Content
Frontotemporal Lobar Degeneration (FTLD)
[2017] [2016] [2015] [2014] [2013] [2012] [2010] [2009] [2008]
- Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration (2017)
Mol Neurodegener. 2017 Jan 14;12(1):6.
- Early changes of CSF sTREM2 in Dominantly Inherited Alzheimer’s Disease follow markers of Amyloid Deposition and Neuronal Injury (2016)
Sci Transl Med. 2016 Dec 14;8(369):369ra178. - Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition (2016)
EMBO Rep. 2016 Jul 26. pii: e201541724. [Epub ahead of print] - Cerebrospinal fluid sTREM2 levels are associated with gray matter volume increases and reduced diffusivity in early Alzheimer's disease (2016)
Alzheimers Dement. 2016 Jul 13. pii: S1552-5260(16)30026-7. - TREM2 deficiency reduces the efficacy of immunotherapeutic amyloid clearance (2016)
EMBO Mol Med. 2016 Jul 8. pii: e201606370. - Impaired protein degradation in FTLD and related disorders (2016)
Ageing Res Rev. 2016 May 7. pii: S1568-1637(16)30065-4. - sTREM2 cerebrospinal fluid levels are a potential biomarker for microglia activity in early-stage Alzheimer's disease and associate with neuronal injury markers (2016)
EMBO Mol Med. 2016 May 2;8(5):466-76. - Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS (2016)
Acta Neuropathol. 2016 Apr;131(4):587-604. - Reduced secretion and altered proteolytic processing caused by missense mutations in progranulin (2016)
Neurobiol Aging. 2016 Mar;39:220.e17-26. - An amyloid-like cascade hypothesis for C9orf72 ALS/FTD (2016)
Curr Opin Neurobiol. 2016 Feb;36:99-106.
- Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains (2015)
Acta Neuropathol Commun. 2015 Nov 10;3:68. - Granulin knock out zebrafish lack frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis pathology (2015)
PLoS One. 2015 Mar 18;10(3):e0118956 - Nuclear import factor transportin and arginine methyltransferase 1 modify FUS neurotoxicity in Drosophila (2015)
Neurobiol Dis. 2015 Feb;74:76-88.
- Progranulin transcripts with short and long 5' untranslated regions (UTRs) are differentially expressed via posttranscriptional and translational repression (2014)
J Biol Chem. 2014 Sep 12;289(37):25879-89 - TREM2 mutations implicated in neurodegeneration impair cell surface transport and phagocytosis (2014)
Sci Transl Med. 2014 Jul 2;6(243):243ra86. - Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis (2014)
Acta Neuropathol. 2014;127(6):845-60. - 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 (2013)
Acta Neuropathol. 2013 Dec;126(6):881-93. doi: 10.1007/s00401-013-1189-3. Epub 2013 Oct 17. - Efficient CRISPR/Cas9 genome editing with low off-target effects in zebrafish (2013)
Development. 2013 Dec;140(24):4982-7. doi: 10.1242/dev.099085. Epub 2013 Nov 20. - Genomic editing opens new avenues for zebrafish as a model for neurodegeneration (2013)
J Neurochem. 2013 Nov;127(4):461-70. doi: 10.1111/jnc.12460. Epub 2013 Oct 21. - 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. - Highly efficient targeted mutagenesis in mice using TALENs (2013)
Genetics. 2013 Nov;195(3):703-13. doi: 10.1534/genetics.113.156570. Epub 2013 Aug 26. - 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]. - Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth (2013)
Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):4986-91. doi: 10.1073/pnas.1218311110. Epub 2013 Mar 1. - Mechanisms of granulin deficiency: lessons from cellular and animal models (2013)
Mol Neurobiol. 2013 Feb;47(1):337-60. doi: 10.1007/s12035-012-8380-8.
- 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.