Decoding ALS: from genes to mechanism

J. Paul Taylor (), Robert H. Brown () and Don W. Cleveland ()
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J. Paul Taylor: St. Jude Children's Research Hospital
Robert H. Brown: University of Massachusetts Medical School
Don W. Cleveland: Ludwig Institute for Cancer Research, University of California

Nature, 2016, vol. 539, issue 7628, 197-206

Abstract: Abstract Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative disease. A plethora of genetic factors have been identified that drive the degeneration of motor neurons in ALS, increase susceptibility to the disease or influence the rate of its progression. Emerging themes include dysfunction in RNA metabolism and protein homeostasis, with specific defects in nucleocytoplasmic trafficking, the induction of stress at the endoplasmic reticulum and impaired dynamics of ribonucleoprotein bodies such as RNA granules that assemble through liquid–liquid phase separation. Extraordinary progress in understanding the biology of ALS provides new reasons for optimism that meaningful therapies will be identified.

Date: 2016
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DOI: 10.1038/nature20413

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