Biology and Pathobiology of TDP-43 and Emergent Therapeutic Strategies

TDP-43 Prions

(2017) Takashi Nonaka et al.   Cold Spring Harbor Perspectives in Medicine

Fused in Sarcoma Neuropathology in Neurodegenerative Disease

(2017) Ian R.A. Mackenzie et al.   Cold Spring Harbor Perspectives in Medicine

Updated TDP-43 in Alzheimer’s disease staging scheme

(2016) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease

(2016) Zachary M. March et al.   BRAIN RESEARCH

ATPase-Modulated Stress Granules Contain a Diverse Proteome and Substructure

(2016) Saumya Jain et al.   CELL

The TDP-43 N-terminal domain structure at high resolution

(2016) Miguel Mompeán et al.   FEBS Journal

Mechanistic Insights into Hsp104 Potentiation

(2016) Mariana P. Torrente et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Engineering therapeutic protein disaggregases

(2016) James Shorter   MOLECULAR BIOLOGY OF THE CELL

ALS Mutations Disrupt Phase Separation Mediated by α-Helical Structure in the TDP-43 Low-Complexity C-Terminal Domain

(2016) Alexander E. Conicella et al.   STRUCTURE

In Vivo Formation of Vacuolated Multi-phase Compartments Lacking Membranes

(2016) Hermann Broder Schmidt et al.   Cell Reports

ALS-Causing Mutations Significantly Perturb the Self-Assembly and Interaction with Nucleic Acid of the Intrinsically Disordered Prion-Like Domain of TDP-43

(2016) Liangzhong Lim et al.   PLOS BIOLOGY

Fleeting Amyloid-like Forms of Rim4 Ensure Meiotic Fidelity

(2015) Alice Flynn Ford et al.   CELL

Regulated Formation of an Amyloid-like Translational Repressor Governs Gametogenesis

(2015) Luke E. Berchowitz et al.   CELL

Amyloidogenic Oligomerization Transforms Drosophila Orb2 from a Translation Repressor to an Activator

(2015) Mohammed Repon Khan et al.   CELL

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

(2015) Amandine Molliex et al.   CELL

TDP-43 in amyotrophic lateral sclerosis - is it a prion disease?

(2015) A. C. Ludolph et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

(2015) Zhouteng Tao et al.   HUMAN MOLECULAR GENETICS

TDP-43 is intercellularly transmitted across axon terminals

(2015) Marisa S. Feiler et al.   JOURNAL OF CELL BIOLOGY

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

(2015) Jonathan D Rohrer et al.   LANCET NEUROLOGY

The Hsp104 N-Terminal Domain Enables Disaggregase Plasticity and Potentiation

(2015) Elizabeth A. Sweeny et al.   MOLECULAR CELL

Human Hsp70 Disaggregase Reverses Parkinson’s-Linked α-Synuclein Amyloid Fibrils

(2015) Xuechao Gao et al.   MOLECULAR CELL

It’s Raining Liquids: RNA Tunes Viscoelasticity and Dynamics of Membraneless Organelles

(2015) Lin Guo et al.   MOLECULAR CELL

Formation and Maturation of Phase-Separated Liquid Droplets by RNA-Binding Proteins

(2015) Yuan Lin et al.   MOLECULAR CELL

Neurodegeneration: Problems at the nuclear pore

(2015) Bennett W. Fox et al.   NATURE

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

Crucial HSP70 co-chaperone complex unlocks metazoan protein disaggregation

(2015) Nadinath B. Nillegoda et al.   NATURE

Nuclear export inhibitors avert progression in preclinical models of inflammatory demyelination

(2015) Jeffery D Haines et al.   NATURE NEUROSCIENCE

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

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

From molecule to molecule and cell to cell: Prion-like mechanisms in amyotrophic lateral sclerosis

(2015) Leslie I. Grad et al.   NEUROBIOLOGY OF DISEASE

The Persistence of Hippocampal-Based Memory Requires Protein Synthesis Mediated by the Prion-like Protein CPEB3

(2015) Luana Fioriti et al.   NEURON

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

(2015) Helene Tran et al.   NEURON

Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR

(2015) Claire E. Wainwright et al.   NEW ENGLAND JOURNAL OF MEDICINE

Engineering enhanced protein disaggregases for neurodegenerative disease

(2015) Meredith E Jackrel et al.   Prion

The structural integrity of TDP-43 N-terminus is required for efficient aggregate entrapment and consequent loss of protein function

(2015) Valentina Romano et al.   Prion

Differential effects of Ydj1 and Sis1 on Hsp70-mediated clearance of stress granules inSaccharomyces cerevisiae

(2015) Robert W. Walters et al.   RNA

Preventing proteostasis diseases by selective inhibition of a phosphatase regulatory subunit

(2015) I. Das et al.   SCIENCE

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

From nucleation to widespread propagation: A prion-like concept for ALS

(2015) Zuzanna Maniecka et al.   VIRUS RESEARCH

Partial restoration of protein synthesis rates by the small molecule ISRIB prevents neurodegeneration without pancreatic toxicity

