title: Determination, activity and biological role of adenylosuccinate lyase in blood cells.
abstract: Adenylosuccinate lyase deficiency, which is associated with severe mental retardation and autistic features, was discovered in 1984. Since then this enzyme has been analyzed in many human tissues and it is now generally agreed that screening for this enzyme defect should be performed in all unexplained neurological diseases. The aim of the present study was to analyze adenylosuccinate lyase activity in blood cells by a fast simple method adaptable to screening purposes. The activity was also analyzed in B-lymphocytes from patients with B-cell chronic lymphocytic leukemia. The biological role of adenylosuccinate lyase and its importance in regulating cellular levels of AMP is discussed.
authors: Istituto di Biochimica e di Enzimologia, Università di Siena Complesso Nuovi Istituti Biologici, Italy.
authors: A
authors: A
authors: Tabucchi
authors: F
authors: F
authors: Carlucci
authors: F
authors: F
authors: Rosi
authors: R
authors: R
authors: Guerranti
authors: E
authors: E
authors: Marinello
mesh_terms: D000227:Adenine Nucleotides / Q000097:blood; D000264:Adenylosuccinate Lyase / Q000097:blood* / Q000502:physiology; D000368:Aged; D001402:B-Lymphocytes / Q000201:enzymology; D002851:Chromatography, High Pressure Liquid; D006801:Humans; D015448:Leukemia, B-Cell / Q000201:enzymology; D008875:Middle Aged; D013056:Spectrophotometry, Ultraviolet
chemical_list: D000227:Adenine Nucleotides; D000264:Adenylosuccinate Lyase