p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR)

G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

(2020) Alyssa N. Coyne et al.   NEURON

ALS Genetics: Gains, Losses, and Implications for Future Therapies

(2020) Garam Kim et al.   NEURON

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

(2019) Yong-Jie Zhang et al.   SCIENCE

C9orf72 Poly(PR) Dipeptide Repeats Disturb Biomolecular Phase Separation and Disrupt Nucleolar Function

(2019) Michael R. White et al.   MOLECULAR CELL

L3MBTL1 regulates ALS/FTD-associated proteotoxicity and quality control

(2019) Jiayin Lu et al.   NATURE NEUROSCIENCE

Partial inhibition of the overactivated Ku80-dependent DNA repair pathway rescues neurodegeneration in C9ORF72-ALS/FTD

(2019) Rodrigo Lopez-Gonzalez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2019) Shizuka B. Yamada et al.   NATURE NEUROSCIENCE

VIPER: Visualization Pipeline for RNA-seq, a Snakemake workflow for efficient and complete RNA-seq analysis

(2018) MacIntosh Cornwell et al.   BMC BIOINFORMATICS

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

(2018) Nicholas J. Kramer et al.   NATURE GENETICS

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

(2018) Yingxiao Shi et al.   NATURE MEDICINE

TDP-43 induces p53-mediated cell death of cortical progenitors and immature neurons

(2018) Miriam A. Vogt et al.   Scientific Reports

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease

(2018) Nobutaka Sakae et al.   Acta Neuropathologica Communications

The impact of histone post-translational modifications in neurodegenerative diseases

(2018) Samantha N. Cobos et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis

(2017) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

The DNA Damage Response in Neurons: Die by Apoptosis or Survive in a Senescence-Like State?

(2017) Edward Fielder et al.   JOURNAL OF ALZHEIMERS DISEASE

chromVAR: inferring transcription-factor-associated accessibility from single-cell epigenomic data

(2017) Alicia N Schep et al.   NATURE METHODS

An improved ATAC-seq protocol reduces background and enables interrogation of frozen tissues

(2017) M Ryan Corces et al.   NATURE METHODS

Mdm proteins: critical regulators of embry ogenesis and homeostasis

(2017) Sydney M. Moyer et al.   Journal of Molecular Cell Biology

Genome-scale measurement of off-target activity using Cas9 toxicity in high-throughput screens

(2017) David W. Morgens et al.   Nature Communications

ALS and FTD: an epigenetic perspective

(2016) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

SeqPurge: highly-sensitive adapter trimming for paired-end NGS data

(2016) Marc Sturm et al.   BMC BIOINFORMATICS

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS

(2016) Aaron D. Gitler et al.   BRAIN RESEARCH

Axon Degeneration Gated by Retrograde Activation of Somatic Pro-apoptotic Signaling

(2016) David J. Simon et al.   CELL

Systematic comparison of CRISPR/Cas9 and RNAi screens for essential genes

(2016) David W Morgens et al.   NATURE BIOTECHNOLOGY

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

(2016) Rodrigo Lopez-Gonzalez et al.   NEURON

Axonal Degeneration Is Regulated by a Transcriptional Program that Coordinates Expression of Pro- and Anti-degenerative Factors

(2016) Maya Maor-Nof et al.   NEURON

RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS

(2016) Yasushi Ito et al.   SCIENCE

The Evolution of the Ribosomal Protein–MDM2–p53 Pathway

(2016) Chad Deisenroth et al.   Cold Spring Harbor Perspectives in Medicine

Kdm5/Lid Regulates Chromosome Architecture in Meiotic Prophase I Independently of Its Histone Demethylase Activity

(2016) Liudmila Zhaunova et al.   PLoS Genetics

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

(2015) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

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

(2015) Martin H. Schludi et al.   ACTA NEUROPATHOLOGICA

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

(2015) Zhouteng Tao et al.   HUMAN MOLECULAR GENETICS

Assaying the epigenome in limited numbers of cells

(2015) William J. Greenleaf   METHODS

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

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

(2015) J. Chew et al.   SCIENCE

Regulation of Protein Quality Control by UBE4B and LSD1 through p53-Mediated Transcription

