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Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients
Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders characterized by cognitive and behavioral impairments. Heterozygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN...
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| Publicado en: | Hum Mol Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Oxford University Press
2017
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886207/ https://ncbi.nlm.nih.gov/pubmed/29036611 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx364 |
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