Molecular and Cellular Mechanisms Affected in ALS

Kinetic Variability in Seeded Formation of ALS-Linked SOD1 Fibrils Across Multiple Generations

(2020) Katelyn M. Baumer et al.   ACS Chemical Neuroscience

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

(2020) Manon Boivin et al.   EMBO JOURNAL

A new mouse line with reduced GluA2 Q/R site RNA editing exhibits loss of dendritic spines, hippocampal CA1-neuron loss, learning and memory impairments and NMDA receptor-independent seizure vulnerability

(2020) Lyndsey M. Konen et al.   Molecular Brain

VAPB ER-Aggregates, A Possible New Biomarker in ALS Pathology

(2020) Maria Piera L Cadoni et al.   Cells

Returning to the Fold for Lessons in Mitochondrial Crista Diversity and Evolution

(2020) Tomáš Pánek et al.   CURRENT BIOLOGY

Lysosomal Exocytosis, Exosome Release and Secretory Autophagy: The Autophagic- and Endo-Lysosomal Systems Go Extracellular

(2020) Sandra Buratta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Cytoskeletal organization of axons in vertebrates and invertebrates

(2020) Andreas Prokop   JOURNAL OF CELL BIOLOGY

Role of dynein-dynactin complex, kinesins, motor adaptors, and their phosphorylation in dendritogenesis

(2020) Aleksandra Tempes et al.   JOURNAL OF NEUROCHEMISTRY

Cryo-EM structure of C9ORF72–SMCR8–WDR41 reveals the role as a GAP for Rab8a and Rab11a

(2020) Dan Tang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Proteomics-Based Approach Identifies Altered ER Domain Properties by ALS-Linked VAPB Mutation

(2020) Tomoyuki Yamanaka et al.   Scientific Reports

The axonal actin-spectrin lattice acts as a tension buffering shock absorber

(2020) Sushil Dubey et al.   eLife

Oxidative Stress in Cognitive and Epigenetic Aging: A Retrospective Glance

(2020) Aditi Kandlur et al.   Frontiers in Molecular Neuroscience

Skeletal-Muscle Metabolic Reprogramming in ALS-SOD1G93A Mice Predates Disease Onset and Is A Promising Therapeutic Target

(2020) Silvia Scaricamazza et al.   iScience

A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS

(2020) Owen Connolly et al.   Journal of Personalized Medicine

Antisense RNA foci are associated with nucleoli and TDP-43 mislocalization in C9orf72-ALS/FTD: a quantitative study

(2019) Olubankole Aladesuyi Arogundade et al.   ACTA NEUROPATHOLOGICA

CNS-derived extracellular vesicles from superoxide dismutase 1 (SOD1)G93A ALS mice originate from astrocytes and neurons and carry misfolded SOD1

(2019) Judith M. Silverman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RNA Dysregulation in Amyotrophic Lateral Sclerosis

(2019) Zoe Butti et al.   Frontiers in Genetics

Astrocyte adenosine deaminase loss increases motor neuron toxicity in amyotrophic lateral sclerosis

(2019) Scott P Allen et al.   BRAIN

Mutant MATR3 mouse model to explain multisystem proteinopathy

(2019) Xiao Zhang et al.   JOURNAL OF PATHOLOGY

Genetics of amyotrophic lateral sclerosis: A review

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

C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo

(2019) So Yoen Choi et al.   NATURE NEUROSCIENCE

Leukocyte Derived Microvesicles as Disease Progression Biomarkers in Slow Progressing Amyotrophic Lateral Sclerosis Patients

(2019) Daisy Sproviero et al.   Frontiers in Neuroscience

A Systematic Review of Suggested Molecular Strata, Biomarkers and Their Tissue Sources in ALS

(2019) Udaya Geetha Vijayakumar et al.   Frontiers in Neurology

Update on amyotrophic lateral sclerosis genetics

(2019) David Brenner et al.   CURRENT OPINION IN NEUROLOGY

SOD1-positive aggregate accumulation in the CNS predicts slower disease progression and increased longevity in a mutant SOD1 mouse model of ALS

