Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants-Reference-Cited by-同舟云学术

Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants

Published:2023-12-02 Issue:12 Volume:43 Page:664-674
ISSN:1098-5549
Container-title:Molecular and Cellular Biology
language:en
Short-container-title:Molecular and Cellular Biology

Author:

Collard Renata¹,Majtan Tomas¹²^ORCID

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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1. Cellular turnover and degradation of the most common missense cystathionine beta‐synthase variants causing homocystinuria;Protein Science;2024-07-23

2. Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?;Journal of Inherited Metabolic Disease;2024-06-14