Cystathionine β-synthase mutations: effect of mutation topology on folding and activity-Reference-Cited by-同舟云学术

Cystathionine β-synthase mutations: effect of mutation topology on folding and activity

Published:2010-05-18 Issue:7 Volume:31 Page:809-819
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Kožich Viktor,Sokolová Jitka,Klatovská Veronika,Krijt Jakub,Janošík Miroslav,Jelínek Karel,Kraus Jan P.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21273/fullpdf

Reference51 articles.

1. HspB8, a small heat shock protein mutated in human neuromuscular disorders, has in vivo chaperone activity in cultured cells;Carra;Hum Mol Genet,2005

2. Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period;Chen;J Med Invest,1999

3. Contrasting behaviors of mutant cystathionine β-synthase enzymes associated with pyridoxine response;Chen;Hum Mutat,2006

4. Characterisation of five missense mutations in the cystathionine β-synthase gene from three patients with B6-nonresponsive homocystinuria;Dawson;Eur J Hum Genet,1997

5. Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system;de Franchis;Hum Mol Genet,1994

Cited by 54 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

3. Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein;Biomedicines;2024-04-23

4. Architecture and regulation of filamentous human cystathionine beta-synthase;Nature Communications;2024-04-04

5. Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants;Molecular and Cellular Biology;2023-12-02