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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:PLoS One
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Public Library of Science 2019
Gaiak:
Research Article
Sarrera elektronikoa: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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