ALS-causing mutations in profilin-1 alter its conformational dynamics: A computational approach to explain propensity for aggregation

Author:

Kiaei MahmoudORCID,Balasubramaniam Meenakshisundaram,Govind Kumar Vivek,Shmookler Reis Robert J.,Moradi Mahmoud,Varughese Kottayil I.

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Reference31 articles.

1. Fil, D. et al. Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease. Hum Mol Genet 26, 686–701, https://doi.org/10.1093/hmg/ddw429 (2017).

2. Wu, C. H. et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 488, 499–503 (2012).

3. Ingre, C. et al. A novel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts. Neurobiol Aging 34(1708), e1701–1706 (2013).

4. Smith, B. N. et al. Novel mutations support a role for Profilin 1 in the pathogenesis of ALS. Neurobiol Aging (2014).

5. Yang, C. et al. Mutant PFN1 causes ALS phenotypes and progressive motor neuron degeneration in mice by a gain of toxicity. Proc. Natl. Acad. Sci. USA 113, E6209–E6218 (2016).

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