Cystathionine ß-synthase deficiency: Of mice and men.
Mol Genet Metab
; 121(3): 199-205, 2017 07.
Article
en En
| MEDLINE
| ID: mdl-28583326
ABSTRACT
Cystathionine ß-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 60years 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.
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Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Cistationina betasintasa
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Errores Innatos del Metabolismo
Límite:
Animals
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Humans
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Male
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Año:
2017
Tipo del documento:
Article