SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy - Agrawal, Pankaj B.; Pierson, Christopher R.; Joshi, Mugdha; Liu, Xiaoli; Ravenscroft, Gianina; Moghadaszadeh, Behzad; Talabere, Tiffany; Viola, Marissa; Swanson, Lindsay C.; Haliloğlu, Göknur; Talim, Beril; Yau, Kyle S.; et al. (American journal of human genetics, 2014)
Keywords: Amino Acid Sequence; Animals; Cardiomyopathy; Cardiomyopathy, Dilated - genetics; Child; Child, Preschool; Disease Models, Animal; Female; Human subjects; Humans; Infant, Newborn; Kinases; Male; Mice; Mice, Knockout; Muscle Proteins - genetics; Muscle Proteins - metabolism; Mutation; Myocardium - cytology; Myofibrils - genetics; Myopathies, Structural, Congenital - genetics; Phosphatidylinositol Phosphates - biosynthesis; Protein Tyrosine Phosphatases, Non-Receptor - genetics; Protein Tyrosine Phosphatases, Non-Receptor - metabolism; Protein-Serine-Threonine Kinases - genetics; Protein-Serine-Threonine Kinases - metabolism; Proteins; Sarcoplasmic Reticulum - genetics; Sarcoplasmic Reticulum - pathology; Sequence Alignment; Sequence Analysis, DNA; Turkey; Two-Hybrid System Techniques; Yeast; Turkey