Research graph
References from AUG-Dependent Translation of Antisense Repeat Transcripts Contributes to Dipeptide Repeat Protein Production in C9ORF72 Expansion Carriers. Local targets link to admitted publications; unresolved targets remain external evidence.
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
10.1016/j.neuron.2011.09.011 · 2011 · External reference
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
10.1016/j.neuron.2011.09.010 · 2011 · External reference
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
10.1016/j.neuron.2013.02.004 · 2013 · External reference
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
10.1007/s00401-013-1189-3 · 2013 · External reference
Repeat-associated non-ATG (RAN) translation: New starts in microsatellite expansion disorders
10.1016/j.gde.2014.03.002 · 2014 · External reference
C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?
10.1016/j.neurol.2024.03.008 · 2024 · External reference
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
10.1126/science.aaf7791 · 2016 · External reference
Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD
10.1038/s41467-019-13477-8 · 2019 · External reference
Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD
10.1038/s41593-019-0396-1 · 2019 · External reference
CRISPR-Cas9 screens identify the RNA helicase DDX3X as a repressor of C9ORF72 (GGGGCC)n repeat-associated non-AUG translation
10.1016/j.neuron.2019.09.003 · 2019 · External reference
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
10.1038/s41593-019-0455-7 · 2019 · External reference
CGG repeat-associated non-AUG translation utilizes a cap-dependent scanning mechanism of initiation to produce toxic proteins
10.1016/j.molcel.2016.02.034 · 2016 · External reference
Translation of expanded CGG repeats into FMRpolyG is pathogenic and may contribute to fragile X tremor ataxia syndrome
10.1016/j.neuron.2016.12.016 · 2017 · External reference
Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders
10.15252/embj.2018100574 · 2020 · External reference
RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response
10.1038/s41467-017-02200-0 · 2017 · External reference
Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress
10.1016/j.nbd.2018.05.009 · 2018 · External reference
CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts
10.1038/s41467-017-02643-5 · 2018 · External reference
Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells
10.1007/s00401-019-02083-z · 2019 · External reference
Ribosome profiling reveals novel regulation of C9ORF72 GGGGCC repeat-containing RNA translation
10.1261/rna.078963.121 · 2022 · External reference
Translation of the poly(GR) frame in C9ORF72-ALS/FTD is regulated by cis-elements involved in alternative splicing
10.1016/j.neurobiolaging.2021.04.030 · 2021 · External reference
How villains are made: The translation of dipeptide repeat proteins in C9ORF72-ALS/FTD
10.1016/j.gene.2023.147167 · 2023 · External reference
Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons
10.7554/elife.83189 · 2023 · External reference
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
10.1073/pnas.1315438110 · 2013 · External reference
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis
10.1126/scitranslmed.aai7866 · 2017 · External reference
Suppression of mutant C9orf72 expression by a potent mixed-backbone antisense oligonucleotide
10.1038/s41591-021-01557-6 · 2022 · External reference
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity
10.1126/science.aav2606 · 2019 · External reference
C9orf72 poly(PR) aggregation in nucleus induces ALS/FTD-related neurodegeneration in cynomolgus monkeys
10.1016/j.nbd.2023.106197 · 2023 · External reference
C9ORF72 poly-PR disrupts expression of ALS/FTD-implicated STMN2 through SRSF7
10.1186/s40478-025-01977-2 · 2025 · External reference
C9orf72-derived dipeptide repeat proteins poly-PR disrupt membrane excitability and synaptic function in cortical neurons
10.1016/j.nbd.2026.107320 · 2026 · External reference
C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation
10.1038/s41467-017-02495-z · 2018 · External reference
Poly(GR) in C9ORF72-related ALS/FTD compromises mitochondrial function and increases oxidative stress and DNA damage in iPSC-derived motor neurons
10.1016/j.neuron.2016.09.015 · 2016 · External reference
C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo
10.1038/s41593-019-0397-0 · 2019 · External reference
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
10.1007/s00401-014-1286-y · 2014 · External reference
Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision
10.1073/pnas.2307814121 · 2024 · External reference
Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes
10.1126/science.adv2600 · 2026 · External reference
C9orf72 Poly(PR) Dipeptide Repeats Disturb Biomolecular Phase Separation and Disrupt Nucleolar Function
10.1016/j.molcel.2019.03.019 · 2019 · External reference