(2019) Cindy Gill et al.   Scientific Reports

Dipeptide repeat (DPR) pathology in the skeletal muscle of ALS patients with C9ORF72 repeat expansion

(2019) Matthew D. Cykowski et al.   ACTA NEUROPATHOLOGICA

Whole blood microRNA expression associated with stroke: Results from the Framingham Heart Study

(2019) Joel Salinas et al.   PLoS One

Increased Interleukin-6 Levels in the Astrocyte-Derived Exosomes of Sporadic Amyotrophic Lateral Sclerosis Patients

(2019) Yong Chen et al.   Frontiers in Neuroscience

Motor Neuron Susceptibility in ALS/FTD

(2019) Audrey M. G. Ragagnin et al.   Frontiers in Neuroscience

Dysregulation of AMPA receptor subunit expression in sporadic ALS post‐mortem brain

(2019) Jenna M Gregory et al.   JOURNAL OF PATHOLOGY

C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport

(2019) Joni Vanneste et al.   Scientific Reports

Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels

(2019) Shangxi Xiao et al.   Acta Neuropathologica Communications

Lysosomal size matters

(2019) Mariana E. G. Araujo et al.   TRAFFIC

Human iPSC-derived astrocytes from ALS patients with mutated C9ORF72 show increased oxidative stress and neurotoxicity

(2019) Anastasya Birger et al.   EBioMedicine

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients

(2018) Craig L. Bennett et al.   ACTA NEUROPATHOLOGICA

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

Lymphoblastoid cell lines as a model to understand amyotrophic lateral sclerosis disease mechanisms

(2018) Orietta Pansarasa et al.   Disease Models & Mechanisms

Elongator subunit 3 (ELP3) modifies ALS through tRNA modification

(2018) Andre Bento-Abreu et al.   HUMAN MOLECULAR GENETICS

The Role of Post-Translational Modifications on Prion-Like Aggregation and Liquid-Phase Separation of FUS

(2018) Shannon Rhoads et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction

(2018) Neeraja Purandare et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2018) Ruth Chia et al.   LANCET NEUROLOGY

Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis

(2018) Alexander E. Volk et al.   Medizinische Genetik

Maintaining a Healthy Proteome during Oxidative Stress

(2018) Dana Reichmann et al.   MOLECULAR CELL

Towards a TDP-43-Based Biomarker for ALS and FTLD

(2018) Emily Feneberg et al.   MOLECULAR NEUROBIOLOGY

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

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Investigating CCNF mutations in a Taiwanese cohort with amyotrophic lateral sclerosis

(2018) Pei-Chien Tsai et al.   NEUROBIOLOGY OF AGING

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

Cell-to-cell Communication by Extracellular Vesicles: Focus on Microglia

(2018) Rosa C. Paolicelli et al.   NEUROSCIENCE

Combined deficiency of Senataxin and DNA-PKcs causes DNA damage accumulation and neurodegeneration in spinal muscular atrophy

(2018) Annapoorna Kannan et al.   NUCLEIC ACIDS RESEARCH

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons

(2018) Julia Higelin et al.   Stem Cell Research

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

(2018) Bhuvaneish T. Selvaraj et al.   Nature Communications

Small RNA Sequencing of Sporadic Amyotrophic Lateral Sclerosis Cerebrospinal Fluid Reveals Differentially Expressed miRNAs Related to Neural and Glial Activity

(2018) Rachel Waller et al.   Frontiers in Neuroscience

Linking hnRNP Function to ALS and FTD Pathology

(2018) Maria D. Purice et al.   Frontiers in Neuroscience

Pathological Proteins Are Transported by Extracellular Vesicles of Sporadic Amyotrophic Lateral Sclerosis Patients

(2018) Daisy Sproviero et al.   Frontiers in Neuroscience

Optineurin: A Coordinator of Membrane-Associated Cargo Trafficking and Autophagy

(2018) Thomas A. Ryan et al.   Frontiers in Immunology

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

(2018) Emmanuelle C. Genin et al.   NEUROBIOLOGY OF DISEASE

FUS interacts with ATP synthase beta subunit and induces mitochondrial unfolded protein response in cellular and animal models

