Gene Review:
ACTA1 - actin, alpha 1, skeletal muscle
Homo sapiens
Synonyms:
ACTA, ASMA, Actin, alpha skeletal muscle, Alpha-actin-1, CFTD, ...
North,
Kobayashi,
Jeffery,
Nevo,
Abrams,
Sparrow,
Goez,
Shimakawa,
Stern,
Durling,
Tran,
Pelin,
North,
Ludwicka-Bradley,
Savani,
Laing,
Andr??,
Tourkina,
Clarke,
Grimm,
Spangenburg,
Hagiwara,
Cole,
Gough,
Karaszewski,
Silver,
Pinard,
P??nicaud,
Schröder,
Nishino,
Borochowitz,
Casteilla,
Gellatly,
Goebel,
McKenna,
North,
Glénisson,
Waltregny,
Laing,
Sira,
Rush,
Romero,
Durling,
Nickerson,
Fox,
Planat-Benard,
Nonaka,
Castronovo,
Bogatkevich,
Muntoni,
Harley,
Willner,
Kubis,
Liyanage,
Booth,
Nowak,
Laing,
Colige,
Ouvrier,
Waeckel,
Wallgren-Pettersson,
Silvestre,
Tomita,
Bowles,
Verdin,
Laing,
Seylaz,
Jossiphov,
Johnson,
Walker,
Beggs,
Dye,
Tran-Dinh,
- Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nowak, K.J., Wattanasirichaigoon, D., Goebel, H.H., Wilce, M., Pelin, K., Donner, K., Jacob, R.L., Hübner, C., Oexle, K., Anderson, J.R., Verity, C.M., North, K.N., Iannaccone, S.T., Müller, C.R., Nürnberg, P., Muntoni, F., Sewry, C., Hughes, I., Sutphen, R., Lacson, A.G., Swoboda, K.J., Vigneron, J., Wallgren-Pettersson, C., Beggs, A.H., Laing, N.G. Nat. Genet. (1999)
- Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Ilkovski, B., Nowak, K.J., Domazetovska, A., Maxwell, A.L., Clement, S., Davies, K.E., Laing, N.G., North, K.N., Cooper, S.T. Hum. Mol. Genet. (2004)
- Actin mutations are one cause of congenital fibre type disproportion. Laing, N.G., Clarke, N.F., Dye, D.E., Liyanage, K., Walker, K.R., Kobayashi, Y., Shimakawa, S., Hagiwara, T., Ouvrier, R., Sparrow, J.C., Nishino, I., North, K.N., Nonaka, I. Ann. Neurol. (2004)
- Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Agrawal, P.B., Strickland, C.D., Midgett, C., Morales, A., Newburger, D.E., Poulos, M.A., Tomczak, K.K., Ryan, M.M., Iannaccone, S.T., Crawford, T.O., Laing, N.G., Beggs, A.H. Ann. Neurol. (2004)
- Direct effects of leptin on size and extracellular matrix components of human pediatric ventricular myocytes. Madani, S., De Girolamo, S., Muñoz, D.M., Li, R.K., Sweeney, G. Cardiovasc. Res. (2006)
- The pathogenesis of ACTA1-related congenital fiber type disproportion. Clarke, N.F., Ilkovski, B., Cooper, S., Valova, V.A., Robinson, P.J., Nonaka, I., Feng, J.J., Marston, S., North, K. Ann. Neurol. (2007)
- Factors underlying individual differences in the color matches of normal observers. Webster, M.A., MacLeod, D.I. Journal of the Optical Society of America. A, Optics and image science. (1988)
- Alterations on phosphodiesterase type 7 and 8 isozyme mRNA expression in Alzheimer's disease brains examined by in situ hybridization. Pérez-Torres, S., Cortés, R., Tolnay, M., Probst, A., Palacios, J.M., Mengod, G. Exp. Neurol. (2003)
- Further validation and development of a screening instrument for the assessment of substance misuse in adolescents. Willner, P. Addiction (2000)
- Response inhibition can affect reaction time to abrupt-onset visual displays. Gellatly, A., Cole, G., Fox, C., Johnson, M. Perception. (2003)
- Hereditary multi-infarct dementia. Sonninen, V., Savontaus, M.L. Eur. Neurol. (1987)
- Neointimal and tubulointerstitial infiltration by recipient mesenchymal cells in chronic renal-allograft rejection. Grimm, P.C., Nickerson, P., Jeffery, J., Savani, R.C., Gough, J., McKenna, R.M., Stern, E., Rush, D.N. N. Engl. J. Med. (2001)
- Identification and characterization of multiple forms of actin. Garrels, J.I., Gibson, W. Cell (1976)
