C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins-Reference-Cited by-同舟云学术

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

Published:2014-09-05 Issue:6201 Volume:345 Page:1192-1194
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Mizielinska Sarah¹,Grönke Sebastian²,Niccoli Teresa²³,Ridler Charlotte E.¹,Clayton Emma L.¹,Devoy Anny¹,Moens Thomas¹³,Norona Frances E.¹,Woollacott Ione O. C.¹,Pietrzyk Julian¹,Cleverley Karen¹,Nicoll Andrew J.¹⁴,Pickering-Brown Stuart⁵,Dols Jacqueline²,Cabecinha Melissa³,Hendrich Oliver²,Fratta Pietro¹⁶,Fisher Elizabeth M. C.¹⁶,Partridge Linda²³,Isaacs Adrian M.¹

Affiliation:

1. Department of Neurodegenerative Disease, UCL Institute of Neurology, London WC1N 3BG, UK.

2. Max Planck Institute for Biology of Ageing, 50931 Cologne, Germany.

3. Department of Genetics, Evolution and Environment, Institute of Healthy Ageing, University College London, London WC1E 6BT, UK.

4. MRC Prion Unit, UCL Institute of Neurology, London WC1N 3BG, UK.

5. Institute of Brain, Behaviour and Mental Health, Faculty of Human and Medical Sciences, University of Manchester, Manchester M13 9PT, UK.

6. MRC Centre for Neuromuscular Disease, UCL Institute of Neurology, London WC1N 3BG, UK.

Abstract

Dipeptide repeat peptides on the attack Certain neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), are associated with expanded dipeptides translated from RNA transcripts of disease-associated genes (see the Perspective by West and Gitler). Kwon et al. show that the peptides encoded by the expanded repeats in the C9orf72 gene interfere with the way cells make RNA and kill cells. These effects may account for how this genetic form of ALS causes disease. Working in Drosophila , Mizielinska et al. aimed to distinguish between the effects of repeat-containing RNAs and the dipeptide repeat peptides that they encode. The findings provide evidence that dipeptide repeat proteins can cause toxicity directly. Science , this issue p. 1139 and p. 1192 ; see also p. 1118

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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