Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants
Author:
Affiliation:
1. Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
2. Department of Pharmacology, University of Fribourg, Faculty of Science and Medicine, Fribourg, Switzerland
Funder
American Heart Association
Travere Therapeutics
University of Fribourg Research pool
Publisher
Informa UK Limited
Subject
Cell Biology,Molecular Biology
Link
https://www.tandfonline.com/doi/pdf/10.1080/10985549.2023.2284147
Reference40 articles.
1. Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions
2. Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria
3. The natural history of homocystinuria due to cystathionine b-synthase deficiency;Mudd SH;Am J Hum Genet,1985
4. Mudd SH, Levy HL, Kraus JP. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler K, Vogelstein B, editors. The metabolic and molecular bases of inherited disease. New York (NY): McGraw-Hill; 2001. Mudd #172 Reprint Status: In File.
5. How to fix a broken protein: restoring function to mutant human cystathionine β-synthase
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