| Actn2 defects accelerates H9c2 hypertrophy via ERK phosphorylation under chronic stress. | Actn2 defects accelerates H9c2 hypertrophy via ERK phosphorylation under chronic stress.
Wang K, Wang Y, Wan H, Wang J, Hu L, Huang S, Sheng M, Wu J, Han X, Yu Y, Chen P, Chen F. | 09/9/2024 |
| Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. | Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR, Undiagnosed Diseases Network, Mammen AL, Wheeler MT, O'Donnell-Luria A, Bönnemann CG., Free PMC Article | 03/29/2024 |
| Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2. | Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2.
Rodriguez Garcia M, Schmeckpeper J, Landim-Vieira M, Coscarella IL, Fang X, Ma W, Spran PA, Yuan S, Qi L, Kahmini AR, Shoemaker MB, Atkinson JB, Kekenes-Huskey PM, Irving TC, Chase PB, Knollmann BC, Pinto JR., Free PMC Article | 11/7/2023 |
| Cardiomyopathy-associated variants alter the structure and function of the alpha-actinin-2 actin-binding domain. | Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain.
Atang AE, Rebbeck RT, Thomas DD, Avery AW. | 06/24/2023 |
| Mutation update for the ACTN2 gene. | Mutation update for the ACTN2 gene.
Ranta-Aho J, Olive M, Vandroux M, Roticiani G, Dominguez C, Johari M, Torella A, Böhm J, Turon J, Nigro V, Hackman P, Laporte J, Udd B, Savarese M., Free PMC Article | 12/24/2022 |
| ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes. | ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes.
Zech ATL, Prondzynski M, Singh SR, Pietsch N, Orthey E, Alizoti E, Busch J, Madsen A, Behrens CS, Meyer-Jens M, Mearini G, Lemoine MD, Krämer E, Mosqueira D, Virdi S, Indenbirken D, Depke M, Salazar MG, Völker U, Braren I, Pu WT, Eschenhagen T, Hammer E, Schlossarek S, Carrier L., Free PMC Article | 10/8/2022 |
| Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. | Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.
Lindholm ME, Jimenez-Morales D, Zhu H, Seo K, Amar D, Zhao C, Raja A, Madhvani R, Abramowitz S, Espenel C, Sutton S, Caleshu C, Berry GJ, Motonaga KS, Dunn K, Platt J, Ashley EA, Wheeler MT., Free PMC Article | 03/19/2022 |
| Sleeping Beauty insertional mutagenesis screen identifies the pro-metastatic roles of CNPY2 and ACTN2 in hepatocellular carcinoma tumor progression. | Sleeping Beauty insertional mutagenesis screen identifies the pro-metastatic roles of CNPY2 and ACTN2 in hepatocellular carcinoma tumor progression.
Lo LH, Lam CY, To JC, Chiu CH, Keng VW. | 08/14/2021 |
| Differential regulation of Actn2 and Actn3 expression during unfolded protein response in C2C12 myotubes. | 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. | 08/14/2021 |
| Cardiac MLC2 kinase is localized to the Z-disc and interacts with alpha-actinin2. | Cardiac MLC2 kinase is localized to the Z-disc and interacts with α-actinin2.
X Cai L, Tanada Y, D Bello G, C Fleming J, F Alkassis F, Ladd T, Golde T, Koh J, Chen S, Kasahara H., Free PMC Article | 10/31/2020 |
| CTN2 (rs6655267) and MPPED2 (rs536007) are not associated with primary dentition caries. MPPED2 (rs11031093, G Allele) is marginally associated. | ACTN2 (rs6656267) and MPPED2 (rs11031093 and rs536007) polymorphisms in primary dentition caries: A case-control study.
Katifelis H, Sioziou A, Gazouli M, Emmanouil D. | 06/27/2020 |
| A putative causal variant associated with heart failure, in a cardiac muscle specific regulatory region activated during cardiomyocyte differentiation, binds to actinin alpha 2 (ACTN2) gene enhancer. Genome-editing in human embryonic stem cell-derived cardiomyocytes confirms the influence of the identified regulatory region in the expression of ACTN2. | Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure.
Arvanitis M, Tampakakis E, Zhang Y, Wang W, Auton A, 23andMe Research Team, Dutta D, Glavaris S, Keramati A, Chatterjee N, Chi NC, Ren B, Post WS, Battle A., Free PMC Article | 05/30/2020 |
| our data demonstrate that specific mutations in the well-known Z-line regulator alpha-actinin-2 can cause a skeletal muscle disorder | ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).
Lornage X, Romero NB, Grosgogeat CA, Malfatti E, Donkervoort S, Marchetti MM, Neuhaus SB, Foley AR, Labasse C, Schneider R, Carlier RY, Chao KR, Medne L, Deleuze JF, Orlikowski D, Bönnemann CG, Gupta VA, Fardeau M, Böhm J, Laporte J., Free PMC Article | 04/25/2020 |
| A unique missense mutation in ACTN2 was identified that is linked to a new genetically determined distal myopathy. | Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations.