(2018) Jianwen Deng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PD-linked CHCHD2 mutations impair CHCHD10 and MICOS complex leading to mitochondria dysfunction

(2018) Wei Zhou et al.   HUMAN MOLECULAR GENETICS

TDP-43 and RNA form amyloid-like myo-granules in regenerating muscle

(2018) Thomas O. Vogler et al.   NATURE

Loss of charge mutations in solvent exposed Lys residues of superoxide dismutase 1 do not induce inclusion formation in cultured cell models

(2018) Keith Crosby et al.   PLoS One

The Role of Mitochondria in Reactive Oxygen Species Generation and Its Implications for Neurodegenerative Diseases

(2018) Saima Kausar et al.   Cells

Ubiquitin recognition by the proteasome

(2017) Yasushi Saeki   JOURNAL OF BIOCHEMISTRY

Phosphoinositide conversion in endocytosis and the endolysosomal system

(2017) Alexander Wallroth et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetic screening in sporadic ALS and FTD

(2017) Martin R Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Novel UBQLN2 mutations linked to amyotrophic lateral sclerosis and atypical hereditary spastic paraplegia phenotype through defective HSP70-mediated proteolysis

(2017) Elisa Teyssou et al.   NEUROBIOLOGY OF AGING

Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degeneration

(2017) Julien Branchu et al.   NEUROBIOLOGY OF DISEASE

Mitophagy in neurodegeneration and aging

(2017) Elayne M. Fivenson et al.   NEUROCHEMISTRY INTERNATIONAL

Neurofilaments and Neurofilament Proteins in Health and Disease

(2017) Aidong Yuan et al.   Cold Spring Harbor Perspectives in Biology

TDP-43 misexpression causes defects in dendritic growth

(2017) Josiah J. Herzog et al.   Scientific Reports

ALS Clinical Trials Review: 20 Years of Failure. Are We Any Closer to Registering a New Treatment?

(2017) Dmitry Petrov et al.   Frontiers in Aging Neuroscience

TBK1: a new player in ALS linking autophagy and neuroinflammation

(2017) James A. Oakes et al.   Molecular Brain

Amyotrophic lateral sclerosis

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

ALS Associated Mutations in Matrin 3 Alter Protein-Protein Interactions and Impede mRNA Nuclear Export

(2017) Ashley Boehringer et al.   Scientific Reports

Stochastic Formation of Fibrillar and Amorphous Superoxide Dismutase Oligomers Linked to Amyotrophic Lateral Sclerosis

(2016) Alireza Abdolvahabi et al.   ACS Chemical Neuroscience

Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD

(2016) Alice Goode et al.   Autophagy

Proteomic analysis of FUS interacting proteins provides insights into FUS function and its role in ALS

(2016) Marisa Kamelgarn et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

The Role of Skeletal Muscle in Amyotrophic Lateral Sclerosis

(2016) Jean-Philippe Loeffler et al.   BRAIN PATHOLOGY

UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome

(2016) Roland Hjerpe et al.   CELL

Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants

(2016) Stefan Reber et al.   EMBO JOURNAL

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

(2016) Christopher P Webster et al.   EMBO JOURNAL

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD

(2016) Bahram Khosravi et al.   HUMAN MOLECULAR GENETICS

Mutant Profilin1 transgenic mice recapitulate cardinal features of motor neuron disease

(2016) Daniel Fil et al.   HUMAN MOLECULAR GENETICS

Expression of microRNAs in human post-mortem amyotrophic lateral sclerosis spinal cords provides insight into disease mechanisms

(2016) Claudia Figueroa-Romero et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Differentiation Induces Dramatic Changes in miRNA Profile, Where Loss of Dicer Diverts Differentiating SH-SY5Y Cells Toward Senescence

