Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man
نویسندگان
چکیده
The authors also aknowledge the financial support by the "Rare Disease Initiative Zurich (radiz) program from the University of Zurich". Copyright: © 2015 Rivera-Barahona et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
منابع مشابه
Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man
The spf/ash mouse model of ornithine transcarbamylase (OTC) deficiency, a severe urea cycle disorder, is caused by a mutation (c.386G>A; p.R129H) in the last nucleotide of exon 4 of the Otc gene, affecting the 5' splice site and resulting in partial use of a cryptic splice site 48 bp into the adjacent intron. The equivalent nucleotide change and predicted amino acid change is found in OTC defic...
متن کاملEfficient mitochondrial import of newly synthesized ornithine transcarbamylase (OTC) and correction of secondary metabolic alterations in spf(ash) mice following gene therapy of OTC deficiency.
BACKGROUND The mouse strain sparse fur with abnormal skin and hair (spf(ash)) is a model for the human ornithine transcarbamylase (OTC) deficiency, an X-linked inherited urea cycle disorder. The spf(ash) mouse carries a single base-pair mutation in the OTC gene that leads to the production of OTC enzyme at 10% of the normal level. MATERIALS AND METHODS Recombinant adenoviruses carrying either...
متن کاملAcute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency
The urea cycle functions to incorporate ammonia, generated by normal metabolism, into urea. Urea cycle disorders (UCDs) are caused by loss of function in any of the enzymes responsible for ureagenesis, and are characterized by life-threatening episodes of acute metabolic decompensation with hyperammonemia (HA). A prospective analysis of interim HA events in a cohort of individuals with ornithin...
متن کاملEctopic correction of ornithine transcarbamylase deficiency in sparse fur mice.
The sparse fur (spf) mutant mouse is a model for human X-linked ornithine transcarbamylase (OTC) deficiency. Human OTC cDNA placed under transcriptional control of the mouse OTC promoter was microinjected into fertilized oocytes of spf mice. Two founder lines of transgenic mice were phenotypically and biochemically corrected for OTC deficiency by the expression of the human gene at high levels ...
متن کاملInteraction between murine spf-ash mutation and genetic background yields different metabolic phenotypes.
The spf-ash mutation in mice results in reduced hepatic and intestinal ornithine transcarbamylase. However, a reduction in enzyme activity only translates in reduced ureagenesis and hyperammonemia when an unbalanced nitrogen load is imposed. Six-week-old wild-type control and spf-ash mutant male mice from different genetic backgrounds (B6 and ICR) were infused intravenously with [(13)C(18)O]ure...
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عنوان ژورنال:
دوره 10 شماره
صفحات -
تاریخ انتشار 2015