Abstract
The properties of 9 delta-aminolevulinate dehydratase (ALAD) mutants from patients with ALAD porphyria (ADP) were examined by bacterial expression of their complementary DNAs and by enzymologic and immunologic assays. ALADs were expressed as glutathione-S-transferase (GST) fusion proteins in Escherichia coli and purified by glutathione-affinity column chromatography. The GST-ALAD fusion proteins were recognized by anti-ALAD antibodies and were enzymatically active as ALAD. The enzymatic activities of 3 ALAD mutants, K59N, A274T, and V153M, were 69.9%, 19.3%, and 41.0% of that of the wild-type ALAD, respectively, whereas 6 mutants, G133R, K59N/G133R, F12L, R240W, V275M, and delTC, showed little activity (< 8%). These variations generally reflect the phenotype of ALAD in vivo in patients with ADP and indicate that GST-ALAD fusion protein is indeed useful for predicting of the phenotype of ALAD mutants. The location of F12L mutation in the enzyme's molecular structure indicates that its disturbance of the quaternary contact of the ALAD dimer appears to have a significant influence on the enzymatic activity. Mouse monoclonal antibodies to human ALAD were developed that specifically recognized a carboxy terminal portion of ALAD, or ...Continue Reading
References
Oct 15, 1979·Klinische Wochenschrift·M DossH Schmid
Apr 15, 1975·Annals of the New York Academy of Sciences·S SassaA Kappas
Nov 16, 1992·Clinica Chimica Acta; International Journal of Clinical Chemistry·R AkagiS Sassa
Oct 1, 1992·European Journal of Clinical Chemistry and Clinical Biochemistry : Journal of the Forum of European Clinical Chemistry Societies·S ThunellL Holmberg
May 1, 1992·The Journal of Clinical Investigation·N IshidaS Sassa
Apr 1, 1991·European Journal of Clinical Investigation·S SassaA Kappas
Jan 1, 1990·Journal of the Neurological Sciences·R MercelisJ J Martin
Oct 1, 1989·Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Für Klinische Chemie Und Klinische Biochemie·A HassounJ J Martin
Jul 15, 1988·Gene·D B Smith, K S Johnson
Sep 1, 1988·British Journal of Industrial Medicine·H Fujita, N Ishihara
Oct 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·J G WetmurR J Desnick
Jan 1, 1987·Journal of Clinical Chemistry and Clinical Biochemistry. Zeitschrift Für Klinische Chemie Und Klinische Biochemie·S ThunellJ Lundgren
Nov 1, 1987·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·H L BonkovskyG H Elder
Jun 20, 1986·Biochimica Et Biophysica Acta·H FujitaM Ikeda
Sep 1, 1986·Clinical Genetics·M DossH W Goedde
Jan 1, 1985·Human Genetics·H de VerneuilY Nordmann
Aug 1, 1973·Biochemical Medicine·J L GranickA Kappas
Jan 1, 1983·Methods in Enzymology·A Haid, M Suissa
Mar 1, 1984·Biochimica Et Biophysica Acta·C S ChangD Doyle
Jan 1, 1984·International Archives of Occupational and Environmental Health·M DossM Stoeppler
Mar 1, 1984·Toxicology·A KoizumiM Ikeda
Jul 16, 1984·Biochimica Et Biophysica Acta·H FujitaM Ikeda
Jan 1, 1982·Enzyme·S Sassa
Sep 1, 1996·Protein Expression and Purification·S M KäkönenM Karp
Nov 1, 1996·Nucleic Acids Research·A YacoubW A Deutsch
Nov 5, 1997·The Journal of Biological Chemistry·S RivasF de la Cruz
Dec 24, 1997·Nature Structural Biology·P T ErskineJ B Cooper
Mar 28, 1998·Seminars in Liver Disease·S Sassa
May 16, 1998·Blood Cells, Molecules & Diseases·H KannoS Miwa
Oct 16, 1999·British Journal of Haematology·R AkagiS Sassa
Jun 1, 1989·Fish Physiology and Biochemistry·M P SchreibmanR A Eckhardt
Citations
Oct 9, 2002·Clinica Chimica Acta; International Journal of Clinical Chemistry·Yves Nordmann, Hervé Puy
Oct 9, 2009·The Journal of Biological Chemistry·Sarah H LawrenceEileen K Jaffe
May 29, 2012·The Plant Cell·Weijiang TangRongcheng Lin
Jul 9, 2004·International Journal of Hematology·Masao KondoShigeru Sassa
Nov 19, 2008·Journal of Clinical Biochemistry and Nutrition·Rikako Inoue, Reiko Akagi
May 9, 2014·European Journal of Internal Medicine·Paolo VenturaUNKNOWN Gruppo Italiano Porfiria (GrIP)
Nov 1, 2011·Archives of Biochemistry and Biophysics·Eileen K Jaffe, Sarah H Lawrence
Jul 5, 2011·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Neil G Simon, Geoffrey K Herkes
Jan 6, 2007·Biochemical and Biophysical Research Communications·Tsuyoshi TaharaYasuyoshi Watanabe
Apr 21, 2011·ChemMedChem·Sarah H LawrenceEileen K Jaffe
Apr 5, 2014·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Ashwani K SingalBrendan M McGuire
Dec 14, 2005·Molecular Genetics and Metabolism·Reiko AkagiShigeru Sassa
Sep 17, 2005·Cancer Detection and Prevention·Shuhei NodaTakashi Imai
Jan 20, 2007·American Journal of Human Genetics·Eileen K Jaffe, Linda Stith
Jun 25, 2017·Molecular Genetics and Metabolism·Eileen K Jaffe
Aug 5, 2003·Nature Structural Biology·Sabine BreinigEileen K Jaffe
Oct 12, 2017·Blood·Mary P LeeJames Douglas Engel
Jul 2, 2015·Current Protocols in Human Genetics·Vaithamanithi-Mudumbai Sadagopa Ramanujam, Karl Elmo Anderson
Dec 27, 2005·The Journal of Biological Chemistry·Lei TangEileen K Jaffe
Aug 11, 2004·Journal of Inherited Metabolic Disease·M O DossS Sassa
Jul 31, 2002·Photodermatology, Photoimmunology & Photomedicine·Shigeru Sassa
Dec 18, 2020·Frontiers in Molecular Biosciences·Eileen K Jaffe
Apr 1, 2021·Muscle & Nerve·Rachana K Gandhi MehtaHerbert L Bonkovsky