(2016) Abhishek Jauhari et al.   MOLECULAR NEUROBIOLOGY

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

(2016) Kevin P Kenna et al.   NATURE GENETICS

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

(2016) Wouter van Rheenen et al.   NATURE GENETICS

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

Replication study of MATR3 in familial and sporadic amyotrophic lateral sclerosis

(2016) Claire S. Leblond et al.   NEUROBIOLOGY OF AGING

Comparative analysis of C9orf72 and sporadic disease in an ALS clinic population

(2016) Mfon E. Umoh et al.   NEUROLOGY

Length-dependent axo-terminal degeneration at the neuromuscular synapses of type II muscle in SOD1 mice

(2016) C. Tallon et al.   NEUROSCIENCE

Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy

(2016) Andrew S. Moore et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Projected increase in amyotrophic lateral sclerosis from 2015 to 2040

(2016) Karissa C. Arthur et al.   Nature Communications

A faulty interaction between SOD1 and hCCS in neurodegenerative disease

(2016) Gareth S. A. Wright et al.   Scientific Reports

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

(2016) Thomas Westergard et al.   Cell Reports

Susceptibility of Mutant SOD1 to Form a Destabilized Monomer Predicts Cellular Aggregation and Toxicity but Not In vitro Aggregation Propensity

(2016) Luke McAlary et al.   Frontiers in Neuroscience

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

(2016) Elisa Onesto et al.   Acta Neuropathologica Communications

TDP-43 or FUS-induced misfolded human wild-type SOD1 can propagate intercellularly in a prion-like fashion

(2016) Edward Pokrishevsky et al.   Scientific Reports

The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair

(2015) Xiao Fang et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Nuclear matrix protein Matrin3 regulates alternative splicing and forms overlapping regulatory networks with PTB

(2015) M. B. Coelho et al.   EMBO JOURNAL

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

(2015) E. C. Genin et al.   EMBO Molecular Medicine

p62/SQSTM1 functions as a signaling hub and an autophagy adaptor

(2015) Yoshinori Katsuragi et al.   FEBS Journal

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

(2015) Vinod Sundaramoorthy et al.   HUMAN MOLECULAR GENETICS

The Disulfide Bond, but Not Zinc or Dimerization, Controls Initiation and Seeded Growth in Amyotrophic Lateral Sclerosis-linked Cu,Zn Superoxide Dismutase (SOD1) Fibrillation

(2015) Madhuri Chattopadhyay et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Drosha Inclusions Are New Components of Dipeptide-Repeat Protein Aggregates in FTLD-TDP and ALSC9orf72Expansion Cases

(2015) Sílvia Porta et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

Protective and Toxic Neuroinflammation in Amyotrophic Lateral Sclerosis

(2015) Kristopher G. Hooten et al.   Neurotherapeutics

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

(2015) Yong Yu et al.   NUCLEIC ACIDS RESEARCH

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

FUS Interacts with HSP60 to Promote Mitochondrial Damage

(2015) Jianwen Deng et al.   PLoS Genetics

Degeneration of spinal motor neurons by chronic AMPA-induced excitotoxicity in vivo and protection by energy substrates

(2015) Citlalli Netzahualcoyotzi et al.   Acta Neuropathologica Communications

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

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

The Glutamate Hypothesis in ALS: Pathophysiology and Drug Development

(2014) H. Blasco et al.   CURRENT MEDICINAL CHEMISTRY

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia

(2014) Francesc Pérez-Brangulí et al.   HUMAN MOLECULAR GENETICS

Small-molecule activator of glutamate transporter EAAT2 translation provides neuroprotection

(2014) Qiongman Kong et al.   JOURNAL OF CLINICAL INVESTIGATION

C9ORF72-ALS: P62- and ubiquitin-aggregation pathology in skeletal muscle

(2014) Matthias Türk et al.   MUSCLE & NERVE

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

(2014) Sami J Barmada et al.   Nature Chemical Biology

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers

(2014) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

ATXN2 polyQ intermediate repeats are a modifier of ALS survival

(2014) A. Chio et al.   NEUROLOGY

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

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

(2014) Bradley N. Smith et al.   NEURON

GRIP1 interlinks N-cadherin and AMPA receptors at vesicles to promote combined cargo transport into dendrites

