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Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease

19 Dec 2016

Abstract excerpt

The recent identification of profilin1 mutations in 25 familial ALS cases has linked altered function of this cytoskeleton-regulating protein to the pathogenesis of motor neuron disease. To investigate the pathological role of mutant profilin1 in motor neuron disease, we generated transgenic lines of mice expressing human profilin1 with a mutation at position 118 (hPFN1G118V). One of the mouse lines expressing...

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PMID: 28040732
DOI: 10.1093/hmg/ddw429

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