核糖体生物合成缺陷是核糖体病脱发、神经缺陷、内分泌病（ANE）综合征的基础。 - Suppr

Faulty ribosome biogenesis underlies the ribosomopathy alopecia, neurological defects, endocrinopathy (ANE) syndrome.

作者信息

Gerton Jennifer L

机构信息

Stowers Institute for Medical Research, Kansas City, MO 64110;

Department of Biochemistry and Molecular Biology, University of Kansas Medical Center, Kansas City, KS 66160.

出版信息

Proc Natl Acad Sci U S A. 2021 Jun 15;118(24). doi: 10.1073/pnas.2107030118.

DOI:10.1073/pnas.2107030118

PMID:34035178

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8214674/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9af0/8214674/8fe6b2301242/pnas.2107030118fig01.jpg

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本文引用的文献

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome.

Proc Natl Acad Sci U S A. 2021 May 11;118(19). doi: 10.1073/pnas.2017777118.

Ribosomopathies: Old Concepts, New Controversies.

Trends Genet. 2019 Oct;35(10):754-767. doi: 10.1016/j.tig.2019.07.004. Epub 2019 Jul 31.

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.

Genetics. 2017 Sep;207(1):9-27. doi: 10.1534/genetics.117.203067.

The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome.

Elife. 2016 Apr 14;5:e16381. doi: 10.7554/eLife.16381.

RBM28, a protein deficient in ANE syndrome, regulates hair follicle growth via miR-203 and p63.

Exp Dermatol. 2015 Aug;24(8):618-22. doi: 10.1111/exd.12737. Epub 2015 May 26.

A protein interaction map of the LSU processome.

Genes Dev. 2015 Apr 15;29(8):862-75. doi: 10.1101/gad.256370.114.

Both endonucleolytic and exonucleolytic cleavage mediate ITS1 removal during human ribosomal RNA processing.

J Cell Biol. 2013 Mar 4;200(5):577-88. doi: 10.1083/jcb.201207131. Epub 2013 Feb 25.

ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.

Eur J Endocrinol. 2010 Jun;162(6):1021-5. doi: 10.1530/EJE-10-0077. Epub 2010 Mar 15.

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis.

Am J Hum Genet. 2008 May;82(5):1114-21. doi: 10.1016/j.ajhg.2008.03.014. Epub 2008 Apr 24.

Human RBM28 protein is a specific nucleolar component of the spliceosomal snRNPs.

Biol Chem. 2006 Oct-Nov;387(10-11):1455-60. doi: 10.1515/BC.2006.182.

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Faulty ribosome biogenesis underlies the ribosomopathy alopecia, neurological defects, endocrinopathy (ANE) syndrome.

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Faulty ribosome biogenesis underlies the ribosomopathy alopecia, neurological defects, endocrinopathy (ANE) syndrome.

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