Naa10在发育和疾病中的作用。 - Suppr

Naa10 in development and disease.

作者信息

Myklebust Line M, Støve Svein I, Arnesen Thomas

机构信息

Department of Molecular Biology, University of Bergen, Bergen, Norway.

Department of Surgery, Haukeland University Hospital, Bergen, Norway.

出版信息

Oncotarget. 2015 Oct 27;6(33):34041-2. doi: 10.18632/oncotarget.5867.

DOI:10.18632/oncotarget.5867

PMID:26431279

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4741422/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4509/4741422/8a4ece7344b5/oncotarget-06-34041-g001.jpg

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Int Rev Cell Mol Biol. 2015;316:267-305. doi: 10.1016/bs.ircmb.2015.01.001. Epub 2015 Feb 25.

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.

Hum Mol Genet. 2015 Apr 1;24(7):1956-76. doi: 10.1093/hmg/ddu611. Epub 2014 Dec 8.

De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females.

Eur J Hum Genet. 2015 May;23(5):602-9. doi: 10.1038/ejhg.2014.150. Epub 2014 Aug 6.

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

J Med Genet. 2014 Mar;51(3):185-96. doi: 10.1136/jmedgenet-2013-101660. Epub 2014 Jan 15.

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.

Am J Hum Genet. 2011 Jul 15;89(1):28-43. doi: 10.1016/j.ajhg.2011.05.017. Epub 2011 Jun 23.

Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans.

Proc Natl Acad Sci U S A. 2009 May 19;106(20):8157-62. doi: 10.1073/pnas.0901931106. Epub 2009 May 6.

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Naa10 in development and disease.

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