Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

iPSC-based disease modeling and drug discovery in cardinal neurodegenerative disorders

(2022) Hideyuki Okano et al.   Cell Stem Cell

Antisense oligonucleotide silencing of FUS expression as a therapeutic approach in amyotrophic lateral sclerosis

(2022) Vladislav A. Korobeynikov et al.   NATURE MEDICINE

Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines

(2022) Emily G. Baxi et al.   NATURE NEUROSCIENCE

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity

(2022) Mariusz Berdyński et al.   Scientific Reports

Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

(2022) Ahmad Al Khleifat et al.   npj Genomic Medicine

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

(2022) Anna-Leigh Brown et al.   NATURE

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

(2022) X. Rosa Ma et al.   NATURE

Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

(2021) Arpan R. Mehta et al.   ACTA NEUROPATHOLOGICA

Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis

(2021) Kelly A. Rich et al.   Frontiers in Neuroscience

Secreted Signaling Molecules at the Neuromuscular Junction in Physiology and Pathology

(2021) Bisei Ohkawara et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Value of systematic genetic screening of patients with amyotrophic lateral sclerosis

(2021) Stephanie R Shepheard et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis

(2021) Gabriel Rodrigues Coutinho Pereira et al.   PLoS One

Proteostatic imbalance and protein spreading in amyotrophic lateral sclerosis

(2021) Maria Elena Cicardi et al.   EMBO JOURNAL

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial

(2021) John W Day et al.   LANCET NEUROLOGY

Gene therapy for ALS: A review

(2021) Defne A. Amado et al.   MOLECULAR THERAPY

Altered perivascular fibroblast activity precedes ALS disease onset

(2021) Anna Månberg et al.   NATURE MEDICINE

Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations

(2021) Flora Cheng et al.   Frontiers in Molecular Neuroscience

De novo mutations in SOD1 are a cause of ALS

(2021) Kathrin Müller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Cholesterol-functionalized DNA/RNA heteroduplexes cross the blood–brain barrier and knock down genes in the rodent CNS

(2021) Tetsuya Nagata et al.   NATURE BIOTECHNOLOGY

Interactions between ALS-linked FUS and nucleoporins are associated with defects in the nucleocytoplasmic transport pathway

(2021) Yen-Chen Lin et al.   NATURE NEUROSCIENCE

Prediagnostic Neurofilament Light Chain Levels in Amyotrophic Lateral Sclerosis

(2021) Kjetil Bjornevik et al.   NEUROLOGY

Ubiquitination of G3BP1 mediates stress granule disassembly in a context-specific manner

(2021) Youngdae Gwon et al.   SCIENCE

Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS

(2021) Alyssa N. Coyne et al.   Science Translational Medicine

C9orf72-derived arginine-rich poly-dipeptides impede phase modifiers

(2021) Hitoki Nanaura et al.   Nature Communications

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

(2021) Janel O. Johnson et al.   JAMA Neurology

Generation of Human Motor Units with Functional Neuromuscular Junctions in Microfluidic Devices

(2021) Katarina Stoklund Dittlau et al.   Jove-Journal of Visualized Experiments

Reduced PHOX2B stability causes axonal growth impairment in motor neurons with TARDBP mutations

(2021) Shio Mitsuzawa et al.   Stem Cell Reports

ALS-related FUS mutations alter axon growth in motoneurons and affect HuD/ELAVL4 and FMRP activity

(2021) Maria Giovanna Garone et al.   Communications Biology

A review of Mendelian randomization in amyotrophic lateral sclerosis

(2021) Thomas H Julian et al.   BRAIN

The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis

(2021) Kristiana Salmon et al.   BRAIN

The Role of Nucleocytoplasmic Transport Defects in Amyotrophic Lateral Sclerosis

(2021) Joni Vanneste et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Composite endpoint for ALS clinical trials based on patient preference: Patient-Ranked Order of Function (PROOF)

