclinical animal model. Homozygous PPT1 knockout mic...

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Main Authors: Hu, Jie, Lu, Jui-Yun, Wong, Andrew M.S., Hynan, Linda S., Birnbaum, Shari G., Yilmaz, Denis S., Streit, Barbara M., Lenartowicz, Ewelina M., Thompson, Thomas C.M., Cooper, Jonathan D., Hofmann, Sandra L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3444630/
https://ncbi.nlm.nih.gov/pubmed/22704978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2012.05.009
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