(2014) Frank F. Heisler 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

Skeletal Muscle Satellite Cells in Amyotrophic Lateral Sclerosis

(2014) Annarita Scaramozza et al.   ULTRASTRUCTURAL PATHOLOGY

Microglia centered pathogenesis in ALS: insights in cell interconnectivity

(2014) Dora Brites et al.   Frontiers in Cellular Neuroscience

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

Worming forward: amyotrophic lateral sclerosis toxicity mechanisms and genetic interactions in Caenorhabditis elegans

(2014) Martine Therrien et al.   Frontiers in Genetics

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

(2014) Takashi Ayaki et al.   Acta Neuropathologica Communications

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

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

(2013) Sorana Ciura et al.   ANNALS OF NEUROLOGY

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

(2013) Rachele A. Saccon et al.   BRAIN

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency

(2013) Sara Cogliati et al.   CELL

Cellular therapy to target neuroinflammation in amyotrophic lateral sclerosis

(2013) Federica Rizzo et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

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

(2013) Caroline Vance 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

Mutant Copper-Zinc Superoxide Dismutase (SOD1) Induces Protein Secretion Pathway Alterations and Exosome Release in Astrocytes

(2013) Manuela Basso et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Extracellular vesicles: Exosomes, microvesicles, and friends

(2013) Graça Raposo et al.   JOURNAL OF CELL BIOLOGY

Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis

(2013) T. Sato et al.   JOURNAL OF CELL SCIENCE

FUS/TLS assembles into stress granules and is a prosurvival factor during hyperosmolar stress

(2013) Reddy Ranjith K. Sama et al.   JOURNAL OF CELLULAR PHYSIOLOGY

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

(2013) Hong Joo Kim et al.   NATURE

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

(2013) Shuo-Chien Ling et al.   NEURON

Mitochondrial Network Genes in the Skeletal Muscle of Amyotrophic Lateral Sclerosis Patients

(2013) Camilla Bernardini et al.   PLoS One

Rab39a Interacts with Phosphatidylinositol 3-Kinase and Negatively Regulates Autophagy Induced by Lipopolysaccharide Stimulation in Macrophages

(2013) Shintaro Seto et al.   PLoS One

Aggregation-triggering segments of SOD1 fibril formation support a common pathway for familial and sporadic ALS

(2013) M. I. Ivanova et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

(2013) B. Schmid 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

Structural similarity of wild-type and ALS-mutant superoxide dismutase-1 fibrils using limited proteolysis and atomic force microscopy

(2013) P. K. Chan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dopamine protects neurons against glutamate-induced excitotoxicity

(2013) A Vaarmann et al.   Cell Death & Disease

Altered microRNA expression profile in amyotrophic lateral sclerosis: a role in the regulation of NFL mRNA levels

(2013) Danae Campos-Melo et al.   Molecular Brain

An Imbalance Between Excitatory and Inhibitory Neurotransmitters in Amyotrophic Lateral Sclerosis Revealed by Use of 3-T Proton Magnetic Resonance Spectroscopy

(2013) Bradley R. Foerster et al.   JAMA Neurology

miR-125 potentiates early neural specification of human embryonic stem cells

(2012) C. Boissart et al.   DEVELOPMENT

FUS stimulates microRNA biogenesis by facilitating co-transcriptional Drosha recruitment

(2012) Mariangela Morlando et al.   EMBO JOURNAL

Loss of fused in sarcoma (FUS) promotes pathological Tau splicing

(2012) Denise Orozco et al.   EMBO REPORTS

FUS binds the CTD of RNA polymerase II and regulates its phosphorylation at Ser2

(2012) J. C. Schwartz et al.   GENES & DEVELOPMENT

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

(2012) Manohar Pilli et al.   IMMUNITY

TDP-43 and FUS RNA-binding Proteins Bind Distinct Sets of Cytoplasmic Messenger RNAs and Differently Regulate Their Post-transcriptional Fate in Motoneuron-like Cells