(2021) Ruben P A van Eijk et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Safety and efficacy of oral levosimendan in people with amyotrophic lateral sclerosis (the REFALS study): a randomised, double-blind, placebo-controlled phase 3 trial

(2021) Merit Cudkowicz et al.   LANCET NEUROLOGY

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

(2021) Wouter van Rheenen et al.   NATURE GENETICS

Suppression of mutant C9orf72 expression by a potent mixed backbone antisense oligonucleotide

(2021) Hélène Tran et al.   NATURE MEDICINE

Circulating miR-181 is a prognostic biomarker for amyotrophic lateral sclerosis

(2021) Iddo Magen et al.   NATURE NEUROSCIENCE

Multi-omic analysis of selectively vulnerable motor neuron subtypes implicates altered lipid metabolism in ALS

(2021) Hojae Lee et al.   NATURE NEUROSCIENCE

ALS antisense drug falters in phase III

(2021) Asher Mullard   NATURE REVIEWS DRUG DISCOVERY

Pathological phase transitions in ALS-FTD impair dynamic RNA–protein granules

(2021) Natalia B. Nedelsky et al.   RNA

Ribonuclease recruitment using a small molecule reduced c9ALS/FTD r(G 4 C 2 ) repeat expansion in vitro and in vivo ALS models

(2021) Jessica A. Bush et al.   Science Translational Medicine

Axonal TDP-43 condensates drive neuromuscular junction disruption through inhibition of local synthesis of nuclear encoded mitochondrial proteins

(2021) Topaz Altman et al.   Nature Communications

Control of neurotransmitter release by two distinct membrane-binding faces of the Munc13-1 C1C2B region

(2021) Marcial Camacho et al.   eLife

Parkin beyond Parkinson’s Disease—A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies

(2021) Katarzyna Gaweda-Walerych et al.   Cells

On-chip 3D neuromuscular model for drug screening and precision medicine in neuromuscular disease

(2020) Tatsuya Osaki et al.   Nature Protocols

Axon micro-dissection and transcriptome profiling reveals the in vivo RNA content of fully differentiated myelinated motor axons

(2020) Joaquina Farias et al.   RNA

C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

(2020) Aaron Burberry et al.   NATURE

Omics Approach to Axonal Dysfunction of Motor Neurons in Amyotrophic Lateral Sclerosis (ALS)

(2020) Naoki Suzuki et al.   Frontiers in Neuroscience

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis

(2020) Harold H. G. Tan et al.   ANNALS OF NEUROLOGY

Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?

(2020) Benedetta Perrone et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Genetic and functional analysis of KIF5A variants in Japanese patients with sporadic amyotrophic lateral sclerosis.

(2020) Ryoichi Nakamura et al.   NEUROBIOLOGY OF AGING

Traffic jam at the nuclear pore: All roads lead to nucleocytoplasmic transport defects in ALS/FTD

(2020) Claudia Fallini et al.   NEUROBIOLOGY OF DISEASE

Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2020) Timothy Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

TDP-43 transports ribosomal protein mRNA to regulate axonal local translation in neuronal axons

(2020) Seiichi Nagano et al.   ACTA NEUROPATHOLOGICA

A Ca2+-Dependent Switch Activates Axonal Casein Kinase 2α Translation and Drives G3BP1 Granule Disassembly for Axon Regeneration

(2020) Pabitra K. Sahoo et al.   CURRENT BIOLOGY

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study

(2020) Emilien Bernard et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Trial of Sodium Phenylbutyrate–Taurursodiol for Amyotrophic Lateral Sclerosis

(2020) Sabrina Paganoni et al.   NEW ENGLAND JOURNAL OF MEDICINE

An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3

(2020) Yasuaki Watanabe et al.   iScience

A multi-ethnic meta-analysis identifies novel genes, including ACSL5, associated with amyotrophic lateral sclerosis

