A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

Renate K Hukema; Fréderike W Riemslagh; Shamiram Melhem; Herma C van der Linde; Lies-Anne Wfm Severijnen; Dieter Edbauer; Alex Maas; Nicolas Charlet-Berguerand; Rob Willemsen; John C van Swieten

doi:10.1186/s40478-014-0166-y

A new inducible transgenic mouse model for C9orf72-associated GGGGCC repeat expansion supports a gain-of-function mechanism in C9orf72-associated ALS and FTD

Acta Neuropathol Commun. 2014 Dec 13:2:166. doi: 10.1186/s40478-014-0166-y.

Authors

Affiliations

¹ Department of Clinical Genetics, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. r.hukema@erasmusmc.nl.
² , PO Box 2040, , 3000 CA, Rotterdam, The Netherlands. r.hukema@erasmusmc.nl.
³ Department of Clinical Genetics, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. f.w.riemslagh@erasmusmc.nl.
⁴ Department of Neurology, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. f.w.riemslagh@erasmusmc.nl.
⁵ Department of Neurology, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. s.melhem@erasmusmc.nl.
⁶ Department of Clinical Genetics, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. h.vanderlinde@erasmusmc.nl.
⁷ Department of Clinical Genetics, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. e.severijnen@erasmusmc.nl.
⁸ German Center for Neurodegenerative Diseases, 81337, Munich, Germany. dieter.edbauer@med.uni-muenchen.de.
⁹ Department of Cell Biology, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. a.maas.1@erasmusmc.nl.
¹⁰ Department of Neurobiology and Genetics, IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France. ncharlet@igbmc.fr.
¹¹ Department of Clinical Genetics, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. r.willemsen@erasmusmc.nl.
¹² Department of Neurology, Erasmus Medical Center, 3015 CE, Rotterdam, The Netherlands. j.c.vanswieten@erasmusmc.nl.
¹³ Department of Neurology, Neuroscience Campus Amsterdam, 1007 MB, Amsterdam, The Netherlands. j.c.vanswieten@erasmusmc.nl.

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Retracted Publication

MeSH terms

Amyotrophic Lateral Sclerosis / genetics
Amyotrophic Lateral Sclerosis / metabolism*
Animals
Brain / metabolism
C9orf72 Protein
DNA Repeat Expansion*
Disease Models, Animal*
Frontotemporal Dementia / genetics
Frontotemporal Dementia / metabolism*
Humans
Inclusion Bodies / metabolism
Mice, Transgenic*
Proteins / genetics*
Proteins / metabolism
Ubiquitin / metabolism

Substances

C9orf72 Protein
C9orf72 protein, human
Proteins
Ubiquitin