Gene Symbol: Snta1
Description: syntrophin, alpha 1
Alias: alpha-1-syntrophin, syntrophin, acidic 1
Peters M, Kramarcy N, Sealock R, Froehner S. beta 2-Syntrophin: localization at the neuromuscular junction in skeletal muscle. Neuroreport. 1994;5:1577-80 pubmed
..alpha 1-Syntrophin appears to be associated mainly with dystrophin, as expected, but a small portion must be associated with another protein, possibly homologs of the electric tissue 87K protein. ..
Cerna J, Cerecedo D, Ortega A, Garcia Sierra F, Centeno F, Garrido E, et al
. Dystrophin Dp71f associates with the beta1-integrin adhesion complex to modulate PC12 cell adhesion. J Mol Biol. 2006;362:954-65 pubmed
..Our data indicate that Dp71f is a structural component of the beta1-integrin adhesion complex of PC12 cells that modulates PC12 cell adhesion by conferring proper complex assembly and/or maintenance. ..
Boor I, Nagtegaal M, Kamphorst W, van der Valk P, Pronk J, van Horssen J, et al
. MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet. Acta Neuropathol. 2007;114:403-10 pubmed
..We demonstrated a direct protein interaction between MLC1 and Kir4.1. From these results we conclude that MLC1 is associated with the DGC at astrocytic endfeet...
Ueda K, Valdivia C, Medeiros Domingo A, Tester D, Vatta M, Farrugia G, et al
. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A. 2008;105:9355-60 pubmed publisher
..Direct sequencing of SNTA1, the gene encoding alpha1-syntrophin, was performed in a cohort of LQTS patients that were negative for mutations ..
Lanciotti A, Brignone M, Camerini S, Serafini B, Macchia G, Raggi C, et al
. MLC1 trafficking and membrane expression in astrocytes: role of caveolin-1 and phosphorylation. Neurobiol Dis. 2010;37:581-95 pubmed publisher
..Because pathological mutations prevent MLC1 membrane expression, the identification of substances regulating MLC1 intracellular trafficking is potentially relevant for the therapy of MLC. ..
Kim J, Yeo S, Ryu H, Kim M, Kim D, Jo S, et al
. Astroglial loss and edema formation in the rat piriform cortex and hippocampus following pilocarpine-induced status epilepticus. J Comp Neurol. 2010;518:4612-28 pubmed publisher
..Subsequently, vasogenic edema results in extensive astroglial loss that may aggravate vasogenic edema...
Ort T, Maksimova E, Dirkx R, Kachinsky A, Berghs S, Froehner S, et al
. The receptor tyrosine phosphatase-like protein ICA512 binds the PDZ domains of beta2-syntrophin and nNOS in pancreatic beta-cells. Eur J Cell Biol. 2000;79:621-30 pubmed
..Thus, we propose that ICA512, through beta2-syntrophin and nNOS, links secretory granules with the actin cytoskeleton and signaling pathways involving nitric oxide...
Hagiwara Y, Sasaoka T, Araishi K, Imamura M, Yorifuji H, Nonaka I, et al
. Caveolin-3 deficiency causes muscle degeneration in mice. Hum Mol Genet. 2000;9:3047-54 pubmed
..No apparent muscle degeneration was observed in heterozygous mutant mice, indicating that pathological changes caused by caveolin-3 gene disruption were inherited through the recessive form of genetic transmission. ..
Thomas G, Shaul P, Yuhanna I, Froehner S, Adams M. Vasomodulation by skeletal muscle-derived nitric oxide requires alpha-syntrophin-mediated sarcolemmal localization of neuronal Nitric oxide synthase. Circ Res. 2003;92:554-60 pubmed