期刊
MOLECULAR GENETICS AND METABOLISM
卷 121, 期 3, 页码 199-205出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2017.05.011
关键词
Homocystinuria; Aminoaciduria; Mouse model; Methionine; Recessive; Genetic disorder
资金
- NIH [CA06927, DK101404, GM098772]
- homocystinuria research foundation
Cystathionine beta-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236,200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60 years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes. To try and answer these questions, several groups have developed mouse models on CBS deficiency. In this article, we will review various mouse models of CBS deficiency and discuss how these mouse models compare to human CBS deficient patients. (C) 2017 Elsevier Inc. All rights reserved.
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