Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target

Infantile globoid cell leukodystrophy (GLD, Krabbe disease) is a fatal demyelinating disorder caused by a deficiency in the lysosomal enzyme galactosylceramidase (GALC). GALC deficiency leads to the accumulation of the cytotoxic glycolipid, galactosylsphingosine (psychosine). Complementary evidence...

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Detalhes bibliográficos
Publicado no:Proc Natl Acad Sci U S A
Main Authors: Li, Yedda, Xu, Yue, Benitez, Bruno A., Nagree, Murtaza S., Dearborn, Joshua T., Jiang, Xuntian, Guzman, Miguel A., Woloszynek, Josh C., Giaramita, Alex, Yip, Bryan K., Elsbernd, Joseph, Babcock, Michael C., Lo, Melanie, Fowler, Stephen C., Wozniak, David F., Vogler, Carole A., Medin, Jeffrey A., Crawford, Brett E., Sands, Mark S.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2019
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6778236/
https://ncbi.nlm.nih.gov/pubmed/31527255
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1912108116
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