Correction of Cystathionine β‐Synthase Deficiency in Mice by Treatment with Proteasome Inhibitors. Issue 8 (13th May 2013)

• Record Type: Journal Article
• Authors: Gupta, Sapna; Wang, Liqun; Anderl, Janet; Slifker, Michael J.; Kirk, Christopher; Kruger, Warren D.
• Is Part Of: Human mutation. Volume 34:Issue 8(2013:Aug.)
• Page Start: 1085
• Page End: 1093
• Publication Date: 2013-05-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22335
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22335-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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. Our data show that treatment with proteostasis modulators can restore activity to mutant misfolded CBS enzymes. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg2718nf8n" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>