Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyria.

[1]  J. Prieto,et al.  Effect of adeno-associated virus serotype and genomic structure on liver transduction and biodistribution in mice of both genders. , 2009, Human gene therapy.

[2]  James M. Wilson,et al.  Adeno-Associated Virus Capsid Structure Drives CD4-Dependent CD8+ T Cell Response to Vector Encoded Proteins1 , 2009, The Journal of Immunology.

[3]  J. Prieto,et al.  Transcriptomic effects of Tet-on and mifepristone-inducible systems in mouse liver. , 2008, Human gene therapy.

[4]  M. Kiernan,et al.  Nerve function and dysfunction in acute intermittent porphyria. , 2008, Brain : a journal of neurology.

[5]  María Mercedes Segura,et al.  Advances in helper-dependent adenoviral vector research. , 2008, Current gene therapy.

[6]  Xi Jin,et al.  Gene therapy: regulations, ethics and its practicalities in liver disease. , 2008, World journal of gastroenterology.

[7]  M. Badminton,et al.  Liver transplantation for porphyria: Who, when, and how? , 2007, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

[8]  P. Harper,et al.  Safety, Pharmacokinetics and Pharmocodynamics of Recombinant Human Porphobilinogen Deaminase in Healthy Subjects and Asymptomatic Carriers of the Acute Intermittent Porphyria Gene Who Have Increased Porphyrin Precursor Excretion , 2007, Clinical pharmacokinetics.

[9]  K. Anderson,et al.  Disorders of Heme Biosynthesis , 2006 .

[10]  J. Sommer,et al.  Effects of transient immunosuppression on adenoassociated, virus-mediated, liver-directed gene transfer in rhesus macaques and implications for human gene therapy. , 2006, Blood.

[11]  H. Puy,et al.  May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population. , 2006, Physiological research.

[12]  M. Badminton,et al.  Molecular mechanisms of dominant expression in porphyria , 2005, Journal of Inherited Metabolic Disease.

[13]  H. Bonkovsky,et al.  Recommendations for the Diagnosis and Treatment of the Acute Porphyrias , 2005, Annals of Internal Medicine.

[14]  M. Hoffmann,et al.  Influence of radiation protocols on graft-vs-host disease incidence after bone-marrow transplantation in experimental models. , 2005, Methods in molecular medicine.

[15]  T. Naidich,et al.  Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. , 2004, Archives of neurology.

[16]  A. Johansson,et al.  Adenoviral-mediated expression of porphobilinogen deaminase in liver restores the metabolic defect in a mouse model of acute intermittent porphyria. , 2004, Molecular therapy : the journal of the American Society of Gene Therapy.

[17]  A. Johansson,et al.  Non-viral delivery of the porphobilinogen deaminase cDNA into a mouse model of acute intermittent porphyria. , 2004, Molecular genetics and metabolism.

[18]  M. Badminton,et al.  Liver transplantation as a cure for acute intermittent porphyria , 2004, The Lancet.

[19]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[20]  A. Heagerty,et al.  A novel combination of promoter and enhancers increases transgene expression in vascular smooth muscle cells in vitro and coronary arteries in vivo after adenovirus-mediated gene transfer , 2003, Gene Therapy.

[21]  J. Prieto,et al.  In vitro and in vivo comparative study of chimeric liver-specific promoters. , 2003, Molecular therapy : the journal of the American Society of Gene Therapy.

[22]  M. Baumgartner,et al.  Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. , 1999, The Journal of clinical investigation.

[23]  R. Lindberg,et al.  Acute Porphyrias: Pathogenesis of Neurological Manifestations , 1998, Seminars in liver disease.

[24]  A. Aguzzi,et al.  Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria , 1996, Nature Genetics.

[25]  H. Bonkovsky,et al.  Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. , 1991, The American journal of gastroenterology.

[26]  W. Schreiber,et al.  A rapid and accurate spectrofluorometric method for quantification and screening of urinary porphyrins. , 1988, Clinical chemistry.

[27]  P. Anderson,et al.  Purification and properties of uroporphyrinogen I synthase from human erythrocytes. Identification of stable enzyme-substrate intermediates. , 1980, The Journal of biological chemistry.

[28]  K. Schaller,et al.  European standardized method for the determination of delta-aminolevulinic acid dehydratase activity in blood. , 1974, Zeitschrift fur klinische Chemie und klinische Biochemie.