Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features

The palmitoyl protein thioesterase-2 (PPT2) gene encodes a lysosomal thioesterase homologous to PPT1, which is the enzyme defective in the human disorder called infantile neuronal ceroid lipofuscinosis. In this article, we report that PPT2 deficiency in mice causes an unusual form of neuronal ceroid...

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Main Authors: Gupta, Praveena, Soyombo, Abigail A., Shelton, John M., Wilkofsky, Ian G., Wisniewski, Krystyna E., Richardson, James A., Hofmann, Sandra L.
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2003
Teme:
Biological Sciences
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC218757/
https://ncbi.nlm.nih.gov/pubmed/14528005
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2033229100
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