Citations for
Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation
Wyckelsma VL, Venckunas T, Houweling PJ, Schlittler M, Lauschke VM, Tiong CF, Wood HD, Ivarsson N, Paulauskas H, Eimantas N, Andersson DC, North KN, Brazaitis M, Westerblad H.
Am J Hum Genet. Mar 4;108(3):446-457. doi: 10.1016/j.ajhg.2021.01.013. Epub 2021 Feb 17. 2021
Differential regulation of Actn2 and Actn3 expression during unfolded protein response in C2C12 myotubes
Harada N, Gotoda Y, Hatakeyama A, Nakagawa T, Miyatake Y, Kuroda M, Masumoto S, Tsutsumi R, Nakaya Y, Sakaue H.
J Muscle Res Cell Motil. Sep;41(2-3):199-209. doi: 10.1007/s10974-020-09582-7. Epub 2020 May 25 2020
High Expression Levels of ACTN1 and ACTN3 Indicate Unfavorable Prognosis in Acute Myeloid Leukemia.
Yang X, Pang Y, Zhang J, Shi J, Zhang X, Zhang G, Yang S, Wang J, Hu K, Wang J, Jing H, Ke X, Fu L.
J Cancer. Jul 10;10(18):4286-4292. doi: 10.7150/jca.31766. eCollection 2019. 2019
The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.
Garton FC, Houweling PJ, Vukcevic D, Meehan LR, Lee FXZ, Lek M, Roeszler KN, Hogarth MW, Tiong CF, Zannino D, Yang N, Leslie S, Gregorevic P, Head SI, Seto JT, North KN.
Am J Hum Genet 102(5):845-857. doi: 10.1016/j.ajhg.2018.03.009. Epub 2018 Apr 26. 2018
Association analysis of the ACTN3 R577X polymorphism with passive muscle stiffness and muscle strain injury.
Miyamoto N, Miyamoto-Mikami E, Hirata K, Kimura N, Fuku N.
Scand J Med Sci Sports 28(3):1209-1214. doi: 10.1111/sms.12994. Epub 2017 Nov 3. 2018
Readthrough of ACTN3 577X nonsense mutation produces full-length α-actinin-3 protein
Harada N, Hatakeyama A, Okuyama M, Miyatake Y, Nakagawa T, Kuroda M, Masumoto S, Tsutsumi R, Nakaya Y, Sakaue H.
Biochem Biophys Res Commun. Jul 20;502(3):422-428. doi: 10.1016/j.bbrc.2018.05.193. Epub 2018 May 30. 2018
Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy
Hogarth MW, Houweling PJ, Thomas KC, Gordish-Dressman H, Bello L; Cooperative International Neuromuscular Research Group (CINRG), Pegoraro E, Hoffman EP, Head SI, North KN.
Nat Commun. Jan 31;8:14143. doi: 10.1038/ncomms14143. 2017
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
Hogarth MW, Garton FC, Houweling PJ, Tukiainen T, Lek M, Macarthur DG, Seto JT, Quinlan KG, Yang N, Head SI, North KN.
Hum Mol Genet 25(5):866-77. doi: 10.1093/hmg/ddv613. Epub 2015 Dec 17. 2016
α-Actinin-3: why gene loss is an evolutionary gain.
Ivarsson N, Westerblad H.
PLoS Genet 11(1):e1004908. doi: 10.1371/journal.pgen.1004908. eCollection 2015 Jan. No abstract available. 2015
Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution
Head SI, Chan S, Houweling PJ, Quinlan KG, Murphy R, Wagner S, Friedrich O, North KN.
PLoS Genet. Jan 15;11(2):e1004862. doi: 10.1371/journal.pgen.1004862. Erratum in: PLoS Genet. 2015 Jun;11(6):e1005312 2015
α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization.
Garton FC, Seto JT, Quinlan KG, Yang N, Houweling PJ, North KN.
Hum Mol Genet 23(7):1879-93. doi: 10.1093/hmg/ddt580. Epub 2013 Nov 13. 2014
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
Seto JT, Quinlan KG, Lek M, Zheng XF, Garton F, MacArthur DG, Hogarth MW, Houweling PJ, Gregorevic P, Turner N, Cooney GJ, Yang N, North KN.
J Clin Invest 123(10):4255-63. doi: 10.1172/JCI67691. Epub 2013 Sep 16. 2013
Role of alpha-actinin-3 in contractile properties of human single muscle fibers: a case series study in paraplegics.
Broos S, Malisoux L, Theisen D, Francaux M, Deldicque L, Thomis MA.
PLoS One 7(11):e49281. doi: 10.1371/journal.pone.0049281. Epub 2012 Nov 8. 2012
Human alpha-actinin-3 genotype association with exercise-induced muscle damage and the repeated-bout effect.
Venckunas T, Skurvydas A, Brazaitis M, Kamandulis S, Snieckus A, Moran CN.
Appl Physiol Nutr Metab 37(6):1038-46. doi: 10.1139/h2012-087. Epub 2012 Aug 14. 2012
Genomic structure, polymorphism and expression of the horse alpha-actinin-3 gene.
Mata X, Vaiman A, Ducasse A, Diribarne M, Schibler L, Guérin G.
Gene 491(1):20-4. doi: 10.1016/j.gene.2011.09.014. Epub 2011 Sep 29. 2012
Alpha-actinin-3 deficiency does not significantly alter oxidative enzyme activity in fast human muscle fibres.
Vincent B, Windelinckx A, Van Proeyen K, Masschelein E, Nielens H, Ramaekers M, Van Leemputte M, Hespel P, Thomis M.
Acta Physiol (Oxf) 204(4):555-61. doi: 10.1111/j.1748-1716.2011.02366.x. Epub 2011 Oct 17. 2012
The effect of α-actinin-3 deficiency on muscle aging.
Seto JT, Chan S, Turner N, MacArthur DG, Raftery JM, Berman YD, Quinlan KG, Cooney GJ, Head S, Yang N, North KN.
Exp Gerontol 46(4):292-302. Epub 2010 Nov 26. 2011
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse.
Yang N, Schindeler A, McDonald MM, Seto JT, Houweling PJ, Lek M, Hogarth M, Morse AR, Raftery JM, Balasuriya D, MacArthur DG, Berman Y, Quinlan KG, Eisman JA, Nguyen TV, Center JR, Prince RL, Wilson SG, Zhu K, Little DG, North KN.
Bone 49(4):790-8. doi: 10.1016/j.bone.2011.07.009. Epub 2011 Jul 19. 2011
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, MacArthur DG, Raftery JM, Garvey SM, Hauser MA, Yang N, Head SI, North KN.
Hum Mol Genet 20(15):2914-27. doi: 10.1093/hmg/ddr196. Epub 2011 May 2. 2011
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN.
Hum Mol Genet 19(7):1335-46. Epub 2010 Jan 20. 2010
ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.
Döring FE, Onur S, Geisen U, Boulay MR, Pérusse L, Rankinen T, Rauramaa R, Wolfahrt B, Bouchard C.
J Sports Sci 28(12):1355-9. 2010
A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism.
Berman Y, North KN.
Physiology (Bethesda) 25(4):250-9. Review. 2010
Sequence and expression of the zebrafish alpha-actinin gene family reveals conservation and diversification among vertebrates.
Holterhoff CK, Saunders RH, Brito EE, Wagner DS.
Dev Dyn 238(11):2936-47. 2009
The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3.
Agarwal SK, Simonds WF, Marx SJ.
Mol Cancer 7:65. 2008
The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease.
Lucia A, Gomez-Gallego F, Santiago C, Perez M, Mate-Munoz JL, Chamorro-Vina C, Nogales-Gadea G, Foster C, Rubio JC, Andreu AL, Martin MA, Arenas J.
Neuromuscul Disord 17(8):603-10. Epub 2007 Jun 8. 2007
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
Macarthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN.
Nat Genet 39(10):1261-5. Epub 2007 Sep 9. 2007
No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons.
Saunders CJ, September AV, Xenophontos SL, Cariolou MA, Anastassiades LC, Noakes TD, Collins M.
Ann Hum Genet 71(Pt 6):777-81. Epub 2007 Jul 12. 2007
The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin.
Franzot G, Sjoblom B, Gautel M, Djinovic Carugo K.
J Mol Biol 348(1):151-65. 2005
ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.
Clarkson PM, Devaney JM, Gordish-Dressman H, Thompson PD, Hubal MJ, Urso M, Price TB, Angelopoulos TJ, Gordon PM, Moyna NM, Pescatello LS, Visich PS, Zoeller RF, Seip RL, Hoffman EP.
J Appl Physiol 99(1):154-63. Epub 2005 Feb 17. 2005
A gene for speed? The evolution and function of alpha-actinin-3.
MacArthur DG, North KN.
Bioessays 26(7):786-95. Review. 2004
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.
Mills M, Yang N, Weinberger R, Vander Woude DL, Beggs AH, Easteal S, North K.
Hum Mol Genet 10(13):1335-46. 2001
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
North KN, et al.
Nat Genet 21(4):353-4. No abstract available 1999
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.
Beggs AH, et al.
J Biol Chem 267 : 9281-9288. 1992