A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
Priya
P
Gami
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
Christina
C
Murray
Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.
Lucia
L
Schottlaender
Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.
Conceição
C
Bettencourt
Reta Lila Weston Institute for Neurological Studies, UCL Institute of Neurology, London, WC1N 1PJ, UK.
Eduardo
E
De Pablo Fernandez
Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
Ese
E
Mudanohwo
Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, UK.
Sarah
S
Mizielinska
Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK.
James M
JM
Polke
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
Janice L
JL
Holton
Department of Neurodegenerative Disease, UCL Institute of Neurology, London, WC1N 3BG, UK.
Adrian M
AM
Isaacs
Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 3BG, UK.
Henry
H
Houlden
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK.
Tamas
T
Revesz
Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, WC1N 1PJ, UK. T.Lashley@ucl.ac.uk.
Tammaryn
T
Lashley
D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D004268:DNA-Binding Proteins / Q000378:metabolism*; D004151:Dipeptides; D006801:Humans; D011506:Proteins / Q000235:genetics* / Q000378:metabolism*
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; D004151:Dipeptides; D011506:Proteins