Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1 - Helmken, Claudia; Hofmann, Yvonne; Schoenen, Frank; Oprea, Gabriela; Raschke, Heidrun; Rudnik-Sch neborn, Sabine; Zerres, Klaus; Wirth, Brunhilde (Human genetics, 2003)
Keywords: Adult; Age of Onset; Base Sequence; Biological and medical sciences; Cell Line, Transformed; Classical genetics, quantitative genetics, hybrids; Cyclic AMP Response Element-Binding Protein; Ethylenediaminetetraacetic acid; Exons; Family; Female; Fundamental and applied biological sciences. Psychology; Genes; Genetics of eukaryotes. Biological and molecular evolution; Genotype; High-Temperature Requirement A Serine Peptidase 2; Homozygote; Human; Humans; Male; Medical research; Middle Aged; Mitochondrial Proteins; Muscular Atrophy, Spinal - genetics; Nerve Tissue Proteins - genetics; Proteins; RNA; RNA, Messenger - genetics; RNA-Binding Proteins; Serine Endopeptidases - genetics; Siblings; SMN Complex Proteins; Survival of Motor Neuron 1 Protein; Survival of Motor Neuron 2 Protein; Tumor proteins; Genetics; Central nervous system disease