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C9orf72-mediated ALS and FTD: multiple pathways to disease

Nature reviews. Neurology, 2018-09, Vol.14 (9), p.544

2018

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G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome

FEBS letters, 2015-06, Vol.589 (14), p.1653-1668

2015

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C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

Lancet neurology, 2015-03, Vol.14 (3), p.291-301

2015

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

American journal of human genetics, 2013-03, Vol.92 (3), p.345-353

2013

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Conformation Determines the Seeding Potencies of Native and Recombinant Tau Aggregates

The Journal of biological chemistry, 2015-01, Vol.290 (2), p.1049-1065

2015

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The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes

Biochemical Society transactions, 2010-12, Vol.38 (6), p.1469

2010

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FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

Nucleic acids research, 2020-07, Vol.48 (12), p.6889

2020

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SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

Nature communications, 2017-07, Vol.8 (1), p.16063-18, Article 16063

2017

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Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2797-2805

2017

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RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Nature neuroscience, 2019-09, Vol.22 (9), p.1383

2019

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Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity

Acta neuropathologica communications, 2020-11, Vol.8 (1), p.184-13, Article 184

2020

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Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

Acta neuropathologica, 2013-09, Vol.126 (3), p.401-409

2013

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C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9

Nature communications, 2023-09, Vol.14 (1), p.5898-5898, Article 5898

2023

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A monocarboxylate transporter rescues frontotemporal dementia and Alzheimer’s disease models

PLoS genetics, 2023-09, Vol.19 (9), p.e1010893-e1010893

2023

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Opinion: more mouse models and more translation needed for ALS

Molecular neurodegeneration, 2023-05, Vol.18 (1), p.30-30, Article 30

2023

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Ageing as a risk factor for ALS/FTD

Human molecular genetics, 2017-10, Vol.26 (R2), p.R105-R113

2017

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Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

Brain (London, England : 1878), 2012-03, Vol.135 (Pt 3), p.819-832

2012

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Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila

eLife, 2021-03, Vol.10

2021

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Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies

EMBO molecular medicine, 2017-07, Vol.9 (7), p.853-855

2017

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Repeat length of C9orf72-associated glycine-alanine polypeptides affects their toxicity

Acta neuropathologica communications, 2023-08, Vol.11 (1), p.140-140, Article 140

2023

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Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain

Acta neuropathologica communications, 2019-12, Vol.7 (1), p.209-209, Article 209

2019

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A Reassessment of the Neuropathology of Frontotemporal Dementia Linked to Chromosome 3

Journal of neuropathology and experimental neurology, 2007-10, Vol.66 (10), p.884-891

2007

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Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

Neurobiology of aging, 2015-01, Vol.36 (1), p.546.e1-546.e7

2015

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C9orf72-mediated ALS and FTD: multiple pathways to disease

G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

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

TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates

Conformation Determines the Seeding Potencies of Native and Recombinant Tau Aggregates

The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes

G‐quadruplex‐binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo

FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits

Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9

A monocarboxylate transporter rescues frontotemporal dementia and Alzheimer’s disease models

Opinion: more mouse models and more translation needed for ALS

Ageing as a risk factor for ALS/FTD

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila

Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies

Repeat length of C9orf72-associated glycine-alanine polypeptides affects their toxicity

Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain

A Reassessment of the Neuropathology of Frontotemporal Dementia Linked to Chromosome 3

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

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