Current developments in gene therapy for amyotrophic lateral sclerosis

Sporadic and hereditary amyotrophic lateral sclerosis (ALS)

(2015) Senda Ajroud-Driss et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Widespread and Efficient Transduction of Spinal Cord and Brain Following Neonatal AAV Injection and Potential Disease Modifying Effect in ALS Mice

(2015) Jacob I Ayers et al.   MOLECULAR THERAPY

Invited Review: Decoding the pathophysiological mechanisms that underlie RNA dysregulation in neurodegenerative disorders: a review of the current state of the art

(2015) Matthew J. Walsh et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

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

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

(2014) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS

(2014) Janis Bennion Callister et al.   EXPERIMENTAL NEUROLOGY

Preservation of forelimb function by UPF1 gene therapy in a rat model of TDP-43-induced motor paralysis

(2014) K L Jackson et al.   GENE THERAPY

Clinical trials in amyotrophic lateral sclerosis: why so many negative trials and how can trials be improved?

(2014) Hiroshi Mitsumoto et al.   LANCET NEUROLOGY

Adeno-associated Virus–mediated Delivery of a Recombinant Single-chain Antibody Against Misfolded Superoxide Dismutase for Treatment of Amyotrophic Lateral Sclerosis

(2014) Priyanka Patel et al.   MOLECULAR THERAPY

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

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

Protein aggregation can inhibit clathrin-mediated endocytosis by chaperone competition

(2014) A. Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

(2014) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2014) I. Kwon et al.   SCIENCE

Therapeutic applications of mesenchymal stem cells for amyotrophic lateral sclerosis

(2014) Christina M Lewis et al.   Stem Cell Research & Therapy

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

(2013) Rachele A. Saccon et al.   BRAIN

Rescue of amyotrophic lateral sclerosis phenotype in a mouse model by intravenous AAV9-ADAR2delivery to motor neurons

(2013) Takenari Yamashita et al.   EMBO Molecular Medicine

S[+] Apomorphine is a CNS penetrating activator of the Nrf2-ARE pathway with activity in mouse and patient fibroblast models of amyotrophic lateral sclerosis

(2013) Richard J. Mead et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mitochondrial damage revealed by immunoselection for ALS-linked misfolded SOD1

(2013) S. Pickles et al.   HUMAN MOLECULAR GENETICS

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

(2013) Caroline Vance et al.   HUMAN MOLECULAR GENETICS

Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice

(2013) Erica D. Koval et al.   HUMAN MOLECULAR GENETICS

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy 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

Synergistic Effects of GDNF and VEGF on Lifespan and Disease Progression in a Familial ALS Rat Model

(2013) Dan Krakora et al.   MOLECULAR THERAPY

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

Viral Delivery of Antioxidant Genes as a Therapeutic Strategy in Experimental Models of Amyotrophic Lateral Sclerosis

(2013) Aikaterini Nanou et al.   MOLECULAR THERAPY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Knocking down metabotropic glutamate receptor 1 improves survival and disease progression in the SOD1G93A mouse model of amyotrophic lateral sclerosis

(2013) Marco Milanese 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

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

(2013) Shuo-Chien Ling et al.   NEURON

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

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

Neuronal dark matter: the emerging role of microRNAs in neurodegeneration

(2013) Emily F. Goodall et al.   Frontiers in Cellular Neuroscience

Presymptomatic Treatment with Acetylcholinesterase Antisense Oligonucleotides Prolongs Survival in ALS (G93A-SOD1) Mice

(2013) Gotkine Marc et al.   Biomed Research International

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

Group I metabotropic glutamate autoreceptors induce abnormal glutamate exocytosis in a mouse model of amyotrophic lateral sclerosis

(2012) Francesco Giribaldi et al.   NEUROPHARMACOLOGY

Aberrant Localization of FUS and TDP43 Is Associated with Misfolding of SOD1 in Amyotrophic Lateral Sclerosis

(2012) Edward Pokrishevsky et al.   PLoS One

A role for calpain-dependent cleavage of TDP-43 in amyotrophic lateral sclerosis pathology

(2012) Takenari Yamashita et al.   Nature Communications

Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis

(2011) Karin Forsberg et al.   ACTA NEUROPATHOLOGICA

Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis

(2011) Monica Nizzardo et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Gene therapy for amyotrophic lateral sclerosis

(2011) Thais Federici et al.   NEUROBIOLOGY OF DISEASE

Viral vectors for gene delivery to the central nervous system

(2011) Thomas B. Lentz et al.   NEUROBIOLOGY OF DISEASE

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

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

TDP-43 pathology in sporadic ALS occurs in motor neurons lacking the RNA editing enzyme ADAR2

(2010) Hitoshi Aizawa et al.   ACTA NEUROPATHOLOGICA

Current hypotheses for the underlying biology of amyotrophic lateral sclerosis

(2010) Jeffrey D. Rothstein   ANNALS OF NEUROLOGY

RNA Targeting Therapeutics: Molecular Mechanisms of Antisense Oligonucleotides as a Therapeutic Platform

(2010) C. Frank Bennett et al.   Annual Review of Pharmacology and Toxicology

Riluzole, Neuroprotection and Amyotrophic Lateral Sclerosis

(2010) B.C. Cheah et al.   CURRENT MEDICINAL CHEMISTRY

Abnormal exocytotic release of glutamate in a mouse model of amyotrophic lateral sclerosis

(2010) Marco Milanese et al.   JOURNAL OF NEUROCHEMISTRY

AAV4-mediated Expression of IGF-1 and VEGF Within Cellular Components of the Ventricular System Improves Survival Outcome in Familial ALS Mice

(2010) James C Dodge et al.   MOLECULAR THERAPY

CNS-targeted Viral Delivery of G-CSF in an Animal Model for ALS: Improved Efficacy and Preservation of the Neuromuscular Unit

(2010) Alexandre Henriques et al.   MOLECULAR THERAPY

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients

(2010) Karin Forsberg et al.   PLoS One

Human RPE65 Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year

(2009) Artur V. Cideciyan et al.   HUMAN GENE THERAPY

Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS

(2009) C. M. Karch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Granulocyte-colony stimulating factor improves outcome in a mouse model of amyotrophic lateral sclerosis

(2008) Claudia Pitzer et al.   BRAIN

Direct Muscle Delivery of GDNF With Human Mesenchymal Stem Cells Improves Motor Neuron Survival and Function in a Rat Model of Familial ALS

(2008) Masatoshi Suzuki et al.   MOLECULAR THERAPY

Delivery of AAV-IGF-1 to the CNS Extends Survival in ALS Mice Through Modification of Aberrant Glial Cell Activity

(2008) James C Dodge et al.   MOLECULAR THERAPY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Intraspinal cord delivery of IGF-I mediated by adeno-associated virus 2 is neuroprotective in a rat model of familial ALS

(2008) Colin K. Franz et al.   NEUROBIOLOGY OF DISEASE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE