We have located links that may give you full text access.
Journal Article
Research Support, U.S. Gov't, P.H.S.
Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase.
Molecular Genetics and Metabolism 1998 August
Hyperargininemia is a rare autosomal recessive disorder that results from a deficiency of hepatic type I arginase. At the genetic level, this deficiency in arginase activity is a consequence of random point mutations throughout the gene that lead to premature termination of the protein or to substitution mutations. Given the high degree of sequence homology between human liver and rat liver enzymes, we have mapped both patient and nonpatient mutations of the human enzyme onto the structure of the rat liver enzyme to rationalize the molecular basis for the low activities of these mutant arginases. Mutations identified in hyperargininemia patients affect the structure and function of the enzyme by compromising active-site residues, packing interactions in the protein scaffolding, and/or quaternary structure by destabilizing the assembly of the arginase trimer.
Full text links
Related Resources
Trending Papers
Insomnia in older adults: A review of treatment options.Cleveland Clinic Journal of Medicine 2025 January 2
How We Treat ANCA-Associated Vasculitis: A Focus on the Maintenance Therapy.Journal of Clinical Medicine 2025 January 2
Allergic rhinitis.Allergy, Asthma, and Clinical Immunology 2024 December 27
Chronic Lymphocytic Leukemia: 2025 Update on the Epidemiology, Pathogenesis, Diagnosis, and Therapy.American Journal of Hematology 2025 January 28
Sepsis-induced cardiogenic shock: controversies and evidence gaps in diagnosis and management.Journal of Intensive Care 2025 January 2
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2025 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app