(2020) Ryoichi Nakamura et al.   Communications Biology

Current Clinical Applications of In Vivo Gene Therapy with AAVs

(2020) Jerry R. Mendell et al.   MOLECULAR THERAPY

The functional organization of axonal mRNA transport and translation

(2020) Irene Dalla Costa et al.   NATURE REVIEWS NEUROSCIENCE

Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort

(2020) Maurizio Grassano et al.   NEUROLOGY

Effect of Ezogabine on Cortical and Spinal Motor Neuron Excitability in Amyotrophic Lateral Sclerosis

(2020) Brian J. Wainger et al.   JAMA Neurology

Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons

(2019) Jean-Michel Cioni et al.   CELL

A juvenile sporadic amyotrophic lateral sclerosis case with P525L mutation in the FUS gene: A rare co-occurrence of autism spectrum disorder and tremor

(2019) Nobuyuki Eura et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

Association of ATXN2 intermediate-length CAG repeats with amyotrophic lateral sclerosis correlates with the distributions of normal CAG repeat alleles among individual ethnic populations

(2019) Hiroya Naruse et al.   NEUROGENETICS

Bridging biophysics and neurology: aberrant phase transitions in neurodegenerative disease

(2019) Natalia B. Nedelsky et al.   Nature Reviews Neurology

Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia

(2019) Johannes Klaus et al.   NATURE MEDICINE

Mechanisms for the maintenance and regulation of axonal energy supply

(2019) Kelly Anne Chamberlain et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Genetics of amyotrophic lateral sclerosis: A review

(2019) Stéphane Mathis et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Modeling Motor Neuron Resilience in ALS Using Stem Cells

(2019) Ilary Allodi et al.   Stem Cell Reports

RNA Granules Hitchhike on Lysosomes for Long-Distance Transport, Using Annexin A11 as a Molecular Tether

(2019) Ya-Cheng Liao et al.   CELL

FUS-mediated regulation of acetylcholine receptor transcription at neuromuscular junctions is compromised in amyotrophic lateral sclerosis

(2019) Gina Picchiarelli et al.   NATURE NEUROSCIENCE

A clinicopathological study of ALS with L126S mutation in the SOD1 gene presenting with isolated inferior olivary hypertrophy

(2019) Makoto Hideshima et al.   NEUROPATHOLOGY

Ropinirole hydrochloride remedy for amyotrophic lateral sclerosis – Protocol for a randomized, double-blind, placebo-controlled, single-center, and open-label continuation phase I/IIa clinical trial (ROPALS trial)

(2019) Satoru Morimoto et al.   Regenerative Therapy

Hot-spot KIF5A mutations cause familial ALS

(2018) David Brenner et al.   BRAIN

Nuclear Import Receptor Inhibits Phase Separation of FUS through Binding to Multiple Sites

(2018) Takuya Yoshizawa et al.   CELL

Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation

(2018) Mario Hofweber et al.   CELL

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains

(2018) Lin Guo et al.   CELL

FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions

(2018) Seema Qamar et al.   CELL

Mitofusin 2 Regulates Axonal Transport of Calpastatin to Prevent Neuromuscular Synaptic Elimination in Skeletal Muscles

(2018) Luwen Wang et al.   Cell Metabolism

Emerging antisense oligonucleotide and viral therapies for amyotrophic lateral sclerosis

(2018) Cindy V. Ly et al.   CURRENT OPINION IN NEUROLOGY

Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias

(2018) Kyle Denton et al.   HUMAN MOLECULAR GENETICS

Palladin Is a Neuron-Specific Translational Target of mTOR Signaling That Regulates Axon Morphogenesis

(2018) Yusuke Umegaki et al.   JOURNAL OF NEUROSCIENCE

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

(2018) Ruth Chia et al.   LANCET NEUROLOGY

The prion-like domain of FUS is multiphosphorylated following DNA damage without altering nuclear localization

(2018) Shannon N. Rhoads et al.   MOLECULAR BIOLOGY OF THE CELL

Frequency and characteristics of the TBK1 gene variants in Japanese patients with sporadic amyotrophic lateral sclerosis

