Journal
NATURE
Volume 539, Issue 7628, Pages 197-206Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nature20413
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Funding
- Howard Hughes Medical Institute
- US National Institute of Neurological Disorders and Stroke (NINDS)
- American Lebanese Syrian Associated Charities
- Target ALS
- US ALS Association
- NINDS
- ALS Association
- ALS Finding a Cure
- ALS ONE
- Angel Fund for ALS Research
- Project ALS
- Ludwig Institute for Cancer Research
- NINDS [R01 NS27036]
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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.
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