(2015) Goran Periz et al.   PLOS BIOLOGY

Mechanisms of toxicity in C9FTLD/ALS

(2014) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

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

(2014) Johnathan Cooper-Knock et al.   BRAIN

Guilty as CHARGED: p53's expanding role in disease

(2014) Jeanine L Van Nostrand et al.   CELL CYCLE

ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

(2014) Haiyan Qiu et al.   JOURNAL OF CLINICAL INVESTIGATION

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

Necroptosis Drives Motor Neuron Death in Models of Both Sporadic and Familial ALS

(2014) Diane B. Re et al.   NEURON

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

(2014) S. Mizielinska et al.   SCIENCE

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

(2014) I. Kwon et al.   SCIENCE

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

(2014) Yvonne S Davidson et al.   Acta Neuropathologica Communications

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 et al.   ACTA NEUROPATHOLOGICA

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 et al.   ACTA NEUROPATHOLOGICA

featureCounts: an efficient general purpose program for assigning sequence reads to genomic features

(2013) Y. Liao et al.   BIOINFORMATICS

Optineurin suppression causes neuronal cell death via NF-κB pathway

(2013) Mayumi Akizuki et al.   JOURNAL OF NEUROCHEMISTRY

Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position

(2013) Jason D Buenrostro et al.   NATURE METHODS

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons

(2013) Wen-Yuan Wang et al.   NATURE NEUROSCIENCE

Exome sequencing to identify de novo mutations in sporadic ALS trios

(2013) Alessandra Chesi et al.   NATURE NEUROSCIENCE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Aberrant Regulation of DNA Methylation in Amyotrophic Lateral Sclerosis: A New Target of Disease Mechanisms

(2013) Lee J. Martin et al.   Neurotherapeutics

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

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

Axonal Pruning Is Actively Regulated by the Microtubule-Destabilizing Protein Kinesin Superfamily Protein 2A

(2013) Maya Maor-Nof et al.   Cell Reports

p53 Efficiently Suppresses Tumor Development in the Complete Absence of Its Cell-Cycle Inhibitory and Proapoptotic Effectors p21, Puma, and Noxa

(2013) Liz J. Valente et al.   Cell Reports

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Distinct p53 Transcriptional Programs Dictate Acute DNA-Damage Responses and Tumor Suppression

(2011) Colleen A. Brady et al.   CELL

Neurodevelopmental movement disorders - an update on childhood motor stereotypies

(2011) SINÉAD BARRY et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A genome-scale shRNA resource for transgenic RNAi in Drosophila

(2011) Jian-Quan Ni et al.   NATURE METHODS

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

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

(2011) Alan E. Renton et al.   NEURON

Increased SOD1 association with chromatin, DNA damage, p53 activation, and apoptosis in a cellular model of SOD1-linked ALS

(2010) Livea F. Barbosa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Regulation of DNA fragmentation: the role of caspases and phosphorylation

(2010) Ikuko Kitazumi et al.   FEBS Journal

p53 at a glance

(2010) C. A. Brady et al.   JOURNAL OF CELL SCIENCE

TDP-43 Mediates Degeneration in a Novel Drosophila Model of Disease Caused by Mutations in VCP/p97

(2010) G. P. Ritson et al.   JOURNAL OF NEUROSCIENCE

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

(2010) Hans Wils et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regulation of p53 - insights into a complex process

(2009) Karen A Boehme et al.   CRITICAL REVIEWS IN BIOCHEMISTRY AND MOLECULAR BIOLOGY

Posttranslational Modification of p53: Cooperative Integrators of Function

(2009) D. W. Meek et al.   Cold Spring Harbor Perspectives in Biology

Small-Molecule Inhibitors of the MDM2-p53 Protein-Protein Interaction to Reactivate p53 Function: A Novel Approach for Cancer Therapy

(2008) Sanjeev Shangary et al.   Annual Review of Pharmacology and Toxicology

WGCNA: an R package for weighted correlation network analysis

(2008) Peter Langfelder et al.   BMC BIOINFORMATICS

Model-based Analysis of ChIP-Seq (MACS)

(2008) Yong Zhang et al.   GENOME BIOLOGY