(2015) M Halliday et al.   Cell Death & Disease

An acetylation switch controls TDP-43 function and aggregation propensity

(2015) Todd J. Cohen et al.   Nature Communications

SUMOylation Is an Inhibitory Constraint that Regulates the Prion-like Aggregation and Activity of CPEB3

(2015) Bettina Drisaldi et al.   Cell Reports

The CPEB3 Protein Is a Functional Prion that Interacts with the Actin Cytoskeleton

(2015) Joseph S. Stephan et al.   Cell Reports

The small molecule ISRIB reverses the effects of eIF2α phosphorylation on translation and stress granule assembly

(2015) Carmela Sidrauski et al.   eLife

Promiscuous interactions and protein disaggregases determine the material state of stress-inducible RNP granules

(2015) Sonja Kroschwald et al.   eLife

Metabolic and Chaperone Gene Loss Marks the Origin of Animals: Evidence for Hsp104 and Hsp78 Chaperones Sharing Mitochondrial Enzymes as Clients

(2015) Albert J. Erives et al.   PLoS One

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

TDP-43 is a key player in the clinical features associated with Alzheimer’s disease

(2014) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

(2014) David J. Irwin et al.   ACTA NEUROPATHOLOGICA

Binding of TDP-43 to the 3′UTR of Its Cognate mRNA Enhances Its Solubility

(2014) Yulong Sun et al.   BIOCHEMISTRY

Potentiated Hsp104 Variants Antagonize Diverse Proteotoxic Misfolding Events

(2014) Meredith E. Jackrel et al.   CELL

Reversing deleterious protein aggregation with re-engineered protein disaggregases

(2014) Meredith E Jackrel et al.   CELL CYCLE

Potentiated Hsp104 variants suppress toxicity of diverse neurodegenerative disease-linked proteins

(2014) M. E. Jackrel et al.   Disease Models & Mechanisms

TDP‐1, theCaenorhabditis elegansortholog of TDP‐43, limits the accumulation of double‐stranded RNA

(2014) Tassa K Saldi et al.   EMBO JOURNAL

TDP-43 loss of cellular function through aggregation requires additional structural determinants beyond its C-terminal Q/N prion-like domain

(2014) Mauricio Budini et al.   HUMAN MOLECULAR GENETICS

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

(2014) Natássia M. Vieira et al.   HUMAN MOLECULAR GENETICS

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

(2014) E. L. Scotter et al.   JOURNAL OF CELL SCIENCE

TDP-43 in Alzheimer’s disease is not associated with clinical FTLD or Parkinsonism

(2014) Youngsin Jung et al.   JOURNAL OF NEUROLOGY

Futsch/MAP1B mRNA Is a Translational Target of TDP-43 and Is Neuroprotective in a Drosophila Model of Amyotrophic Lateral Sclerosis

(2014) A. N. Coyne et al.   JOURNAL OF NEUROSCIENCE

ALS-Linked Mutations Enlarge TDP-43-Enriched Neuronal RNA Granules in the Dendritic Arbor

(2014) L. Liu-Yesucevitz et al.   JOURNAL OF NEUROSCIENCE

Astrocytic TDP-43 Pathology in Alexander Disease

(2014) A. K. Walker et al.   JOURNAL OF NEUROSCIENCE

Self-Assembling Properties of Peptides Derived from TDP-43 C-Terminal Fragment

(2014) Akash Saini et al.   LANGMUIR

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

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

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

TDP-43 in ALS: Stay on Target…Almost There

(2014) Ana Jovičić et al.   NEURON

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

(2014) Nael H. Alami et al.   NEURON

The crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids

(2014) P.-H. Kuo et al.   NUCLEIC ACIDS RESEARCH

The metazoan protein disaggregase and amyloid depolymerase system

(2014) Mariana P Torrente et al.   Prion

TDP-43 N terminus encodes a novel ubiquitin-like fold and its unfolded form in equilibrium that can be shifted by binding to ssDNA

(2014) Haina Qin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clogging information flow in ALS

(2014) J. W. Paul et al.   SCIENCE

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

Full-length TDP-43 forms toxic amyloid oligomers that are present in frontotemporal lobar dementia-TDP patients

(2014) Yu-Sheng Fang et al.   Nature Communications

Targeted Exon Capture and Sequencing in Sporadic Amyotrophic Lateral Sclerosis

(2014) Julien Couthouis et al.   PLoS Genetics

Inhibiting drug efflux transporters improves efficacy of ALS therapeutics

(2014) Michael R. Jablonski et al.   Annals of Clinical and Translational Neurology

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

(2013) Ian R. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori 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

