期刊
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
卷 78, 期 12, 页码 1124-1129出版社
OXFORD UNIV PRESS INC
DOI: 10.1093/jnen/nlz102
关键词
Cell model; Frontotemporal lobar degeneration; GRN; Progranulin; Replacement; Short hairpin RNAs; TAR DNA binding protein-43
资金
- Alzheimer's Disease Research Fund Grant from the Illinois Department of Public Health [83282003F]
- National Natural Science Foundation of China [81773265]
- Key Research and Development Plan of Shaanxi Province [2018SF-106]
- Fundamental Research Funds for the Central Universities [GK201706002]
- Fundamental Research Funds for the Central Universities of Shaanxi Normal University [GK201603113]
Mutations in the GRN gene coding for progranulin (PGRN) are responsible for many cases of familial frontotemporal lobar degeneration (FTLD) with TAR DNA-binding protein 43 (TDP-43)-positive inclusions (FTLD-TDP). GRN mutations create null alleles resulting in decreased progranulin protein or haploinsufficiency. FTLD-TDP with GRN mutations is characterized by lentiform neuronal intranuclear inclusions that are positive for TDP-43 in affected brain regions. In this study, by stably expressed short hairpin RNA, we established a neuroblastoma cell line with decreased PGRN level. This cell line reveals TDP-43-positive intranuclear inclusions. In addition, replacement with purified PGRN protein restores normal TDP-43 nuclear distribution. This cell model can be valuable for the study of the role of PGRN in the pathogenesis in FTLD-TDP.
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