(2018) Genki Tohnai et al.   NEUROBIOLOGY OF AGING

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

(2018) David Adams et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

ALS Genes in the Genomic Era and their Implications for FTD

(2018) Hung Phuoc Nguyen et al.   TRENDS IN GENETICS

Inhibiting p38 MAPK alpha rescues axonal retrograde transport defects in a mouse model of ALS

(2018) Katherine L. Gibbs et al.   Cell Death & Disease

Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation

(2018) Marcel Naumann et al.   Nature Communications

Elimination of TDP-43 inclusions linked to amyotrophic lateral sclerosis by a misfolding-specific intrabody with dual proteolytic signals

(2018) Yoshitaka Tamaki et al.   Scientific Reports

Modeling Environmentally-Induced Motor Neuron Degeneration in Zebrafish

(2018) Jessica R. Morrice et al.   Scientific Reports

Loss of Sfpq Causes Long-Gene Transcriptopathy in the Brain

(2018) Akihide Takeuchi et al.   Cell Reports

Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity

(2018) Elke Bogaert et al.   Cell Reports

Parkin is a disease modifier in the mutant SOD1 mouse model of ALS

(2018) Gloria M Palomo et al.   EMBO Molecular Medicine

Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent

(2018) Koki Fujimori et al.   NATURE MEDICINE

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS

(2018) Hiroya Naruse et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

(2018) Jone López-Erauskin et al.   NEURON

Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo

(2018) Sílvia Porta et al.   Nature Communications

Dynamic neuromuscular remodeling precedes motor-unit loss in a mouse model of ALS

(2018) Éric Martineau et al.   eLife

How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy

(2017) N N Singh et al.   GENE THERAPY

Mitochondrial abnormalities and disruption of the neuromuscular junction precede the clinical phenotype and motor neuron loss in hFUSWT transgenic mice

(2017) Eva So et al.   HUMAN MOLECULAR GENETICS

Amyotrophic lateral sclerosis-associated mutant SOD1 inhibits anterograde axonal transport of mitochondria by reducing Miro1 levels

(2017) Annekathrin Moller et al.   HUMAN MOLECULAR GENETICS

Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype

(2017) Alison L. Hogan et al.   HUMAN MOLECULAR GENETICS

Differential roles of α-, β-, and γ-actin in axon growth and collateral branch formation in motoneurons

(2017) Mehri Moradi et al.   JOURNAL OF CELL BIOLOGY

Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature

(2017) Maria Pia Giannoccaro et al.   JOURNAL OF NEUROLOGY

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2017) Zhang-Yu Zou et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The dendritic spine morphogenic effects of repeated cocaine use occur through the regulation of serum response factor signaling

(2017) M E Cahill et al.   MOLECULAR PSYCHIATRY

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Cell diversity and network dynamics in photosensitive human brain organoids

(2017) Giorgia Quadrato et al.   NATURE

C9orf72 expansion disrupts ATM-mediated chromosomal break repair

(2017) Callum Walker et al.   NATURE NEUROSCIENCE

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS

(2017) Shirley Yin-Yu Pang et al.   NEUROBIOLOGY OF AGING

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis

(2017) Ayumi Nishiyama et al.   NEUROBIOLOGY OF AGING

Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?

(2017) Kurt J. De Vos et al.   NEUROBIOLOGY OF DISEASE

The evolving genetic risk for sporadic ALS

(2017) Summer B. Gibson et al.   NEUROLOGY

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

(2017) Swapna Thomas-Jinu et al.   NEURON

Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases

(2017) Hong Joo Kim et al.   NEURON

Enhanced Bulbar Function in Amyotrophic Lateral Sclerosis: The Nuedexta Treatment Trial

(2017) Richard Smith et al.   Neurotherapeutics

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Trogocytosis of peptide–MHC class II complexes from dendritic cells confers antigen-presenting ability on basophils

(2017) Kensuke Miyake et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

(2017) Bradley N. Smith et al.   Science Translational Medicine

The Src/c-Abl pathway is a potential therapeutic target in amyotrophic lateral sclerosis

