Molecular Mechanisms of Neurodegeneration Related to Hexanucleotide Repeat Expansion (Q61816243)

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19 July 2022

Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion (English)

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frontotemporal dementia

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amyotrophic lateral sclerosis

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guanine nucleotide exchange C9orf72

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25 July 2020

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21 April 2021

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Tibor Hortobágyi

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Goran Šimić

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Patrick R Hof

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Mirjana Babić Leko

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Vera Župunski

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Dinko Smilović

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English

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publication date

15 January 2019

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Behavioural Neurology

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14 September 2019

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2019

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2909168

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Creative Commons Attribution 4.0 International

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copyright license

5 references

14 September 2019

28 November 2019

25 July 2020

21 April 2021

Inheritance of frontotemporal dementia

19 July 2022

cites work

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Kinesin transports RNA: isolation and characterization of an RNA-transporting granule

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A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

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Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

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Multiple roles for Puralpha in cellular and viral regulation

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Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

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Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles

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Making sense of G‐quadruplex and i‐motif functions in oncogene promoters

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Nucleation of nuclear bodies by RNA.

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A harmonized classification system for FTLD-TDP pathology

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The role of G-quadruplex/i-motif secondary structures as cis-acting regulatory elements

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12 December 2020

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

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12 December 2020

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

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12 December 2020

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.

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12 December 2020

Pur-alpha regulates RhoA developmental expression and downstream signaling

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12 December 2020

Cell-free formation of RNA granules: low complexity sequence domains form dynamic fibers within hydrogels

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12 December 2020

Cell-free formation of RNA granules: bound RNAs identify features and components of cellular assemblies.

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12 December 2020

Microglial activation correlates with disease progression and upper motor neuron clinical symptoms in amyotrophic lateral sclerosis

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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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures

1 reference

12 December 2020

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

1 reference

12 December 2020

Altered ribostasis: RNA-protein granules in degenerative disorders

1 reference

12 December 2020

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Phase transitions and size scaling of membrane-less organelles

1 reference

12 December 2020

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients

1 reference

12 December 2020

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

RNA binding proteins and the genesis of neurodegenerative diseases

1 reference

12 December 2020

Characterization of DNA G-quadruplex species forming from C9ORF72 G4C2-expanded repeats associated with amyotrophic lateral sclerosis and frontotemporal lobar degeneration

1 reference

12 December 2020

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

1 reference

12 December 2020

Frontotemporal dementia: a bridge between dementia and neuromuscular disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

1 reference

12 December 2020

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.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

1 reference

12 December 2020

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

RNA transcription modulates phase transition-driven nuclear body assembly

1 reference

12 December 2020

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

1 reference

12 December 2020

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

1 reference

12 December 2020

Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Engineering Duplex RNAs for Challenging Targets: Recognition of GGGGCC/CCCCGG Repeats at the ALS/FTD C9orf72 Locus

1 reference

12 December 2020

Anti-sense DNA d(GGCCCC)n expansions in C9ORF72 form i-motifs and protonated hairpins.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function

1 reference

12 December 2020

The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission Properties

1 reference

12 December 2020

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD.

1 reference

12 December 2020

Pathogenic C9ORF72 Antisense Repeat RNA Forms a Double Helix with Tandem C:C Mismatches

1 reference

12 December 2020

Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation

1 reference

12 December 2020

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

1 reference

12 December 2020

C9orf72 is required for proper macrophage and microglial function in mice

1 reference

12 December 2020

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

1 reference

12 December 2020

Insights into the pathogenic mechanisms of Chromosome 9 open reading frame 72 (C9orf72) repeat expansions

1 reference

12 December 2020

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress

1 reference

12 December 2020

C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal

1 reference

12 December 2020

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death

1 reference

12 December 2020

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

1 reference

12 December 2020

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD.

