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Article

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

Human molecular genetics - 1 Aug 2005

Wang Liqun, Chen Xulin, Tang Baiqing, Hua Xiang, Klein-Szanto Andres, Kruger Warren D

Abstract excerpt

Cystathionine beta-synthase (CBS) deficiency is a recessive genetic disorder in humans characterized by elevated levels of total plasma homocysteine (tHcy) and frequent thrombosis in humans. The I278T mutation is the most common mutation found in human CBS-deficient patients. The T424N mutation was identified as a mutation in human CBS that could restore function to I278T in Saccharomyces cerevisiae. In this...

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Identifiers

PMID: 15972722
DOI: 10.1093/hmg/ddi224
PMCID: PMC1283068

Genes

CBS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.PMID 15972722Read ↗

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.Semantic proximity Read ↗

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