(2017) Keiko Imamura et al.   Science Translational Medicine

Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis

(2017) Beben Benyamin et al.   Nature Communications

HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patients

(2017) Wenting Guo et al.   Nature Communications

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

(2017) Guillaume M. Hautbergue et al.   Nature Communications

Genetics of Amyotrophic Lateral Sclerosis

(2017) Mehdi Ghasemi et al.   Cold Spring Harbor Perspectives in Medicine

A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis

(2017) Brittany M Edens et al.   eLife

Genetic Correction of SOD1 Mutant iPSCs Reveals ERK and JNK Activated AP1 as a Driver of Neurodegeneration in Amyotrophic Lateral Sclerosis

(2017) Akshay Bhinge et al.   Stem Cell Reports

Generation of a Motor Nerve Organoid with Human Stem Cell-Derived Neurons

(2017) Jiro Kawada et al.   Stem Cell Reports

Amyotrophic lateral sclerosis

(2017) Orla Hardiman et al.   Nature Reviews Disease Primers

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases

(2017) Tetsuro Matsuhashi et al.   EBioMedicine

ALS Along the Axons – Expression of Coding and Noncoding RNA Differs in Axons of ALS models

(2017) Nimrod Rotem et al.   Scientific Reports

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

(2016) Sorana Ciura et al.   Autophagy

Prominent sensory involvement in a case of familial amyotrophic lateral sclerosis carrying the L8V SOD1 mutation

(2016) Ayumi Nishiyama et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1 ‐ and SOD1 ‐linked ALS

(2016) Seiji Watanabe et al.   EMBO Molecular Medicine

The multiple sclerosis drug fingolimod (FTY720) stimulates neuronal gene expression, axonal growth and regeneration

(2016) Sofia Anastasiadou et al.   EXPERIMENTAL NEUROLOGY

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Facilitation of axon regeneration by enhancing mitochondrial transport and rescuing energy deficits

(2016) Bing Zhou et al.   JOURNAL OF CELL BIOLOGY

Amyotrophic lateral sclerosis and motor neuron syndromes in Asia

(2016) N Shahrizaila et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Defining SOD1 ALS natural history to guide therapeutic clinical trial design

(2016) Taha Bali et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Compartment-Specific Regulation of Autophagy in Primary Neurons

(2016) Sandra Maday et al.   JOURNAL OF NEUROSCIENCE

Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

(2016) Claudia Fallini et al.   JOURNAL OF NEUROSCIENCE

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis withFUS/TLSmutations in Japan

(2016) Tetsuya Akiyama et al.   MUSCLE & NERVE

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons

(2016) Rajeeve Sivadasan et al.   NATURE NEUROSCIENCE

The RNA-binding protein SFPQ orchestrates an RNA regulon to promote axon viability

(2016) Katharina E Cosker et al.   NATURE NEUROSCIENCE

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

(2016) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

(2016) Annelot M. Dekker et al.   NEUROBIOLOGY OF AGING

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort

(2016) Ryoichi Nakamura et al.   NEUROBIOLOGY OF AGING

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

(2016) Jie Jiang et al.   NEURON

RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS

(2016) Yasushi Ito et al.   SCIENCE

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

(2016) Aaron Burberry et al.   Science Translational Medicine

Transport Selectivity of Nuclear Pores, Phase Separation, and Membraneless Organelles

(2016) H. Broder Schmidt et al.   TRENDS IN BIOCHEMICAL SCIENCES

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins

(2016) Faxiang Li et al.   Nature Communications

Monitoring peripheral nerve degeneration in ALS by label-free stimulated Raman scattering imaging

(2016) Feng Tian et al.   Nature Communications

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis

(2016) Seshiru Nakazawa et al.   Nature Communications

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

(2016) Kelly L. Williams et al.   Nature Communications

Unraveling gene expression profiles in peripheral motor nerve from amyotrophic lateral sclerosis patients: insights into pathogenesis

(2016) Nilo Riva et al.   Scientific Reports

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

(2016) Thomas Westergard et al.   Cell Reports

H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression

(2016) Zhang-Yu Zou et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Distinct stages in stress granule assembly and disassembly