- Computerized axial tomography in syringomyelia. DiChiro, G., Axelbaum, S.P., Schellinger, D., Twigg, H.L., Ledley, R.S. N. Engl. J. Med. (1975)
- Severe nemaline myopathy caused by mutations of the stop codon of the skeletal muscle alpha actin gene (ACTA1). Wallefeld, W., Krause, S., Nowak, K.J., Dye, D., Horváth, R., Molnár, Z., Szabó, M., Hashimoto, K., Reina, C., Carlos, J.D., Rosell, J., Cabello, A., Navarro, C., Nishino, I., Lochmüller, H., Laing, N.G. Neuromuscul. Disord. (2006)
- Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report. Buxmann, H., Schlösser, R., Schlote, W., Sewell, A., Nowak, K.J., Laing, N.G., Loewenich, V. Neuropediatrics. (2001)
- Transforming growth factor-beta induces airway smooth muscle hypertrophy. Goldsmith, A.M., Bentley, J.K., Zhou, L., Jia, Y., Bitar, K.N., Fingar, D.C., Hershenson, M.B. Am. J. Respir. Cell Mol. Biol. (2006)
- Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Wallgren-Pettersson, C., Pelin, K., Nowak, K.J., Muntoni, F., Romero, N.B., Goebel, H.H., North, K.N., Beggs, A.H., Laing, N.G. Neuromuscul. Disord. (2004)
- Adrenergic regulation of the skeletal alpha-actin gene promoter during myocardial cell hypertrophy. Bishopric, N.H., Kedes, L. Proc. Natl. Acad. Sci. U.S.A. (1991)
- Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. Ilkovski, B., Cooper, S.T., Nowak, K., Ryan, M.M., Yang, N., Schnell, C., Durling, H.J., Roddick, L.G., Wilkinson, I., Kornberg, A.J., Collins, K.J., Wallace, G., Gunning, P., Hardeman, E.C., Laing, N.G., North, K.N. Am. J. Hum. Genet. (2001)
- Assignment of the human skeletal muscle [FC12]a-actin gene (ACTA1) to chromosome 1q42.13-->q42.2 by radiation hybrid mapping. Mogensen, J., Kruse, T.A., Børglum, A.D. Cytogenet. Cell Genet. (1998)
- Isolation and characterization of full-length cDNA clones for human alpha-, beta-, and gamma-actin mRNAs: skeletal but not cytoplasmic actins have an amino-terminal cysteine that is subsequently removed. Gunning, P., Ponte, P., Okayama, H., Engel, J., Blau, H., Kedes, L. Mol. Cell. Biol. (1983)
- Synergistic roles of platelet-derived growth factor-BB and interleukin-1beta in phenotypic modulation of human aortic smooth muscle cells. Chen, C.N., Li, Y.S., Yeh, Y.T., Lee, P.L., Usami, S., Chien, S., Chiu, J.J. Proc. Natl. Acad. Sci. U.S.A. (2006)
- Insulin-like growth factor-induced transcriptional activity of the skeletal alpha-actin gene is regulated by signaling mechanisms linked to voltage-gated calcium channels during myoblast differentiation. Spangenburg, E.E., Bowles, D.K., Booth, F.W. Endocrinology (2004)
- Actin-associated proteins in human neutrophils: identification and reorganization upon cell activation. Niggli, V., Jenni, V. Eur. J. Cell Biol. (1989)
- Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation. Akkari, P.A., Eyre, H.J., Wilton, S.D., Callen, D.F., Lane, S.A., Meredith, C., Kedes, L., Laing, N.G. Cytogenet. Cell Genet. (1994)
- Predominantly upper limb weakness, enlarged cisterna magna, and borderline intelligence in a child with de novo mutation of the skeletal muscle alpha-actin gene. Goez, H., Sira, L.B., Jossiphov, J., Borochowitz, Z., Durling, H., Laing, N.G., Nevo, Y. J. Child Neurol. (2005)
- Heparin and heparan sulfate block angiotensin II-induced hypertrophy in cultured neonatal rat cardiomyocytes. A possible role of intrinsic heparin-like molecules in regulation of cardiomyocyte hypertrophy. Akimoto, H., Ito, H., Tanaka, M., Adachi, S., Hata, M., Lin, M., Fujisaki, H., Marumo, F., Hiroe, M. Circulation (1996)
