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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. Among authors: tadesse s. Autophagy. 2021 Aug;17(8):1889-1906. doi: 10.1080/15548627.2020.1796292. Epub 2020 Aug 7. Autophagy. 2021. PMID: 32686621 Free PMC article.
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review.
Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M. Emmanuele V, et al. Among authors: tadesse s. Arch Neurol. 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. Arch Neurol. 2012. PMID: 22490322 Free PMC article. Review.
Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.
Garcia-Diaz B, Barros MH, Sanna-Cherchi S, Emmanuele V, Akman HO, Ferreiro-Barros CC, Horvath R, Tadesse S, El Gharaby N, DiMauro S, De Vivo DC, Shokr A, Hirano M, Quinzii CM. Garcia-Diaz B, et al. Among authors: tadesse s. Am J Hum Genet. 2012 Oct 5;91(4):729-36. doi: 10.1016/j.ajhg.2012.08.019. Epub 2012 Sep 27. Am J Hum Genet. 2012. PMID: 23022099 Free PMC article.
200 results