Ontology highlight
ABSTRACT:
SUBMITTER: Gupta S
PROVIDER: S-EPMC3941476 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Gupta Sapna S Wang Liqun L Anderl Janet J Slifker Michael J MJ Kirk Christopher C Kruger Warren D WD
Human mutation 20130513 8
Cystathionine beta-synthase (CBS) deficiency is an inborn error of metabolism characterized by extremely elevated levels of plasma total homocysteine. The vast majority of CBS-deficient patients have missense mutations located in the CBS gene that result in the production of either misfolded or unstable protein. Here, we examine the effect of proteasome inhibitors on mutant CBS function using two different mouse models of CBS deficiency. These mice lack mouse CBS and express a missense mutant hu ...[more]