Functional studies and proteomics in platelets and fibroblasts reveal a lysosomal defect with increased cathepsin-dependent apoptosis in ATP1A3 defective alternating hemiplegia of childhood - Di Michele, Michela; Goubau, Christophe; Waelkens, Etienne; Thys, Chantal; De Vos, Rita; Overbergh, Lut; Schyns, Tsveta; Buyse, Gunnar; Casaer, Paul; Van Geet, Chris; Freson, Kathleen (Journal of proteomics, 2013)
Keywords: adenosinetriphosphatase; Alternating hemiplegia of childhood; Apoptosis; Apoptosis - genetics; Blood Platelets; Blood Platelets - metabolism; Cathepsin; cathepsin B; Cathepsin B - genetics; Cathepsin B - metabolism; childhood; Electrophoresis, Gel, Two-Dimensional; enzymology; Female; Fibroblasts; Fibroblasts - metabolism; gene expression regulation; genetics; granules; Hemiplegia; Hemiplegia - genetics; Hemiplegia - metabolism; Hemiplegia - pathology; heterozygosity; Humans; Infant; Infant, Newborn; Life Sciences; lysosomes; Lysosomes - enzymology; Male; metabolism; missense mutation; pathogenesis; pathology; patients; Platelets; protein synthesis; proteins; Proteomics; Sodium-Potassium-Exchanging ATPase; Sodium-Potassium-Exchanging ATPase - genetics; Transcriptome; Fibroblasts; Cathepsin; Alternating hemiplegia of childhood; Platelets; Proteomics; Apoptosis