Progranulin mutations result in impaired processing of prosaposin and reduced glucocerebrosidase activity

Frontotemporal dementia (FTD) is a common neurogenerative disorder characterized by progressive degeneration in the frontal and temporal lobes. Heterozygous mutations in the gene encoding progranulin (PGRN) are a common genetic cause of FTD. Recently, PGRN has emerged as an important regulator of ly...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Valdez, Clarissa, Ysselstein, Daniel, Young, Tiffany J, Zheng, Jianbin, Krainc, Dimitri
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2020
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General Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7104673/
https://ncbi.nlm.nih.gov/pubmed/31600775
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz229
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