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Frontotemporal lobar degeneration (FTLD)
[2014] [2013] [2012] [2010] [2009] [2008]
- Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis (2014)
Acta Neuropathol. 2014 Mar 12. [Epub ahead of print]. - The FTLD risk factor TMEM106B and MAP6 control dendritic trafficking of lysosomes (2014)
EMBO J. 2014 Jan 8. [Epub ahead of print].
- Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
Acta Neuropathol. 2013 Dec;126(6):881-93. doi: 10.1007/s00401-013-1189-3. Epub 2013 Oct 17. - Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations(2013)
Acta Neuropathol. 2013 Dec;126(6):859-79. doi: 10.1007/s00401-013-1181-y. Epub 2013 Oct 6.. - hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations(2013)
Acta Neuropathol. 2013 Mar;125(3):413-23. doi: 10.1007/s00401-013-1088-7. Epub 2013 Feb 5. - The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS.(2013)
Science. 2013 Feb 7. [Epub ahead of print]. - Fused in sarcoma (FUS): An oncogene goes awry in neurodegeneration.(2013)
Mol Cell Neurosci. 2013 Apr 2. pii: S1044-7431(13)00048-1. doi: 10.1016/j.mcn.2013.03.006. [Epub ahead of print]. - Stress granules in neurodegeneration - lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma.(2013)
FEBS J. 2013 Apr 15. doi: 10.1111/febs.12287. [Epub ahead of print].
- Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS.(2012)
EMBO J. 2012 Nov 14;31(22):4258-75. doi: 10.1038/emboj.2012.261. Epub 2012 Sep 11. - Membrane Orientation and Subcellular Localization of Transmembrane Protein 106B (TMEM106B), a Major Risk Factor for Frontotemporal Lobar Degeneration.(2012)
J Biol Chem. 2012 Jun 1;287(23):19355-65. Epub 2012 Apr 17. - Requirements for Stress Granule Recruitment of Fused in Sarcoma (FUS) and TAR DNA-binding Protein of 43 kDa (TDP-43).(2012)
J Biol Chem. 2012 Jun 29;287(27):23079-94. Epub 2012 May 4. - FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations (2012)
Brain. 2011 Sep;134(Pt 9):2595-609. Epub 2011 Aug 19. - Cellular ageing, increased mortality and FTLD-TDP-associated neuropathology in progranulin knockout mice (2012)
J Pathol. 2012 Jun 25. doi: 10.1002/path.4043. [Epub ahead of print]
- TDP-43 and FUS: a nuclear affair (2011)
Trends Neurosci. 2011 Jun 21. [Epub ahead of print] - Rescue of Progranulin Deficiency Associated with Frontotemporal Lobar Degeneration by Alkalizing Reagents and Inhibition of Vacuolar ATPase (2011)
J Neurosci. 2011 Feb 2;31(5):1885-1894.
- ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import (2010)
EMBO J. 2010 Aug 18;29(16):2841-57. Epub 2010 Jul 6.
- Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin (2009)
J Neurochem. 2009 Aug;110(3):1082-94. Epub 2009 Jun 9.