PuSH - Publication Server of Helmholtz Zentrum München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Mori, K.* ; Weng, S.M.* ; Arzberger, T.* ; May, S.* ; Rentzsch, K.* ; Kremmer, E. ; Schmid, B.* ; Kretzschmar, H.A.* ; Cruts, M.* ; van Broeckhoven, C.* ; Haass, C.* ; Edbauer, D.*

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

Science 339, 1335-1338 (2013)
Publ. Version/Full Text Volltext DOI PMC
Free by Publisher
Open Access Green as soon as Postprint is submitted to ZB.
Expansion of a GGGGCC hexanucleotide repeat upstream of the C9orf72 coding region is the most common cause of familial frontotemporal lobar degeneration and amyotrophic lateral sclerosis (FTLD/ALS), but the pathomechanisms involved are unknown. As in other FTLD/ALS variants, characteristic intracellular inclusions of misfolded proteins define C9orf72 pathology, but the core proteins of the majority of inclusions are still unknown. Here, we found that most of these characteristic inclusions contain poly-(Gly-Ala) and, to a lesser extent, poly-(Gly-Pro) and poly-(Gly-Arg) dipeptide-repeat proteins presumably generated by non-ATG-initiated translation from the expanded GGGGCC repeat in three reading frames. These findings directly link the FTLD/ALS-associated genetic mutation to the predominant pathology in patients with C9orf72 hexanucleotide expansion.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Scopus
Cited By
Altmetric
31.027
8.060
709
809
Tags
Annotations
Special Publikation
Hide on homepage

Edit extra information
Edit own tags
Private
Edit own annotation
Private
Hide on publication lists
on hompage
Mark as special
publikation
Publication type Article: Journal article
Document type Scientific Article
Keywords Amyotrophic-lateral-sclerosis ; Frontotemporal Dementia ; Hexanucleotide Repeat ; Expansion ; Identification ; Initiation ; Ftd ; Als
Language english
Publication Year 2013
HGF-reported in Year 2013
ISSN (print) / ISBN 0036-8075
e-ISSN 1095-9203
Journal Science
Quellenangaben Volume: 339, Issue: 6125, Pages: 1335-1338 Article Number: , Supplement: ,
Publisher American Association for the Advancement of Science (AAAS)
Reviewing status Peer reviewed
Institute(s) CF Monoclonal Antibodies (CF-MAB)
Institute of Molecular Immunology (IMI)
POF-Topic(s) 30504 - Mechanisms of Genetic and Environmental Influences on Health and Disease
Research field(s) Immune Response and Infection
PSP Element(s) G-501760-001
G-501793-001
DOI 10.1126/science.1232927
WOS ID WOS:000316053400042
Scopus ID 84874962380
PubMed ID 23393093
Erfassungsdatum 2013-04-11
[➜Report correction]