Keyword

hexanucleotide repeat expansion

Description: An increase in the number of repeated six-nucleotide DNA sequences, associated particularly with genetic forms of amyotrophic lateral sclerosis.

Primary topic: Amyotrophic Lateral Sclerosis Research (88%)

OpenAlex ID: keywords/hexanucleotide-repeat-expansion

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

2011 · Alan E. Renton, Elisa Majounie, et al. · Neuron · 4,408

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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

2012 · Elisa Majounie, Alan E Renton, et al. · The Lancet Neurology · 1,212

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

2015 · Ke Zhang, Christopher J. Donnelly, et al. · Nature · 977

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

2014 · Aaron R. Haeusler, Christopher J. Donnelly, et al. · Nature · 977

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

2013 · Tania F. Gendron, Kevin F. Bieniek, et al. · Acta Neuropathologica · 581

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Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

2013 · Clotilde Lagier-Tourenne, Michael Baughn, et al. · Proceedings of the National Academy of Sciences · 561

C9orf72 is required for proper macrophage and microglial function in mice

2016 · J. G. O’Rourke, L. Bogdanik, et al. · Science · 550

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Nuclear protein localization

1991 · Jose Garcia-Bustos, Joseph Heitman, et al. · Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes · 550

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

2016 · Jie Jiang, Qiang Zhu, et al. · Neuron · 536

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Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

2012 · J. S. Snowden, S. Rollinson, et al. · Brain · 525

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Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

2017 · Steven Boeynaems, Elke Bogaert, et al. · Molecular Cell · 501

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C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

2014 · Manal A. Farg, Vinod Sundaramoorthy, et al. · Human Molecular Genetics · 478

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p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

2011 · Safa Al-Sarraj, Andrew King, et al. · Acta Neuropathologica · 473

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

2012 · C. J. Mahoney, J. Beck, et al. · Brain · 438

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Advances in understanding the molecular basis of frontotemporal dementia

2012 · Rosa Rademakers, Manuela Neumann, et al. · Nature Reviews Neurology · 412

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Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

2013 · Ian R. Mackenzie, Thomas Arzberger, et al. · Acta Neuropathologica · 345

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

2013 · Jon Beck, Mark Poulter, et al. · The American Journal of Human Genetics · 345

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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 · Kohji Mori, Sven Lammich, et al. · Acta Neuropathologica · 342

Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

2014 · Yong-Jie Zhang, Karen Jansen-West, et al. · Acta Neuropathologica · 337

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C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

2012 · Pietro Fratta, Sarah Mizielinska, et al. · Scientific Reports · 333

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Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

2013 · Veronique V. Belzil, Peter O. Bauer, et al. · Acta Neuropathologica · 315

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C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

2020 · Aaron Burberry, Michael F. Wells, et al. · Nature · 314

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

2014 · Stephanie May, Daniel Hornburg, et al. · Acta Neuropathologica · 312

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C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

2015 · Jacqueline G. O’Rourke, Laurent Bogdanik, et al. · Neuron · 297

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Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

2011 · Melissa E. Murray, Mariely DeJesus-Hernandez, et al. · Acta Neuropathologica · 295

Works count: 853

Citation count: 36,660