(2016) Joshua R Wheeler et al.   eLife

Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem Cells

(2016) Naoki Ichiyanagi et al.   Stem Cell Reports

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration

(2015) Nathalie Bernard-Marissal et al.   BRAIN

Rational, computer-enabled peptide drug design: principles, methods, applications and future directions

(2015) David J Diller et al.   Future Medicinal Chemistry

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

(2015) Andrea Citterio et al.   JOURNAL OF NEUROLOGY

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

(2015) Gabrielle Wheway et al.   NATURE CELL BIOLOGY

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

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients

(2015) Annemarie Hübers et al.   NEUROBIOLOGY OF AGING

Multisystem proteinopathy: Table

(2015) J. Paul Taylor   NEUROLOGY

Endolysosomal Deficits Augment Mitochondria Pathology in Spinal Motor Neurons of Asymptomatic fALS Mice

(2015) Yuxiang Xie et al.   NEURON

Whole transcriptome profiling reveals the RNA content of motor axons

(2015) Michael Briese et al.   NUCLEIC ACIDS RESEARCH

Atomic-resolution structure of the CAP-Gly domain of dynactin on polymeric microtubules determined by magic angle spinning NMR spectroscopy

(2015) Si Yan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

Surveillance of Nuclear Pore Complex Assembly by ESCRT-III/Vps4

(2014) Brant M. Webster et al.   CELL

SMN regulates axonal local translation via miR-183/mTOR pathway

(2014) Min Jeong Kye et al.   HUMAN MOLECULAR GENETICS

ALS—dying forward, backward or outward?

(2014) Mark R. Baker   Nature Reviews Neurology

A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

(2014) Andrea Calvo et al.   NEUROBIOLOGY OF AGING

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Increased Axonal Ribosome Numbers Is an Early Event in the Pathogenesis of Amyotrophic Lateral Sclerosis

(2014) Mark H. G. Verheijen et al.   PLoS One

iPS cell technologies: significance and applications to CNS regeneration and disease

(2014) Hideyuki Okano et al.   Molecular Brain

A post hoc analysis of subgroup outcomes and creatinine in the phase III clinical trial (EMPOWER) of dexpramipexole in ALS

(2014) Michael E. Bozik et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

ALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease

(2014) Elizabeth B. Moloney et al.   Frontiers in Neuroscience

ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19

(2013) Yuji Takahashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS

(2013) Gary A.B. Armstrong et al.   HUMAN MOLECULAR GENETICS

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

(2013) I. Fogh et al.   HUMAN MOLECULAR GENETICS

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

(2013) Ewout J.N. Groen et al.   HUMAN MOLECULAR GENETICS

Abnormal mitochondrial transport and morphology are common pathological denominators in SOD1 and TDP43 ALS mouse models

(2013) Jordi Magrané et al.   HUMAN MOLECULAR GENETICS

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Genome-wide association analyses in Han Chinese identify two new susceptibility loci for amyotrophic lateral sclerosis

(2013) Min Deng et al.   NATURE GENETICS

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Axonal transport deficits and neurodegenerative diseases

(2013) Stéphanie Millecamps et al.   NATURE REVIEWS NEUROSCIENCE

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

(2013) Annemarie Hübers et al.   NEUROBIOLOGY OF AGING

Clinical Neurogenetics

(2013) Matthew B. Harms et al.   NEUROLOGIC CLINICS

Motor neuron involvement in multisystem proteinopathy: Implications for ALS

(2013) M. Benatar et al.   NEUROLOGY

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

(2013) Shuo-Chien Ling et al.   NEURON

SA4503, a sigma-1 receptor agonist, suppresses motor neuron damage in in vitro and in vivo amyotrophic lateral sclerosis models

(2013) Yoko Ono et al.   NEUROSCIENCE LETTERS

De Novo Mutations in Ataxin-2 Gene and ALS Risk

(2013) José Miguel Laffita-Mesa et al.   PLoS One

Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization

(2013) F. Rage et al.   RNA

Stress granules and cell signaling: more than just a passing phase?