C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress
10.1016/j.isci.2023.107505 · 2023 · External reference
The proline-arginine repeat protein linked to C9-ALS/FTD causes neuronal toxicity by inhibiting the DEAD-box RNA helicase-mediated ribosome biogenesis
10.1038/s41419-018-1028-5 · 2018 · External reference
C9orf72 arginine-rich dipeptide repeats inhibit UPF1-mediated RNA decay via translational repression
10.1038/s41467-020-17129-0 · 2020 · External reference
C9ORF72 poly-PR induces TDP-43 nuclear condensation via NEAT1 and is modulated by HSP70 activity
10.1016/j.celrep.2024.115173 · 2025 · External reference
Molecular basis of C9orf72 poly-PR interference with the β-karyopherin family of nuclear transport receptors
10.1038/s41598-022-25732-y · 2022 · External reference
Sigma-1R-Pom121 axis preserves nuclear transport and integrity in poly-PR-induced C9orf72 ALS
10.1016/j.nbd.2025.106992 · 2025 · External reference
VCP modulation ameliorates pathological features in C9orf72 models
10.1038/s41419-026-08856-1 · 2026 · External reference
Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia
10.1097/wco.0000000000000984 · 2021 · External reference
10.3390/ijms26136268
10.3390/ijms26136268 · External reference
Developing therapeutic antibodies for neurodegenerative disease
10.1007/s13311-013-0187-4 · 2013 · External reference
Drug transport across the blood-brain barrier
10.1038/jcbfm.2012.126 · 2012 · External reference
Adeno-associated virus vector as a platform for gene therapy delivery
10.1038/s41573-019-0012-9 · 2019 · External reference
Emerging Issues in AAV-Mediated In Vivo Gene Therapy
10.1016/j.omtm.2017.11.007 · 2018 · External reference
10.3389/fimmu.2020.00670
10.3389/fimmu.2020.00670 · External reference
Therapeutic AAV Gene Transfer to the Nervous System: A Clinical Reality
10.1016/j.neuron.2019.02.017 · 2019 · External reference
Long-Term Tofersen in SOD1 Amyotrophic Lateral Sclerosis
10.1001/jamaneurol.2025.4946 · 2026 · External reference
Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: A phase 1, randomised, double-blinded, placebo-controlled, multiple ascending dose study
10.1016/s1474-4422(24)00216-3 · 2024 · External reference
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: Lessons learned and the path forward
10.1093/brain/awae168 · 2024 · External reference
The carboxyl termini of RAN-translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD
10.1186/s40478-020-01002-8 · 2020 · External reference
Long-Term Tofersen in SOD1 Amyotrophic Lateral Sclerosis
10.1001/jamaneurol.2025.4946 · ExternalCitation · doi-reference
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
10.1007/s00401-013-1189-3 · ExternalCitation · doi-reference
C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD
10.1007/s00401-014-1286-y · ExternalCitation · doi-reference
Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells
10.1007/s00401-019-02083-z · ExternalCitation · doi-reference
Developing therapeutic antibodies for neurodegenerative disease
10.1007/s13311-013-0187-4 · ExternalCitation · doi-reference
C9ORF72 poly-PR induces TDP-43 nuclear condensation via NEAT1 and is modulated by HSP70 activity
10.1016/j.celrep.2024.115173 · ExternalCitation · doi-reference
Repeat-associated non-ATG (RAN) translation: New starts in microsatellite expansion disorders
10.1016/j.gde.2014.03.002 · ExternalCitation · doi-reference
How villains are made: The translation of dipeptide repeat proteins in C9ORF72-ALS/FTD
10.1016/j.gene.2023.147167 · ExternalCitation · doi-reference
C9orf72 poly(PR) mediated neurodegeneration is associated with nucleolar stress
10.1016/j.isci.2023.107505 · ExternalCitation · doi-reference
CGG repeat-associated non-AUG translation utilizes a cap-dependent scanning mechanism of initiation to produce toxic proteins
10.1016/j.molcel.2016.02.034 · ExternalCitation · doi-reference
C9orf72 Poly(PR) Dipeptide Repeats Disturb Biomolecular Phase Separation and Disrupt Nucleolar Function
10.1016/j.molcel.2019.03.019 · ExternalCitation · doi-reference
Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress
10.1016/j.nbd.2018.05.009 · ExternalCitation · doi-reference
C9orf72 poly(PR) aggregation in nucleus induces ALS/FTD-related neurodegeneration in cynomolgus monkeys
10.1016/j.nbd.2023.106197 · ExternalCitation · doi-reference
Sigma-1R-Pom121 axis preserves nuclear transport and integrity in poly-PR-induced C9orf72 ALS
10.1016/j.nbd.2025.106992 · ExternalCitation · doi-reference
C9orf72-derived dipeptide repeat proteins poly-PR disrupt membrane excitability and synaptic function in cortical neurons
10.1016/j.nbd.2026.107320 · ExternalCitation · doi-reference
Translation of the poly(GR) frame in C9ORF72-ALS/FTD is regulated by cis-elements involved in alternative splicing
10.1016/j.neurobiolaging.2021.04.030 · ExternalCitation · doi-reference
C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?
