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Progranulin deficiency leads to reduced glucocerebrosidase activity
Mutation in the GRN gene, encoding the progranulin (PGRN) protein, shows a dose-dependent disease correlation, wherein haploinsufficiency results in frontotemporal lobar degeneration (FTLD) and complete loss results in neuronal ceroid lipofuscinosis (NCL). Although the exact function of PGRN is unkn...
Autores principales: | Zhou, Xiaolai, Paushter, Daniel H., Pagan, Mitchell D., Kim, Dongsung, Nunez Santos, Mariela, Lieberman, Raquel L., Overkleeft, Herman S., Sun, Ying, Smolka, Marcus B., Hu, Fenghua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619604/ https://www.ncbi.nlm.nih.gov/pubmed/31291241 http://dx.doi.org/10.1371/journal.pone.0212382 |
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