טוען...
Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis but is not a component of the storage material
Classical late neuronal ceroid lipofuscinosis (LINCL) is a fatal neurodegenerative disease of children caused by mutations in TPP1, the gene encoding the lysosomal protease tripeptidyl peptidase 1. LINCL is characterized by lysosomal accumulation of storage material of which only a single protein co...
שמור ב:
| Main Authors: | , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2010
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2892784/ https://ncbi.nlm.nih.gov/pubmed/20370715 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20100128 |
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