10.1016/j.neurol.2024.03.008 · ExternalCitation · doi-reference
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
10.1016/j.neuron.2011.09.010 · ExternalCitation · doi-reference
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
10.1016/j.neuron.2011.09.011 · ExternalCitation · doi-reference
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
10.1016/j.neuron.2013.02.004 · ExternalCitation · doi-reference
Poly(GR) in C9ORF72-related ALS/FTD compromises mitochondrial function and increases oxidative stress and DNA damage in iPSC-derived motor neurons
10.1016/j.neuron.2016.09.015 · ExternalCitation · doi-reference
Translation of expanded CGG repeats into FMRpolyG is pathogenic and may contribute to fragile X tremor ataxia syndrome
10.1016/j.neuron.2016.12.016 · ExternalCitation · doi-reference
Therapeutic AAV Gene Transfer to the Nervous System: A Clinical Reality
10.1016/j.neuron.2019.02.017 · ExternalCitation · doi-reference
CRISPR-Cas9 screens identify the RNA helicase DDX3X as a repressor of C9ORF72 (GGGGCC)n repeat-associated non-AUG translation
10.1016/j.neuron.2019.09.003 · ExternalCitation · doi-reference
Emerging Issues in AAV-Mediated In Vivo Gene Therapy
10.1016/j.omtm.2017.11.007 · ExternalCitation · doi-reference
Safety, tolerability, and pharmacokinetics of antisense oligonucleotide BIIB078 in adults with C9orf72-associated amyotrophic lateral sclerosis: A phase 1, randomised, double-blinded, placebo-controlled, multiple ascending dose study
10.1016/s1474-4422(24)00216-3 · ExternalCitation · doi-reference
Drug transport across the blood-brain barrier
10.1038/jcbfm.2012.126 · ExternalCitation · doi-reference
The proline-arginine repeat protein linked to C9-ALS/FTD causes neuronal toxicity by inhibiting the DEAD-box RNA helicase-mediated ribosome biogenesis
10.1038/s41419-018-1028-5 · ExternalCitation · doi-reference
VCP modulation ameliorates pathological features in C9orf72 models
10.1038/s41419-026-08856-1 · ExternalCitation · doi-reference
RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response
10.1038/s41467-017-02200-0 · ExternalCitation · doi-reference
C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation
10.1038/s41467-017-02495-z · ExternalCitation · doi-reference
CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts
10.1038/s41467-017-02643-5 · ExternalCitation · doi-reference
Transcription elongation factor AFF2/FMR2 regulates expression of expanded GGGGCC repeat-containing C9ORF72 allele in ALS/FTD
10.1038/s41467-019-13477-8 · ExternalCitation · doi-reference
C9orf72 arginine-rich dipeptide repeats inhibit UPF1-mediated RNA decay via translational repression
10.1038/s41467-020-17129-0 · ExternalCitation · doi-reference
Adeno-associated virus vector as a platform for gene therapy delivery
10.1038/s41573-019-0012-9 · ExternalCitation · doi-reference
Suppression of mutant C9orf72 expression by a potent mixed-backbone antisense oligonucleotide
10.1038/s41591-021-01557-6 · ExternalCitation · doi-reference
Toxic expanded GGGGCC repeat transcription is mediated by the PAF1 complex in C9orf72-associated FTD
10.1038/s41593-019-0396-1 · ExternalCitation · doi-reference
C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo
10.1038/s41593-019-0397-0 · ExternalCitation · doi-reference
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats
10.1038/s41593-019-0455-7 · ExternalCitation · doi-reference
Molecular basis of C9orf72 poly-PR interference with the β-karyopherin family of nuclear transport receptors
10.1038/s41598-022-25732-y · ExternalCitation · doi-reference
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
10.1073/pnas.1315438110 · ExternalCitation · doi-reference
Reversal of C9orf72 mutation-induced transcriptional dysregulation and pathology in cultured human neurons by allele-specific excision
10.1073/pnas.2307814121 · ExternalCitation · doi-reference
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: Lessons learned and the path forward
10.1093/brain/awae168 · ExternalCitation · doi-reference
Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia
10.1097/wco.0000000000000984 · ExternalCitation · doi-reference
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts
10.1126/science.aaf7791 · ExternalCitation · doi-reference
Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity
10.1126/science.aav2606 · ExternalCitation · doi-reference
Blocking RAN translation without altering repeat RNAs rescues C9ORF72-related ALS and FTD phenotypes
10.1126/science.adv2600 · ExternalCitation · doi-reference
Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis
10.1126/scitranslmed.aai7866 · ExternalCitation · doi-reference
The carboxyl termini of RAN-translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD
10.1186/s40478-020-01002-8 · ExternalCitation · doi-reference
C9ORF72 poly-PR disrupts expression of ALS/FTD-implicated STMN2 through SRSF7
10.1186/s40478-025-01977-2 · ExternalCitation · doi-reference
Ribosome profiling reveals novel regulation of C9ORF72 GGGGCC repeat-containing RNA translation
10.1261/rna.078963.121 · ExternalCitation · doi-reference
Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders
10.15252/embj.2018100574 · ExternalCitation · doi-reference
10.3389/fimmu.2020.00670
10.3389/fimmu.2020.00670 · ExternalCitation · doi-reference
10.3390/ijms26136268
10.3390/ijms26136268 · ExternalCitation · doi-reference
Translation of dipeptide repeat proteins in C9ORF72 ALS/FTD through unique and redundant AUG initiation codons
10.7554/elife.83189 · ExternalCitation · doi-reference
