Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identif...
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target
About this item
Full title
Author / Creator
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. and Sands, Mark S.
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
More information
Scope and Contents
Contents
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 suggested that psychosine is synthesized via an an...
Alternative Titles
Full title
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6778236
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6778236
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.1912108116