(2013) Nancy Kedersha et al.   TRENDS IN BIOCHEMICAL SCIENCES

Prion-like Properties of Pathological TDP-43 Aggregates from Diseased Brains

(2013) Takashi Nonaka et al.   Cell Reports

The Combined Assessment of Function and Survival (CAFS): A new endpoint for ALS clinical trials

(2013) James D. Berry et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

C9ORF72 Repeat Expansion in Amyotrophic Lateral Sclerosis in the Kii Peninsula of Japan

(2012) Hiroyuki Ishiura et al.   ARCHIVES OF NEUROLOGY

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disruption of Axonal Transport in Motor Neuron Diseases

(2012) Kensuke Ikenaka et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72

(2012) T. Konno et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

FUS/TLS-immunoreactive Neuronal and Glial Cell Inclusions Increase With Disease Duration in Familial Amyotrophic Lateral Sclerosis With an R521CFUS/TLSMutation

(2012) Naoki Suzuki et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

ALS-Associated Ataxin 2 PolyQ Expansions Enhance Stress-Induced Caspase 3 Activation and Increase TDP-43 Pathological Modifications

(2012) M. P. Hart et al.   JOURNAL OF NEUROSCIENCE

Targeting of Monomer/Misfolded SOD1 as a Therapeutic Strategy for Amyotrophic Lateral Sclerosis

(2012) H.-N. Liu et al.   JOURNAL OF NEUROSCIENCE

A novel method to study the local mitochondrial fusion in myelinated axons in vivo

(2012) Chuan-Li Zhang et al.   JOURNAL OF NEUROSCIENCE METHODS

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair

(2012) Hosung Jung et al.   NATURE REVIEWS NEUROSCIENCE

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis

(2012) Kotaro Ogaki et al.   NEUROBIOLOGY OF AGING

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

(2012) P. Corcia et al.   NEUROLOGY

Mapping of Gene Expression Reveals CYP27A1 as a Susceptibility Gene for Sporadic ALS

(2012) Frank P. Diekstra et al.   PLoS One

mRNA Localization: An Orchestration of Assembly, Traffic and Synthesis

(2012) Lei Xing et al.   TRAFFIC

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclusion body disease

(2011) Hidefumi Ito et al.   ACTA NEUROPATHOLOGICA

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese

(2011) Aritoshi Iida et al.   HUMAN MOLECULAR GENETICS

A Seeding Reaction Recapitulates Intracellular Formation of Sarkosyl-insoluble Transactivation Response Element (TAR) DNA-binding Protein-43 Inclusions

(2011) Yoshiaki Furukawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

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

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion

(2010) Naoki Suzuki et al.   JOURNAL OF HUMAN GENETICS

The “Dying-Back” Phenomenon of Motor Neurons in ALS

(2010) Michal Dadon-Nachum et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Loss of ALS2/Alsin Exacerbates Motor Dysfunction in a SOD1H46R-Expressing Mouse ALS Model by Disturbing Endolysosomal Trafficking

(2010) Shinji Hadano et al.   PLoS One

Progranulin is Neurotrophic In Vivo and Protects against a Mutant TDP-43 Induced Axonopathy

(2010) Angela S. Laird et al.   PLoS One

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons

(2009) Sandra Duque et al.   MOLECULAR THERAPY

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Kinesin superfamily motor proteins and intracellular transport

(2009) Nobutaka Hirokawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Age and founder effect of SOD1 A4V mutation causing ALS

(2009) M. Saeed et al.   NEUROLOGY

Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis

(2009) J. E. Landers 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

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity

(2008) Bettina Ebbing et al.   HUMAN MOLECULAR GENETICS

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Label-Free Biomedical Imaging with High Sensitivity by Stimulated Raman Scattering Microscopy

(2008) Christian W. Freudiger et al.   SCIENCE

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics