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Page 1
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Cheng H, Dharmadhikari AV, Varland S, Ma N, Domingo D, Kleyner R, Rope AF, Yoon M, Stray-Pedersen A, Posey JE, Crews SR, Eldomery MK, Akdemir ZC, Lewis AM, Sutton VR, Rosenfeld JA, Conboy E, Agre K, Xia F, Walkiewicz M, Longoni M, High FA, van Slegtenhorst MA, Mancini GMS, Finnila CR, van Haeringen A, den Hollander N, Ruivenkamp C, Naidu S, Mahida S, Palmer EE, Murray L, Lim D, Jayakar P, Parker MJ, Giusto S, Stracuzzi E, Romano C, Beighley JS, Bernier RA, Küry S, Nizon M, Corbett MA, Shaw M, Gardner A, Barnett C, Armstrong R, Kassahn KS, Van Dijck A, Vandeweyer G, Kleefstra T, Schieving J, Jongmans MJ, de Vries BBA, Pfundt R, Kerr B, Rojas SK, Boycott KM, Person R, Willaert R, Eichler EE, Kooy RF, Yang Y, Wu JC, Lupski JR, Arnesen T, Cooper GM, Chung WK, Gecz J, Stessman HAF, Meng L, Lyon GJ. Cheng H, et al. Among authors: varland s. Am J Hum Genet. 2018 May 3;102(5):985-994. doi: 10.1016/j.ajhg.2018.03.004. Epub 2018 Apr 12. Am J Hum Genet. 2018. PMID: 29656860 Free PMC article.
Structural determinants and cellular environment define processed actin as the sole substrate of the N-terminal acetyltransferase NAA80.
Goris M, Magin RS, Foyn H, Myklebust LM, Varland S, Ree R, Drazic A, Bhambra P, Støve SI, Baumann M, Haug BE, Marmorstein R, Arnesen T. Goris M, et al. Among authors: varland s. Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4405-4410. doi: 10.1073/pnas.1719251115. Epub 2018 Mar 26. Proc Natl Acad Sci U S A. 2018. PMID: 29581307 Free PMC article.
Spotlight on protein N-terminal acetylation.
Ree R, Varland S, Arnesen T. Ree R, et al. Among authors: varland s. Exp Mol Med. 2018 Jul 27;50(7):1-13. doi: 10.1038/s12276-018-0116-z. Exp Mol Med. 2018. PMID: 30054468 Free PMC article. Review.
PFN2 and NAA80 cooperate to efficiently acetylate the N-terminus of actin.
Ree R, Kind L, Kaziales A, Varland S, Dai M, Richter K, Drazic A, Arnesen T. Ree R, et al. Among authors: varland s. J Biol Chem. 2020 Dec 4;295(49):16713-16731. doi: 10.1074/jbc.RA120.015468. Epub 2020 Sep 25. J Biol Chem. 2020. PMID: 32978259 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33453906
Mechanisms of Congenital Heart Disease Caused by NAA15 Haploinsufficiency.
Ward T, Tai W, Morton S, Impens F, Van Damme P, Van Haver D, Timmerman E, Venturini G, Zhang K, Jang MY, Willcox JAL, Haghighi A, Gelb BD, Chung WK, Goldmuntz E, Porter GA Jr, Lifton RP, Brueckner M, Yost HJ, Bruneau BG, Gorham J, Kim Y, Pereira A, Homsy J, Benson CC, DePalma SR, Varland S, Chen CS, Arnesen T, Gevaert K, Seidman C, Seidman JG. Ward T, et al. Among authors: varland s. Circ Res. 2021 Apr 16;128(8):1156-1169. doi: 10.1161/CIRCRESAHA.120.316966. Epub 2021 Feb 9. Circ Res. 2021. PMID: 33557580 Free PMC article. Clinical Trial.
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