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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:PLoS One
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2019
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6619604/
https://ncbi.nlm.nih.gov/pubmed/31291241
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0212382
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