Humphrey Lab

Genetics of Neurodegeneration

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice


Journal article


A. Devoy, B. Kalmar, M. Stewart, H. Park, B. Burke, Suzanna Noy, Yushi T. Redhead, J. Humphrey, K. Lo, J. Jaeger, Alan Mejia Maza, P. Sivakumar, C. Bertolin, G. Soraru', V. Plagnol, L. Greensmith, Abraham Acevedo Arozena, A. Isaacs, B. Davies, P. Fratta, E. Fisher
Brain : a journal of neurology, 2017

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APA   Click to copy
Devoy, A., Kalmar, B., Stewart, M., Park, H., Burke, B., Noy, S., … Fisher, E. (2017). Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice. Brain : a Journal of Neurology.


Chicago/Turabian   Click to copy
Devoy, A., B. Kalmar, M. Stewart, H. Park, B. Burke, Suzanna Noy, Yushi T. Redhead, et al. “Humanized Mutant FUS Drives Progressive Motor Neuron Degeneration without Aggregation in ‘FUSDelta14’ Knockin Mice.” Brain : a journal of neurology (2017).


MLA   Click to copy
Devoy, A., et al. “Humanized Mutant FUS Drives Progressive Motor Neuron Degeneration without Aggregation in ‘FUSDelta14’ Knockin Mice.” Brain : a Journal of Neurology, 2017.


BibTeX   Click to copy

@article{a2017a,
  title = {Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice},
  year = {2017},
  journal = {Brain : a journal of neurology},
  author = {Devoy, A. and Kalmar, B. and Stewart, M. and Park, H. and Burke, B. and Noy, Suzanna and Redhead, Yushi T. and Humphrey, J. and Lo, K. and Jaeger, J. and Maza, Alan Mejia and Sivakumar, P. and Bertolin, C. and Soraru', G. and Plagnol, V. and Greensmith, L. and Arozena, Abraham Acevedo and Isaacs, A. and Davies, B. and Fratta, P. and Fisher, E.}
}

Abstract

Devoy et al. develop the first mouse model to fully recapitulate human FUS-ALS, as defined by midlife-onset progressive degeneration of motor neurons with dominant inheritance. A toxic gain of function occurs in the absence of FUS protein aggregation, involving disturbance of ribosomes and mitochondria at the endoplasmic reticulum.