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SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.
Richard P, Feng S, Tsai YL, Li W, Rinchetti P, Muhith U, Irizarry-Cole J, Stolz K, Sanz LA, Hartono S, Hoque M, Tadesse S, Seitz H, Lotti F, Hirano M, Chédin F, Tian B, Manley JL. Richard P, et al. Autophagy. 2021 Aug;17(8):1889-1906. doi: 10.1080/15548627.2020.1796292. Epub 2020 Aug 7. Autophagy. 2021. PMID: 32686621 Free PMC article.
R Loops and Links to Human Disease.
Richard P, Manley JL. Richard P, et al. J Mol Biol. 2017 Oct 27;429(21):3168-3180. doi: 10.1016/j.jmb.2016.08.031. Epub 2016 Sep 4. J Mol Biol. 2017. PMID: 27600412 Free PMC article. Review.
Senataxin mutations and amyotrophic lateral sclerosis.
Hirano M, Quinzii CM, Mitsumoto H, Hays AP, Roberts JK, Richard P, Rowland LP. Hirano M, et al. Among authors: richard p. Amyotroph Lateral Scler. 2011 May;12(3):223-7. doi: 10.3109/17482968.2010.545952. Epub 2010 Dec 29. Amyotroph Lateral Scler. 2011. PMID: 21190393 Free PMC article.
1,023 results