(2012) Claudia Colombrita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A mutation in VAPB that causes amyotrophic lateral sclerosis also causes a nuclear envelope defect

(2012) Duvinh Tran et al.   JOURNAL OF CELL SCIENCE

Role of MINOS in Mitochondrial Membrane Architecture: Cristae Morphology and Outer Membrane Interactions Differentially Depend on Mitofilin Domains

(2012) Ralf M. Zerbes et al.   JOURNAL OF MOLECULAR BIOLOGY

Expanding into new markets – VCP/p97 in endocytosis and autophagy

(2012) Monika Bug et al.   JOURNAL OF STRUCTURAL BIOLOGY

Neuromuscular effects of G93A-SOD1 expression in zebrafish

(2012) Stacey A Sakowski et al.   Molecular Neurodegeneration

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

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

(2012) Kelly L. Williams et al.   NEUROBIOLOGY OF AGING

Axonal transport deficit in a KIF5A –/– mouse model

(2012) Kathrin N. Karle et al.   NEUROGENETICS

Molecular Motor KIF5A Is Essential for GABAA Receptor Transport, and KIF5A Deletion Causes Epilepsy

(2012) Kazuo Nakajima et al.   NEURON

Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation

(2012) J. Kirby et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

(2012) Y. Kawahara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fibrillation precursor of superoxide dismutase 1 revealed by gradual tuning of the protein-folding equilibrium

(2012) L. Lang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Fig4 deficiency: A newly emerged lysosomal storage disorder?

(2012) Colin Martyn et al.   PROGRESS IN NEUROBIOLOGY

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

(2012) Boris Rogelj et al.   Scientific Reports

Abnormalities of satellite cells function in amyotrophic lateral sclerosis

(2011) Pierre-François Pradat et al.   Amyotrophic Lateral Sclerosis

Microarray analysis of peripheral blood lymphocytes from ALS patients and the SAFE detection of the KEGG ALS pathway

(2011) Jean-Luc C Mougeot et al.   BMC Medical Genomics

Wild-type and A315T mutant TDP-43 exert differential neurotoxicity in a Drosophila model of ALS

(2011) Patricia S. Estes et al.   HUMAN MOLECULAR GENETICS

Serine 403 Phosphorylation of p62/SQSTM1 Regulates Selective Autophagic Clearance of Ubiquitinated Proteins

(2011) Gen Matsumoto et al.   MOLECULAR CELL

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Astrocytes from familial and sporadic ALS patients are toxic to motor neurons

(2011) Amanda M Haidet-Phillips et al.   NATURE BIOTECHNOLOGY

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

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

(2011) Laura Ferraiuolo et al.   Nature Reviews Neurology

Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis

(2011) YongPing Chen et al.   NEUROBIOLOGY OF AGING

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

Identification of receptors and enzymes for endocannabinoids in NSC-34 cells: Relevance for in vitro studies with cannabinoids in motor neuron diseases

(2011) Miguel Moreno-Martet et al.   NEUROSCIENCE LETTERS

TDP-43 Regulates Drosophila Neuromuscular Junctions Growth by Modulating Futsch/MAP1B Levels and Synaptic Microtubules Organization

(2011) Vinay K. Godena et al.   PLoS One

Disease-Related Changes in the Cerebrospinal Fluid Metabolome in Amyotrophic Lateral Sclerosis Detected by GC/TOFMS

(2011) Anna Wuolikainen et al.   PLoS One

Matrin 3 Binds and Stabilizes mRNA

(2011) Maayan Salton et al.   PLoS One

Expression of human FUS protein in Drosophila leads to progressive neurodegeneration

