Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers
暂无分享,去创建一个
M. Oulad-Abdelghani | I. Mackenzie | J. Prudlo | R. Pasterkamp | M. Neumann | D. Edbauer | R. Feederle | C. Sellier | N. Charlet-Berguerand | Chieh-Yu Cheng | C. Martinat | P. Frick | Julie Tahraoui-Bories | R. J. Pasterkamp | Petra Frick | Manuela Neumann
[1] D. Pizzo,et al. Sense-encoded poly-GR dipeptide repeat proteins correlate to neurodegeneration and uniquely co-localize with TDP-43 in dendrites of repeat-expanded C9orf72 amyotrophic lateral sclerosis , 2018, Acta Neuropathologica.
[2] Michael J. Cowan,et al. Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons , 2018, Nature Medicine.
[3] B. Dubois,et al. Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years , 2018, JAMA neurology.
[4] Kevin F. Bieniek,et al. In-depth clinico-pathological examination of RNA foci in a large cohort of C9ORF72 expansion carriers , 2017, Acta Neuropathologica.
[5] S. Müller,et al. Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator , 2017, eLife.
[6] K. Kawakami,et al. Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration , 2017, Molecular Neurodegeneration.
[7] A. Pandey,et al. Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling , 2016, PLoS genetics.
[8] Joseph Amick,et al. C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling , 2016, Molecular biology of the cell.
[9] Jian-Fu Chen,et al. A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy , 2016, Science Advances.
[10] A. Whitworth,et al. The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy , 2016, The EMBO journal.
[11] M. Oulad-Abdelghani,et al. Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death , 2016, The EMBO journal.
[12] L. H. van den Berg,et al. Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects , 2016, Acta Neuropathologica.
[13] M. Smolka,et al. The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway , 2016, Acta neuropathologica communications.
[14] C. Siao,et al. C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice , 2016, Scientific Reports.
[15] R. Jahn,et al. Functions of Rab Proteins at Presynaptic Sites , 2016, Cells.
[16] D. Mann,et al. Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9orf72 is linked to TDP‐43 pathology and not associated with aggregated forms of dipeptide repeat proteins , 2015, Neuropathology and applied neurobiology.
[17] L. Petrucelli,et al. C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD , 2015, Neuron.
[18] L. Petrucelli,et al. Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72 , 2015, Acta Neuropathologica.
[19] E. Rogaeva,et al. Isoform‐specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis , 2015, Annals of neurology.
[20] J. Vickers,et al. C9ORF72 expression and cellular localization over mouse development , 2015, Acta Neuropathologica Communications.
[21] L. Petrucelli,et al. Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers , 2015, Acta Neuropathologica.
[22] Raymond D. Schellevis,et al. C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits , 2015, Annals of neurology.
[23] Kevin F. Bieniek,et al. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits , 2015, Science.
[24] Dmitri D. Pervouchine,et al. The human transcriptome across tissues and individuals , 2015, Science.
[25] M. Peschanski,et al. Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes , 2014, Nature Biotechnology.
[26] O. Hendrich,et al. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins , 2014, Science.
[27] M. Mann,et al. C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration , 2014, Acta Neuropathologica.
[28] H. Morris,et al. Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion , 2014, Neurobiology of Aging.
[29] Stuart A. Wilson,et al. Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions , 2014, Brain : a journal of neurology.
[30] Patrick G. Shaw,et al. C9orf72 Nucleotide Repeat Structures Initiate Molecular Cascades of Disease , 2014, Nature.
[31] G. Rouleau,et al. Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans , 2013, PloS one.
[32] J. Ule,et al. Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic , 2013, Cell reports.
[33] J. Rothstein,et al. RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia , 2013, Proceedings of the National Academy of Sciences.
[34] K. Eggan,et al. The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD , 2013, Nature Neuroscience.
[35] A. Isaacs,et al. C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci , 2013, Acta Neuropathologica.
[36] E. Kremmer,et al. Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins , 2013, Acta Neuropathologica.
[37] Kevin F. Bieniek,et al. Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS , 2013, Acta Neuropathologica.
[38] S. Lorenzl,et al. Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations , 2013, Acta Neuropathologica.
[39] C. Farquharson,et al. Total Protein Analysis as a Reliable Loading Control for Quantitative Fluorescent Western Blotting , 2013, PloS one.
[40] A. Brice,et al. Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis , 2013, Annals of neurology.
[41] E. Kremmer,et al. The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS , 2013, Science.
[42] Kevin F. Bieniek,et al. Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS , 2013, Neuron.
[43] C. Broeckhoven,et al. 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 Neuropathologica.
[44] Timothy P. Levine,et al. The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs , 2013, Bioinform..
[45] L. Aravind,et al. Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease , 2012, Front. Gene..
[46] J. Satoh,et al. Dystrophic neurites express C9orf72 in Alzheimer's disease brains , 2012, Alzheimer's Research & Therapy.
[47] S. Pereson,et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study , 2012, The Lancet Neurology.
[48] E. M. De La Cruz,et al. Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate , 2011, Proceedings of the National Academy of Sciences.
[49] Bruce L. Miller,et al. Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS , 2011, Neuron.
[50] David Heckerman,et al. A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD , 2011, Neuron.
[51] D. Rigden,et al. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors , 2010, The Journal of cell biology.
[52] Bruce L. Miller,et al. Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis , 2006, Science.
[53] T. Südhof,et al. Rab3 Superprimes Synaptic Vesicles for Release: Implications for Short-Term Synaptic Plasticity , 2006, The Journal of Neuroscience.
[54] S. Pfeffer,et al. Targeting Rab GTPases to distinct membrane compartments , 2004, Nature Reviews Molecular Cell Biology.
[55] T. Südhof,et al. A Complete Genetic Analysis of Neuronal Rab3 Function , 2004, The Journal of Neuroscience.
[56] Christian Haass,et al. Subcellular Localization of Wild-Type and Parkinson's Disease-Associated Mutant α-Synuclein in Human and Transgenic Mouse Brain , 2000, The Journal of Neuroscience.
[57] David F. Clayton,et al. Characterization of a novel protein regulated during the critical period for song learning in the zebra finch , 1995, Neuron.
[58] P. Greengard,et al. Synapsin I (protein I), a nerve terminal-specific phosphoprotein. III. Its association with synaptic vesicles studied in a highly purified synaptic vesicle preparation , 1983, The Journal of cell biology.
[59] P Siekevitz,et al. Isolation and characterization of postsynaptic densities from various brain regions: enrichment of different types of postsynaptic densities , 1980, The Journal of cell biology.
[60] M. Oulad-Abdelghani,et al. Loss of C 9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death , 2016 .
[61] E. Friauf,et al. A subcellular prefractionation protocol for minute amounts of mammalian cell cultures and tissue , 2005, Proteomics.