Decoding ALS: from genes to mechanism

By J. Taylor, Robert H. Brown, Don W. Cleveland. Nature, 2016

1,838 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Neurology

View Paper: https://www.semanticscholar.org/paper/780d63131f23382333c5c3d7fb401f6112cb9841

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. M. Lamkanfi
2. S. Alberti

In Molecular Biology

1. D. Dormann
2. Julie D. Forman-Kay
3. G. van Loo
4. M. Lamkanfi
5. S. Alberti
6. Tae Hun Kim
7. Robert M. Vernon
8. P. A. Chong

In Neurology

1. Pegah Masrori
2. P. van Damme
3. S. Alberti
4. L. Zuo
5. Zewen Liu
6. D. Dormann
7. Tingyang Zhou

Citations in the corpus

• Liquid-Liquid Phase Separation in Disease. (2019, background): “, TDP-43 or FUS mutations in ALS patients (144).”
• Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis (2019, background): “While the majority of the ALS cases (∼90–95%) are considered as sporadic (sALS) with unknown cause, ∼5–10% cases involve Mendelian pattern of inheritance of familial gene mutations and are known as familial ALS (fALS) (Renton et al., 2014; Taylor et al., 2016).”
• Pi-Pi contacts are an overlooked protein feature relevant to phase separation (2018, background): “…IDRs implicated in phase separation of FUS, EWS, hnRNPA1, TIA-1, TDP-43 and the RNA Pol II C-terminal domain (CTD) (Mitrea and Kriwacki, 2016; Taylor et al., 2016; Kato et al., 2012) are very enriched in these residues that have high potential for formation of pi-pi interactions, relative to…”
• Amyotrophic lateral sclerosis: a clinical review (2020, background): “Multiple molecular pathways have been implicated in the pathogenesis of ALS, such as failure of proteostasis, excitotoxicity, neuroinflammation, mitochondrial dysfunction and oxidative stress, oligodendrocyte dysfunction, cytoskeletal disturbances and axonal transport defects, disturbed RNA metaboli”
• Inflammasomes in neuroinflammatory and neurodegenerative diseases (2019, background): “Inflammasome activation in amyotrophic lateral sclerosis Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is caused by the progressive loss of upper and lower motor neurons and leads to muscle weakness and wasting (Taylor et al, 2016).”
• Tau protein liquid–liquid phase separation can initiate tau aggregation (2018, neutral): “A similar transition can lead to aberrant stress granule dynamics of C9orf72-derived dipeptide repeats, which plays a role in the pathogenesis in amyotrophic sclerosis (ALS; Taylor et al , 2016).”
• Oxidative Stress in Neurodegenerative Diseases: From Molecular Mechanisms to Clinical Applications (2017, background): “Amyotrophic lateral sclerosis (ALS) is characterized by progressive loss of motor neurons in the anterior horn of the spinal cord [111, 112].”