Savarese M, Palmio J, Poza JJ, Weinberg J, Olive M, Cobo AM, Vihola A, Jonson PH, Sarparanta J, García-Bragado F, Urtizberea JA, Hackman P, Udd B. | 04/4/2020 |
| A novel, likely pathogenic mutation (c.959T>G/p.L320R) of ACTN2 was identified in all individuals affected with dilated cardiomyopathy (DCM) and/or ventricular tachycardia. This study not only expands the spectrum of ACTN2 mutations and contributes to the genetic diagnosis and counseling of families with DCM and arrhythmia, but also provides a new case with overlap phenotype caused by an ACTN2 variant. | Whole-Exome Sequencing Identifies a Novel Mutation (p.L320R) of Alpha-Actinin 2 in a Chinese Family with Dilated Cardiomyopathy and Ventricular Tachycardia.
Fan LL, Huang H, Jin JY, Li JJ, Chen YQ, Xiang R. | 05/18/2019 |
| A dual-beam optical tweezers measured the mechanics of alpha-actinin 2 and rabbit titin interaction at the single-molecule level. Depending on the direction of force application, the unbinding forces can more than triple. Multiple alpha-actinin/Z-repeat interactions cooperate to ensure long-term stable titin anchoring, while allowing the individual components to exchange dynamically. | α-Actinin/titin interaction: A dynamic and mechanically stable cluster of bonds in the muscle Z-disk.
Grison M, Merkel U, Kostan J, Djinović-Carugo K, Rief M., Free PMC Article | 05/12/2018 |
| These results provide new insights into the regulation of SK2 channel trafficking by the cytoskeletal proteins FLNA and alpha-actinin2, involving distinct recycling pathways | Distinct subcellular mechanisms for the enhancement of the surface membrane expression of SK2 channel by its interacting proteins, α-actinin2 and filamin A.
Zhang Z, Ledford HA, Park S, Wang W, Rafizadeh S, Kim HJ, Xu W, Lu L, Lau VC, Knowlton AA, Zhang XD, Yamoah EN, Chiamvimonvat N., Free PMC Article | 09/23/2017 |
| the interaction between GNE and alpha-actinin 1 and alpha-actinin 2 occur at different sites in the alpha-actinin molecules and that for alpha-actinin 2 the interaction site is located at the C-terminus of the protein. | The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.
Harazi A, Becker-Cohen M, Zer H, Moshel O, Hinderlich S, Mitrani-Rosenbaum S. | 07/8/2017 |
| The full length mEos2 tagged protein expressed in adult cardiomyocytes shows that both mutations additionally affect Z-disc localization and dynamic behaviour | Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation.
Haywood NJ, Wolny M, Rogers B, Trinh CH, Shuping Y, Edwards TA, Peckham M., Free PMC Article | 06/10/2017 |
| study strengthens the hypothesis that ACTN2 influences caries risk. | Genetic Association of MPPED2 and ACTN2 with Dental Caries.
Stanley BO, Feingold E, Cooper M, Vanyukov MM, Maher BS, Slayton RL, Willing MC, Reis SE, McNeil DW, Crout RJ, Weyant RJ, Levy SM, Vieira AR, Marazita ML, Shaffer JR., Free PMC Article | 08/6/2016 |
| The novel heterozygous missense sequence variant ACTN2 cosegregated with a complex cardiomyopathic trait, characterized by the interplay of midapical, nonobstructive HCM, early onset of AF and AV block, as well as regional LV noncompaction. | Novel α-actinin 2 variant associated with familial hypertrophic cardiomyopathy and juvenile atrial arrhythmias: a massively parallel sequencing study.
Girolami F, Iascone M, Tomberli B, Bardi S, Benelli M, Marseglia G, Pescucci C, Pezzoli L, Sana ME, Basso C, Marziliano N, Merlini PA, Fornaro A, Cecchi F, Torricelli F, Olivotto I. | 07/25/2015 |
| Clinical evaluation of an Australian family revealed diverse cardiac pathologies in four affected members and genetic testing of the exome identified a pathogenic ACTN2 heterozygous variant (Ala119Thr) that co-segregated with disease. | Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death.
Bagnall RD, Molloy LK, Kalman JM, Semsarian C., Free PMC Article | 07/4/2015 |
| Study reports a complete high-resolution structure of the 200 kDa alpha-actinin-2 dimer from striated muscle and explore its functional implications on the biochemical and cellular level. | The structure and regulation of human muscle α-actinin.
Ribeiro Ede A Jr, Pinotsis N, Ghisleni A, Salmazo A, Konarev PV, Kostan J, Sjöblom B, Schreiner C, Polyansky AA, Gkougkoulia EA, Holt MR, Aachmann FL, Zagrović B, Bordignon E, Pirker KF, Svergun DI, Gautel M, Djinović-Carugo K., Free PMC Article | 02/14/2015 |
| This study generated the genomic sequences of K88-positive and F18-positive porcine enteroteoxigenic E. coli (ETEC) strains and examined the phylogenetic distribution of clinical porcine ETEC strains and their plasmid-associated genetic content. | Genome sequences and phylogenetic analysis of K88- and F18-positive porcine enterotoxigenic Escherichia coli.
Shepard SM, Danzeisen JL, Isaacson RE, Seemann T, Achtman M, Johnson TJ., Free PMC Article | 08/20/2012 |
| Findigs show that the F-actin-binding protein alpha-actinin-2 targets CaMKIIalpha to F-actin in cells by binding to the CaMKII regulatory domain. | Substrate-selective and calcium-independent activation of CaMKII by α-actinin.
Jalan-Sakrikar N, Bartlett RK, Baucum AJ 2nd, Colbran RJ., Free PMC Article | 08/4/2012 |