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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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| Publicat a: | Hum Mol Genet |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Oxford University Press
2020
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| Matèries: | |
| Accés en línia: | 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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