The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease (Q38826893)

6 September 2017

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title

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease (English)

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6 September 2017

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Aaron R Haeusler

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6 September 2017

Christopher J Donnelly

series ordinal

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6 September 2017

Jeffrey D Rothstein

series ordinal

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6 September 2017

language of work or name

English

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publication date

6 May 2016

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Nature Reviews Neuroscience

6 September 2017

published in

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6 September 2017

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6 September 2017

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6 September 2017

page(s)

383-395

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

6 September 2017

cites work

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The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

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Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

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

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RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

31 March 2020

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Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

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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

31 March 2020

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

31 March 2020

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Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

31 March 2020

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C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

31 March 2020

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Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

31 March 2020

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Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

31 March 2020

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Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

31 March 2020

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

31 March 2020

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The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner

31 March 2020

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Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo

31 March 2020

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Transcriptional properties of RNA polymerase II within triplet repeat-containing DNA from the human myotonic dystrophy and fragile X loci

31 March 2020

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G4-forming sequences in the non-transcribed DNA strand pose blocks to T7 RNA polymerase and mammalian RNA polymerase II.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Spt4 is selectively required for transcription of extended trinucleotide repeats

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Partners in crime: bidirectional transcription in unstable microsatellite disease

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Nascent RNA sequencing reveals widespread pausing and divergent initiation at human promoters

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Divergent transcription from active promoters

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Gene regulation by antisense transcription

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense noncoding RNA.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

The emerging roles of microRNAs in the pathogenesis of frontotemporal dementia-amyotrophic lateral sclerosis (FTD-ALS) spectrum disorders

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Non-ATG-initiated translation directed by microsatellite expansions

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

CGG repeat-associated translation mediates neurodegeneration in fragile X tremor ataxia syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Human iPSC-derived motoneurons harbouring TARDBP or C9ORF72 ALS mutations are dysfunctional despite maintaining viability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Intrinsic membrane hyperexcitability of amyotrophic lateral sclerosis patient-derived motor neurons

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Cortical Hyperexcitability in Amyotrophic Lateral Sclerosis: C9orf72 Repeats

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

CAG expansion induces nucleolar stress in polyglutamine diseases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

31 March 2020

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A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy

31 March 2020

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Inhibition of Non-ATG Translational Events in Cells via Covalent Small Molecules Targeting RNA

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

TMPyP4 porphyrin distorts RNA G-quadruplex structures of the disease-associated r(GGGGCC)n repeat of the C9orf72 gene and blocks interaction of RNA-binding proteins

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Nuclear export inhibitors avert progression in preclinical models of inflammatory demyelination

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

SOD1 in cerebral spinal fluid as a pharmacodynamic marker for antisense oligonucleotide therapy

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Jump from pre-mutation to pathologic expansion in C9orf72.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Mechanisms of trinucleotide repeat instability during human development

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Semi-automated quantification of C9orf72 expansion size reveals inverse correlation between hexanucleotide repeat number and disease duration in frontotemporal degeneration

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Expandable DNA repeats and human disease.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Trinucleotide Repeat Disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Repeat expansion disease: progress and puzzles in disease pathogenesis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Repeat instability: mechanisms of dynamic mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Causes of genome instability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Repeat instability as the basis for human diseases and as a potential target for therapy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Mutagenic Capacity of Endogenous G4 DNA Underlies Genome Instability in FANCJ-Defective C. elegans

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

The yeast Pif1 helicase prevents genomic instability caused by G-quadruplex-forming CEB1 sequences in vivo

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Genetic instability triggered by G-quadruplex interacting Phen-DC compounds in Saccharomyces cerevisiae

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

DNA secondary structures and epigenetic determinants of cancer genome evolution

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Patterns of somatically acquired amplifications and deletions in apparently normal tissues of ovarian cancer patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

The repair of G-quadruplex-induced DNA damage

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

The connection between transcription and genomic instability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Cotranscriptional processes and their influence on genome stability.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

R loops: from transcription byproducts to threats to genome stability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

BRCA2 prevents R-loop accumulation and associates with TREX-2 mRNA export factor PCID2.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

A double-edged sword: R loops as threats to genome integrity and powerful regulators of gene expression

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

R loops stimulate genetic instability of CTG.CAG repeats

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Processing of double-R-loops in (CAG)·(CTG) and C9orf72 (GGGGCC)·(GGCCCC) repeats causes instability

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Saccharomyces cerevisiae Sen1 Helicase Domain Exhibits 5'- to 3'-Helicase Activity with a Preference for Translocation on DNA Rather than RNA

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

C9orf72 promoter hypermethylation is neuroprotective: Neuroimaging and neuropathologic evidence

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Stable DNA methylation boundaries and expanded trinucleotide repeats: role of DNA insertions

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

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

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Emerging role of RNA•DNA hybrids in C9orf72-linked neurodegeneration.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRN.2016.38

Stabilization of G-quadruplex DNA by C-5-methyl-cytosine in bcl-2 promoter: implications for epigenetic regulation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Solution structure of a DNA quadruplex containing ALS and FTD related GGGGCC repeat stabilized by 8-bromodeoxyguanosine substitution

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Initiation of translation in bacteria by a structured eukaryotic IRES RNA

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Alternative reading frame selection mediated by a tRNA-like domain of an internal ribosome entry site

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

CAG tract of MJD-1 may be prone to frameshifts causing polyalanine accumulation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Polyalanine and polyserine frameshift products in Huntington's disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Depletion of cognate charged transfer RNA causes translational frameshifting within the expanded CAG stretch in huntingtin

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Stimulation of ribosomal frameshifting by RNA G-quadruplex structures

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Stabilization of the G-quadruplex at the VEGF IRES represses cap-independent translation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRN.2016.38

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

31 March 2020

1 reference

12 December 2020

Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus

1 reference

12 December 2020

RNA-mediated neurodegeneration in repeat expansion disorders

1 reference

12 December 2020

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRN.2016.38

1 reference

Dimensions Publication ID

6 September 2017

1026292490

0 references

1 reference