- Initiation and maturation of I-Z-I bodies in the growth tips of transfected myotubes. Ojima, K., Lin, Z.X., Zhang, Z.Q., Hijikata, T., Holtzer, S., Labeit, S., Sweeney, H.L., Holtzer, H. J. Cell. Sci. (1999)
- Plant profilin induces actin polymerization from actin : beta-thymosin complexes and competes directly with beta-thymosins and with negative co-operativity with DNase I for binding to actin. Ballweber, E., Giehl, K., Hannappel, E., Huff, T., Jockusch, B.M., Mannherz, H.G. FEBS Lett. (1998)
- The human skeletal alpha-actin gene is regulated by a muscle-specific enhancer that binds three nuclear factors. Muscat, G.E., Perry, S., Prentice, H., Kedes, L. Gene Expr. (1992)
- Myogenic basic helix-loop-helix proteins and Sp1 interact as components of a multiprotein transcriptional complex required for activity of the human cardiac alpha-actin promoter. Biesiada, E., Hamamori, Y., Kedes, L., Sartorelli, V. Mol. Cell. Biol. (1999)
- CArG boxes in the human cardiac alpha-actin gene are core binding sites for positive trans-acting regulatory factors. Miwa, T., Boxer, L.M., Kedes, L. Proc. Natl. Acad. Sci. U.S.A. (1987)
- Identification and characterization of novel smoothelin isoforms in vascular smooth muscle. Krämer, J., Quensel, C., Meding, J., Cardoso, M.C., Leonhardt, H. J. Vasc. Res. (2001)
- Contractile activity and smooth muscle alpha-actin organization in thrombin-induced human lung myofibroblasts. Bogatkevich, G.S., Tourkina, E., Abrams, C.S., Harley, R.A., Silver, R.M., Ludwicka-Bradley, A. Am. J. Physiol. Lung Cell Mol. Physiol. (2003)
- The role of integrin-linked kinase in liver wound healing. Shafiei, M.S., Rockey, D.C. J. Biol. Chem. (2006)
- Smooth Muscle alpha-actin is a direct target of Notch/CSL. Noseda, M., Fu, Y., Niessen, K., Wong, F., Chang, L., McLean, G., Karsan, A. Circ. Res. (2006)
- Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Donner, K., Ollikainen, M., Ridanpää, M., Christen, H.J., Goebel, H.H., de Visser, M., Pelin, K., Wallgren-Pettersson, C. Neuromuscul. Disord. (2002)
- Timing of human insulin-like growth factor-1 gene transfer in reinnervating laryngeal muscle. Nakagawa, H., Shiotani, A., O'Malley, B.W., Coleman, M.E., Flint, P.W. Laryngoscope (2004)
- Histone deacetylase HDAC8 associates with smooth muscle alpha-actin and is essential for smooth muscle cell contractility. Waltregny, D., Glénisson, W., Tran, S.L., North, B.J., Verdin, E., Colige, A., Castronovo, V. FASEB J. (2005)
- The alpha-smooth muscle actin-positive cells in healing human myocardial scars. Willems, I.E., Havenith, M.G., De Mey, J.G., Daemen, M.J. Am. J. Pathol. (1994)
- Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). Schröder, J.M., Durling, H., Laing, N. Acta Neuropathol. (2004)
- Eukaryotic type II chaperonin CCT interacts with actin through specific subunits. Llorca, O., McCormack, E.A., Hynes, G., Grantham, J., Cordell, J., Carrascosa, J.L., Willison, K.R., Fernandez, J.J., Valpuesta, J.M. Nature (1999)
- Redifferentiation of smooth muscle cells after coronary angioplasty determined via myosin heavy chain expression. Aikawa, M., Sakomura, Y., Ueda, M., Kimura, K., Manabe, I., Ishiwata, S., Komiyama, N., Yamaguchi, H., Yazaki, Y., Nagai, R. Circulation (1997)
- Vascular fate of adipose tissue-derived adult stromal cells in the ischemic murine brain: A combined imaging-histological study. Kubis, N., Tomita, Y., Tran-Dinh, A., Planat-Benard, V., Andr??, M., Karaszewski, B., Waeckel, L., P??nicaud, L., Silvestre, J.S., Casteilla, L., Seylaz, J., Pinard, E. Neuroimage (2007)