Alexandra Deppe

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Protein C is a precursor to a serine protease present in the plasma that plays an important physiological role in the regulation of blood coagulation. Mutations in the human protein C gene have been linked to some cases of Morbus Perthes disease, a thrombophilic condition that results in aseptic necrosis of the femur head and neck. We have cloned the canine(More)
The proteolipid protein (PLP) gene codes for the most abundant protein in the central nervous system (CNS) myelin of higher vertebrates. Its function in the myelin sheath is not clear however, a series of point mutations have been shown to have devastating effects on the myelin. The structure of the PLP genes is highly conserved, comprising seven exons that(More)
Mutations in the gene for gamma-sarcoglycan (SGCG) located on HSA 13q12 are responsible for limb girdle muscular dystrophy (LGMD2C) in human. Here we report the cloning of the canine SGCG gene together with its genomic structure and several intragenic polymorphisms. The coding part of the canine SGCG contains seven exons spanning at least 70 kb of genomic(More)
Dystroglycan is a laminin binding protein, which provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix. It is also involved in the organization of basement membranes. So far the genomic organization of the dystroglycan gene DAG1 has not been completely investigated. Here we report the cloning and sequencing of 162(More)
Vacuolar proton-translocating ATPases (V-ATPase) are multisubunit enzyme complexes located in the membranes of eukaryotic cells regulating cytoplasmic pH. So far, nothing is known about the genomic organization and chromosomal location of the various subunit genes in higher eukaryotes. Here we describe the isolation and analysis of a cDNA coding for the 54-(More)
Ryanodine receptor 3 is a calcium channel located in the membrane of the endoplasmic reticulum. We isolated eight overlapping PAC clones from the porcine ryanodine receptor 3 gene (RYR3) and determined the DNA sequences of the first and second exon together with 5.8 kb of 5' flanking region and 10.3 kb of intron sequences. By comparing the porcine genomic(More)
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