Human α-synuclein-harboring familial Parkinson's disease-linked Ala-53 → Thr mutation causes neurodegenerative disease with α-synuclein aggregation in transgenic mice
Johns Hopkins University · National Cancer Institute
Abstract
Mutations in alpha-synuclein (alpha-Syn) cause Parkinson's disease (PD) in a small number of pedigrees with familial PD. Moreover, alpha-Syn accumulates as a major component of Lewy bodies and Lewy neurites, intraneuronal inclusions that are neuropathological hallmarks of PD. To better understand the pathogenic relationship between alterations in the biology of alpha-Syn and PD-associated neurodegeneration, we generated multiple lines of transgenic mice expressing high levels of either wild-type or familial PD-linked Ala-30 --> Pro (A30P) or Ala-53 --> Thr (A53T) human alpha-Syns. The mice expressing the A53T human alpha-Syn, but not wild-type or the A30P variants, develop adult-onset neurodegenerative disease…
Citation impact
- FWCI
- 34.93
- Percentile
- 100%
- References
- 42
Authors
10- MKMichael K. LeeCorresponding
Johns Hopkins University, National Cancer Institute
- WLWanda L.H. Stirling
Johns Hopkins University, National Cancer Institute
- YXYanqun Xu
Johns Hopkins University, National Cancer Institute
- XXXueying Xu
Johns Hopkins University, National Cancer Institute
- DQDike Qui
Johns Hopkins University, National Cancer Institute
Topics & keywords
- Neurodegeneration
- Alpha-synuclein
- Genetically modified mouse
- Dementia with Lewy bodies
- Mutation
- Biology
- Parkinson's disease
- Neurite