Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders

Bromodomains: Structure, function and pharmacology of inhibition

(2016) Elena Ferri et al.   BIOCHEMICAL PHARMACOLOGY

C9orf72 isoforms in Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2016) Shangxi Xiao et al.   BRAIN RESEARCH

Post-ischemic salubrinal treatment results in a neuroprotective role in global cerebral ischemia

(2016) Berta Anuncibay-Soto et al.   JOURNAL OF NEUROCHEMISTRY

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

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

(2016) Steven Boeynaems et al.   Scientific Reports

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

(2015) Zhengrui Xi et al.   ACTA NEUROPATHOLOGICA

C9orf72-related disorders: expanding the clinical and genetic spectrum of neurodegenerative diseases

(2015) Paulo Victor Sgobbi de Souza et al.   ARQUIVOS DE NEURO-PSIQUIATRIA

Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

(2015) Giuseppe Marangi et al.   BRAIN RESEARCH

Tauroursodeoxycholic acid in the treatment of patients with amyotrophic lateral sclerosis

(2015) A. E. Elia et al.   EUROPEAN JOURNAL OF NEUROLOGY

Bromodomain inhibitors regulate the C9ORF72 locus in ALS

(2015) Zane Zeier et al.   EXPERIMENTAL NEUROLOGY

Experimental Evidence Shows Salubrinal, an eIF2α Dephosphorylation Inhibitor, Reduces Xenotoxicant-Induced Cellular Damage

(2015) Masato Matsuoka et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

CRISPR-Cas9: a new and promising player in gene therapy

(2015) Lu Xiao-Jie et al.   JOURNAL OF MEDICAL GENETICS

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

(2015) I Gijselinck et al.   MOLECULAR PSYCHIATRY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

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

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Spinal muscular atrophy—recent therapeutic advances for an old challenge

(2015) Irene Faravelli et al.   Nature Reviews Neurology

C9orf72 repeats compromise nucleocytoplasmic transport

(2015) Marka van Blitterswijk et al.   Nature Reviews Neurology

The Neuroprotective Effect of Salubrinal in a Mouse Model of Traumatic Brain Injury

(2015) Vardit Rubovitch et al.   NEUROMOLECULAR MEDICINE

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

(2015) Monica Nizzardo et al.   Scientific Reports

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

(2014) Yong-Jie Zhang et al.   ACTA NEUROPATHOLOGICA

Effect of Combined Systemic and Local Morpholino Treatment on the Spinal Muscular Atrophy Δ7 Mouse Model Phenotype

(2014) Monica Nizzardo et al.   CLINICAL THERAPEUTICS

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

(2014) Sarah Mizielinska et al.   CURRENT OPINION IN NEUROLOGY

The potential of adeno-associated viral vectors for gene delivery to muscle tissue

(2014) Dan Wang et al.   Expert Opinion on Drug Delivery

Therapeutic potentials of gene silencing by RNA interference: Principles, challenges, and new strategies

(2014) Yan Deng et al.   GENE

Delayed Disease Onset and Extended Survival in the SOD1G93A Rat Model of Amyotrophic Lateral Sclerosis after Suppression of Mutant SOD1 in the Motor Cortex

(2014) G. M. Thomsen et al.   JOURNAL OF NEUROSCIENCE

Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases

(2014) Giulietta Riboldi et al.   MOLECULAR NEUROBIOLOGY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su 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

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia

(2013) Pietro Fratta 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

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

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of function of C9orf72 causes motor deficits in a zebrafish model of Amyotrophic Lateral Sclerosis

(2013) Sorana Ciura et al.   ANNALS OF NEUROLOGY

Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy

(2013) Paul N. Porensky et al.   HUMAN GENE THERAPY

TMPyP4 Porphyrin Distorts RNA G-quadruplex Structures of the Disease-associated r(GGGGCC)nRepeat of theC9orf72Gene and Blocks Interaction of RNA-binding Proteins

(2013) Bita Zamiri et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

Therapeutic AAV9-mediated Suppression of Mutant SOD1 Slows Disease Progression and Extends Survival in Models of Inherited ALS

(2013) Kevin D Foust et al.   MOLECULAR THERAPY

Recombinant AAV as a Platform for Translating the Therapeutic Potential of RNA Interference

(2013) Florie Borel et al.   MOLECULAR THERAPY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Diversifying microRNA sequence and function

(2013) Stefan L. Ameres et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo

(2013) Alexandra Vaccaro et al.   NEUROBIOLOGY OF DISEASE

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

Gene Therapy for Misfolding Protein Diseases of the Central Nervous System

(2013) Waldy San Sebastian et al.   Neurotherapeutics

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

(2013) Martine Therrien et al.   PLoS One

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

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

(2013) C. Lagier-Tourenne 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

Lipid Nanoparticle Delivery of siRNA to Silence Neuronal Gene Expression in the Brain

(2013) Ravi L Rungta et al.   Molecular Therapy-Nucleic Acids

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

(2012) Ryszard Kole et al.   NATURE REVIEWS DRUG DISCOVERY

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

(2012) Antonia Ratti et al.   NEUROBIOLOGY OF AGING

Making sense of therapeutics using antisense technology

(2011) Ravinder Malik et al.   Expert Opinion on Drug Discovery

Bromodomains as therapeutic targets

(2011) Susanne Muller et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Several rAAV Vectors Efficiently Cross the Blood–brain Barrier and Transduce Neurons and Astrocytes in the Neonatal Mouse Central Nervous System

(2011) Hongwei Zhang et al.   MOLECULAR THERAPY

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

Efficient Allele-Specific Targeting of LRRK2 R1441 Mutations Mediated by RNAi

(2011) Laura de Yñigo-Mojado et al.   PLoS One

Selective inhibition of BET bromodomains

(2010) Panagis Filippakopoulos et al.   NATURE

Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome

(2010) Peter K. Todd et al.   PLoS Genetics

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

Bile acids: regulation of apoptosis by ursodeoxycholic acid

(2009) Joana D. Amaral et al.   JOURNAL OF LIPID RESEARCH

Identification and Allele-Specific Silencing of the Mutant Huntingtin Allele in Huntington's Disease Patient-Derived Fibroblasts

(2008) P.H.J. van Bilsen et al.   HUMAN GENE THERAPY

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY