Chemical Probes in Biology

Science at the Interface of Chemistry, Biology and Medicine
2004
ISBN: 978-1-4020-7683-1
Verlag: Springer US

Buch, Englisch, 243 Seiten, Format (B × H): 155 mm x 235 mm, Gewicht: 639 g

Ornithine Transcarbamylase: Basic Science and Clinical Considerations, written by a leading expert on OTC, for the first time assembles and analyzes more than 40 years of basic science and clinical research. It will be the definitive resource on the topic for pediatricians, geneticists, and internists who care for patients with OTC deficiency, as well as for basic scientists and genetic researchers who study the urea cycle in mammals and the arginine biosynthetic pathway in bacteria and fungi.

Zielgruppe

Research

Autoren/Hrsg.

Snodgrass, Philip J.

Fachgebiete

• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Vorklinische Medizin: Grundlagenfächer Humangenetik
• Naturwissenschaften Biowissenschaften Biochemie (nichtmedizinisch)
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Innere Medizin
• Naturwissenschaften Biowissenschaften Molekularbiologie
• Medizin | Veterinärmedizin Medizin | Public Health | Pharmazie | Zahnmedizin Klinische und Innere Medizin Pädiatrie, Neonatologie

Inhaltsverzeichnis

1 Gene Structure, Regulation and Function.- 2 Synthesis, Processing and Assembly.- 3 Molecular and Kinetic Characteristics.- 4 Active Site and Other Essential Residues.- 5 Molecular Pathology of OTC Deficiency.- 6 Animal Models of OTC Deficiency and Their Gene Therapy.- Sparse-fur mutant mouse.- Sparse-furash mutant mouse.- Gene therapy of mutant mice.- 7 Clinical and Laboratory Findings in OTC Deficiency.- OTC deficiency in females.- OTC deficiency in males.- Plasma amino acid levels in OTC deficiency.- Plasma amino acid levels from the literature.- Case series of OTC deficiency from the literature.- Symptoms of OTC deficiency precipitated by valproic acid.- Rett syndrome and hyperammonemia.- 8 Diagnosis and Treatment of OTC Deficiency.- Diagnosis.- Loading tests.- Neuroimaging, EEG and pathology in liver and brain.- Treatment.- Gene replacement therapy.- 9 Induction and Suppression of OTC and Urea Cycle Enzymes in Bacteria, Fungi and Mammals.- Development of fetal and neonatal OTC and urea cycle enzymes.- References.- Biographical Note.