期刊
NPJ PARKINSONS DISEASE
卷 2, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/npjparkd.2016.9
关键词
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资金
- Telethon Italy [GTB12001]
- Strategic Research Environment MultiPark-multidisciplinary research on Parkinson's disease at Lund University
- TEKES-the Finnish Funding Agency for Innovation
- Bergvall foundation
- Jeanssons foundation
- Swedish Parkinson foundation (Parkinsonfonden)
- Holger Crafoord foundation
- Segerfalk foundation
- Ake Wibergs foundation
- Greta och Johan Kocks foundation
- Danish Parkinson Foundation
- Lundbeck Foundation
- Saastamoinen Foundation
- Sigrid Juselius Foundation
- Finnish Parkinson Foundation
- Academy of Finland
- MultiPark-Strategic Research Environment at Lund University - Innovation Fund Denmark
- EU Research and Innovation Programme Horizon through ERA-NET co-fund scheme
- Innovation Fund Denmark
Induced pluripotent stem cells (iPSCs) are becoming an important source of pre-clinical models for research focusing on neurodegeneration. They offer the possibility for better understanding of common and divergent pathogenic mechanisms of brain diseases. Moreover, iPSCs provide a unique opportunity to develop personalized therapeutic strategies, as well as explore early pathogenic mechanisms, since they rely on the use of patients' own cells that are otherwise accessible only post-mortem, when neuronal death-related cellular pathways and processes are advanced and adaptive. Neurodegenerative diseases are in majority of unknown cause, but mutations in specific genes can lead to familial forms of these diseases. For example, mutations in the superoxide dismutase 1 gene lead to the motor neuron disease amyotrophic lateral sclerosis (ALS), while mutations in the SNCA gene encoding for alpha-synuclein protein lead to familial Parkinson's disease (PD). The generations of libraries of familial human ALS iPSC lines have been described, and the iPSCs rapidly became useful models for studying cell autonomous and non-cell autonomous mechanisms of the disease. Here we report the generation of a comprehensive library of iPSC lines of familial PD and an associated synucleinopathy, multiple system atrophy (MSA). In addition, we provide examples of relevant neural cell types these iPSC can be differentiated into, and which could be used to further explore early disease mechanisms. These human cellular models will be a valuable resource for identifying common and divergent mechanisms leading to neurodegeneration in PD and MSA.
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