1 reference

12 December 2020

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

1 reference

12 December 2020

Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

1 reference

12 December 2020

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

1 reference

12 December 2020

Reduced hnRNPA3 increases C9orf72 repeat RNA levels and dipeptide-repeat protein deposition

1 reference

12 December 2020

C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling

1 reference

12 December 2020

Identification of a novel loss-of-function C9orf72 splice site mutation in a patient with amyotrophic lateral sclerosis

1 reference

12 December 2020

Pathogenic determinants and mechanisms of ALS/FTD linked to hexanucleotide repeat expansions in the C9orf72 gene

1 reference

12 December 2020

Poly(GR) in C9ORF72-Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

1 reference

12 December 2020

Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72-ALS/FTD.

1 reference

12 December 2020

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

1 reference

12 December 2020

Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers

1 reference

12 December 2020

Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity.

1 reference

12 December 2020

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

1 reference

12 December 2020

Recognition of c9orf72 Mutant RNA by Single-Stranded Silencing RNAs

1 reference

12 December 2020

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD.

1 reference

12 December 2020

Amyotrophic lateral sclerosis - frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria.

1 reference

12 December 2020

Toxic PRn poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export

1 reference

12 December 2020

Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration

1 reference

12 December 2020

c9orf72 Disease-Related Foci Are Each Composed of One Mutant Expanded Repeat RNA.

1 reference

12 December 2020

The Proline/Arginine Dipeptide from Hexanucleotide Repeat Expanded C9ORF72 Inhibits the Proteasome

1 reference

12 December 2020

C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease

1 reference

12 December 2020

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

1 reference

12 December 2020

Systemic deregulation of autophagy upon loss of ALS- and FTD-linked C9orf72.

1 reference

12 December 2020

Cell adaptation upon stress: the emerging role of membrane-less compartments

1 reference

12 December 2020

Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins

1 reference

12 December 2020

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis

1 reference

12 December 2020

Membrane-bound organelles versus membrane-less compartments and their control of anabolic pathways in Drosophila

1 reference

12 December 2020

Poly-GP in cerebrospinal fluid links C9orf72-associated dipeptide repeat expression to the asymptomatic phase of ALS/FTD.

1 reference

12 December 2020

Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss

1 reference

12 December 2020

Augmenting brain metabolism to increase macro- and chaperone-mediated autophagy for decreasing neuronal proteotoxicity and aging

1 reference

12 December 2020

Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits

1 reference

12 December 2020

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

1 reference

12 December 2020

Microglia and C9orf72 in neuroinflammation and ALS and frontotemporal dementia

1 reference

12 December 2020

RNA Misprocessing in C9orf72-Linked Neurodegeneration

1 reference

12 December 2020

Amyotrophic lateral sclerosis and non-tau frontotemporal lobar degeneration

1 reference

12 December 2020

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

1 reference

12 December 2020

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.

1 reference

12 December 2020

RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response

1 reference

12 December 2020

C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation.

1 reference

12 December 2020

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.

1 reference

12 December 2020

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts.

1 reference

12 December 2020

Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS.

1 reference

12 December 2020

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.

1 reference

12 December 2020

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons.

1 reference

12 December 2020

CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.

1 reference

12 December 2020

C9orf72 is essential for neurodevelopment and motility mediated by Cyclin G1.

1 reference

12 December 2020

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model.

1 reference

12 December 2020

Stress-induced acidification may contribute to formation of unusual structures in C9orf72-repeats

1 reference

12 December 2020

A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis

1 reference

12 December 2020

C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43

1 reference

12 December 2020

Poly(GP), neurofilament and grey matter deficits in C9orf72 expansion carriers.

1 reference

12 December 2020

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

1 reference

12 December 2020

Proteomics and C9orf72 neuropathology identify ribosomes as poly-GR/PR interactors driving toxicity

1 reference

12 December 2020

Identifiers

DOI

10.1155/2019/2909168

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30774737 AND SRC:MED&resulttype=core&format=json

23 April 2020

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23 April 2020

PubMed publication ID

30774737

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