Universität zu Köln

Linder, Bastian ORCID: 0000-0003-1203-3136, Fischer, Utz ORCID: 0000-0002-1465-6591 and Gehring, Niels H. ORCID: 0000-0001-7792-1164 (2015). mRNA metabolism and neuronal disease. FEBS Lett., 589 (14). S. 1598 - 1607. HOBOKEN: WILEY. ISSN 1873-3468

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Abstract

To serve as templates for translation eukaryotic mRNAs undergo an elaborate processing and maturation pathway. In eukaryotes this process comprises the synthesis of mRNA precursors, their processing and transport to the site of translation and eventually their decay. During the entire life cycle, mRNAs interact with distinct sets of trans-acting factors that determine their fate at any given phase of gene expression. Recent studies have shown that mutations in components acting in trans on mRNAs are frequent causes of a large variety of different human disorders. The etiology of most of these diseases is, however, only poorly understood, mostly because the consequences for mRNA-metabolism are unclear. Here we discuss three prominent genetic diseases that fall into this category, namely spinal muscular atrophy (SMA), retinitis pigmentosa (RP) and X-linked syndromic mental retardation (XLMR). Whereas SMA and RP can be directly linked to mRNA processing, XLMR results from mutations in the mRNA surveillance system. We discuss how defects in mRNA maturation and turnover might lead to the tissue specific defects seen in these diseases. (C) 2015 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Linder, Bastian UNSPECIFIED orcid.org/0000-0003-1203-3136 UNSPECIFIED Fischer, Utz UNSPECIFIED orcid.org/0000-0002-1465-6591 UNSPECIFIED Gehring, Niels H. UNSPECIFIED orcid.org/0000-0001-7792-1164 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-400954
DOI:	10.1016/j.febslet.2015.04.052
Journal or Publication Title:	FEBS Lett.
Volume:	589
Number:	14
Page Range:	S. 1598 - 1607
Date:	2015
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1873-3468
Language:	English
Faculty:	Faculty of Mathematics and Natural Sciences
Divisions:	Faculty of Mathematics and Natural Sciences > Department of Biology > Institute for Genetics
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SPINAL MUSCULAR-ATROPHY; DOMINANT RETINITIS-PIGMENTOSA; NONSENSE-MEDIATED DECAY; DETERMINING GENE-PRODUCT; EXON JUNCTION COMPLEXES; MOTOR CIRCUIT FUNCTION; HEXANUCLEOTIDE REPEAT; SPLICEOSOMAL SNRNPS; MENTAL-RETARDATION; REGULATORY SWITCH Multiple languages Biochemistry & Molecular Biology; Biophysics; Cell Biology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/40095