(2011) Yanbo Chen et al.   Protein & Cell

When Does ALS Start? ADAR2?GluA2 Hypothesis for the Etiology of Sporadic ALS

(2011) Takuto Hideyama et al.   Frontiers in Molecular Neuroscience

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

(2010) Hitoshi Aizawa et al.   ACTA NEUROPATHOLOGICA

The Nrf2-ARE Pathway

(2010) Jeffrey A. Johnson et al.   Annals of the New York Academy of Sciences

Molecular and cellular mechanisms of excitotoxic neuronal death

(2010) Yan Wang et al.   APOPTOSIS

Endoplasmic reticulum associated protein degradation: A chaperone assisted journey to hell

(2010) Alexandra Stolz et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Metabolomic analysis of serum by (1) H NMR spectroscopy in amyotrophic lateral sclerosis

(2010) Alok Kumar et al.   CLINICA CHIMICA ACTA

Early and Late Events Induced by PolyQ-expanded Proteins

(2010) Alessandra Bertoni et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis

(2010) Han-Jou Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Marco Milanese et al.   JOURNAL OF NEUROCHEMISTRY

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

Mechanisms of mitophagy

(2010) Richard J. Youle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Evidence of endoplasmic reticular stress in the spinal motor neurons exposed to CSF from sporadic amyotrophic lateral sclerosis patients

(2010) K. Vijayalakshmi et al.   NEUROBIOLOGY OF DISEASE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Brain and spinal cord affected by amyotrophic lateral sclerosis induce differential growth factors expression in rat mesenchymal and neural stem cells

(2010) C. Nicaise et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Glutamate Receptor Ion Channels: Structure, Regulation, and Function

(2010) S. F. Traynelis et al.   PHARMACOLOGICAL REVIEWS

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Depletion of TDP-43 affectsDrosophila motoneuronsterminal synapsis and locomotive behavior

(2009) Fabian Feiguin et al.   FEBS LETTERS

Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7–RILP–p150Gluedand late endosome positioning

(2009) Nuno Rocha et al.   JOURNAL OF CELL BIOLOGY

Tight Functional Coupling of Kinesin-1A and Dynein Motors in the Bidirectional Transport of Neurofilaments

(2009) Atsuko Uchida et al.   MOLECULAR BIOLOGY OF THE CELL

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

Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin

(2009) Chen Lai et al.   Molecular Brain

Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis

(2008) Steve Vucic et al.   BRAIN

Skeletal Muscle Is a Primary Target of SOD1G93A-Mediated Toxicity

(2008) Gabriella Dobrowolny et al.   Cell Metabolism

Non-Cell-Autonomous Effect of Human SOD1G37R Astrocytes on Motor Neurons Derived from Human Embryonic Stem Cells

(2008) Maria C.N. Marchetto et al.   Cell Stem Cell

Nordihydroguaiaretic acid increases glutamate uptake in vitro and in vivo: Therapeutic implications for amyotrophic lateral sclerosis

(2008) William Boston-Howes et al.   EXPERIMENTAL NEUROLOGY

ALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1

(2008) H. Nishitoh et al.   GENES & DEVELOPMENT

Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

(2008) Claire L. Simpson et al.   HUMAN MOLECULAR GENETICS

ADrosophilaModel for Amyotrophic Lateral Sclerosis Reveals Motor Neuron Damage by Human SOD1

(2008) Melanie R. Watson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neonatal Neuronal Circuitry Shows Hyperexcitable Disturbance in a Mouse Model of the Adult-Onset Neurodegenerative Disease Amyotrophic Lateral Sclerosis

(2008) B. van Zundert et al.   JOURNAL OF NEUROSCIENCE

Endoplasmic reticulum stress and induction of the unfolded protein response in human sporadic amyotrophic lateral sclerosis

(2008) Julie D. Atkin et al.   NEUROBIOLOGY OF DISEASE

Messenger RNA Oxidation Occurs Early in Disease Pathogenesis and Promotes Motor Neuron Degeneration in ALS

(2008) Yueming Chang et al.   PLoS One

Superoxide dismutase 1 (SOD1) is essential for H2O2-mediated oxidation and inactivation of phosphatases in growth factor signaling

(2008) J. C. Juarez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

The VAP protein family: from cellular functions to motor neuron disease

(2008) Sima Lev et al.   TRENDS IN CELL BIOLOGY