Staging TDP-43 pathology in Alzheimer’s disease

(2013) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

Biology and Genetics of Prions Causing Neurodegeneration

(2013) Stanley B. Prusiner   Annual Review of Genetics

Loss of TDP-43 causes age-dependent progressive motor neuron degeneration

(2013) Yohei Iguchi et al.   BRAIN

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

(2013) J. Ross Buchan et al.   CELL

Altered Ribostasis: RNA-Protein Granules in Degenerative Disorders

(2013) Mani Ramaswami et al.   CELL

Coordination of Translational Control and Protein Homeostasis during Severe Heat Stress

(2013) Valeria Cherkasov et al.   CURRENT BIOLOGY

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

(2013) Yong-Jie Zhang et al.   HUMAN MOLECULAR GENETICS

TARDBPandFUSMutations Associated with Amyotrophic Lateral Sclerosis: Summary and Update

(2013) Serena Lattante et al.   HUMAN MUTATION

Hsp110 Is aBona FideChaperone Using ATP to Unfold Stable Misfolded Polypeptides and Reciprocally Collaborate with Hsp70 to Solubilize Protein Aggregates

(2013) Rayees U. H. Mattoo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Truncated C-terminal RNA Recognition Motif of TDP-43 Protein Plays a Key Role in Forming Proteinaceous Aggregates

(2013) Yi-Ting Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

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

(2013) Hong Joo Kim et al.   NATURE

Therapeutic modulation of eIF2α phosphorylation rescues TDP-43 toxicity in amyotrophic lateral sclerosis disease models

(2013) Hyung-Jun Kim et al.   NATURE GENETICS

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

(2013) Peter J Lukavsky et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2013) Alexandra Vaccaro et al.   NEUROBIOLOGY OF DISEASE

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

Inhibition of TDP-43 Aggregation by Nucleic Acid Binding

(2013) Yi-Chen Huang et al.   PLoS One

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

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

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

(2013) K. Mori et al.   SCIENCE

Oral Treatment Targeting the Unfolded Protein Response Prevents Neurodegeneration and Clinical Disease in Prion-Infected Mice

(2013) J. A. Moreno et al.   Science Translational Medicine

An emerging role for misfolded wild-type SOD1 in sporadic ALS pathogenesis

(2013) Melissa S. Rotunno et al.   Frontiers in Cellular Neuroscience

Discovery of GSK2656157: An Optimized PERK Inhibitor Selected for Preclinical Development

(2013) Jeffrey M. Axten et al.   ACS Medicinal Chemistry Letters

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

(2013) Takashi Nonaka et al.   Cell Reports

Pharmacological brake-release of mRNA translation enhances cognitive memory

(2013) Carmela Sidrauski et al.   eLife

Distinct TDP-43 pathology in ALS patients with ataxin 2 intermediate-length polyQ expansions

(2012) Michael P. Hart et al.   ACTA NEUROPATHOLOGICA

TDP-43 skeins show properties of amyloid in a subset of ALS cases

(2012) John L. Robinson et al.   ACTA NEUROPATHOLOGICA

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease

(2012) Oliver D. King et al.   BRAIN RESEARCH

Critical Role of Amyloid-like Oligomers of Drosophila Orb2 in the Persistence of Memory

(2012) Amitabha Majumdar et al.   CELL

Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels

(2012) Masato Kato et al.   CELL

Cell-free Formation of RNA Granules: Bound RNAs Identify Features and Components of Cellular Assemblies

(2012) Tina W. Han et al.   CELL

The Amyloid State of Proteins in Human Diseases

(2012) David Eisenberg et al.   CELL

Metazoan Hsp70 machines use Hsp110 to power protein disaggregation

(2012) Heike Rampelt et al.   EMBO JOURNAL

Autoregulation of TDP-43 mRNA levels involves interplay between transcription, splicing, and alternative polyA site selection

(2012) S. E. Avendano-Vazquez et al.   GENES & DEVELOPMENT

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

Requirements for Stress Granule Recruitment of Fused in Sarcoma (FUS) and TAR DNA-binding Protein of 43 kDa (TDP-43)

(2012) Eva Bentmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Targeted Depletion of TDP-43 Expression in the Spinal Cord Motor Neurons Leads to the Development of Amyotrophic Lateral Sclerosis-like Phenotypes in Mice

(2012) Lien-Szu Wu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Caenorhabditis elegansRNA-processing Protein TDP-1 Regulates Protein Homeostasis and Life Span

(2012) Tao Zhang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Prion-like spread of protein aggregates in neurodegeneration: Figure 1.

(2012) Magdalini Polymenidou et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Discovery of 7-Methyl-5-(1-{[3-(trifluoromethyl)phenyl]acetyl}-2,3-dihydro-1H-indol-5-yl)-7H-pyrrolo[2,3-d]pyrimidin-4-amine (GSK2606414), a Potent and Selective First-in-Class Inhibitor of Protein Kinase R (PKR)-like Endoplasmic Reticulum Kinase (PERK)

(2012) Jeffrey M. Axten et al.   JOURNAL OF MEDICINAL CHEMISTRY

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

Prions are a common mechanism for phenotypic inheritance in wild yeasts

(2012) Randal Halfmann et al.   NATURE

Sustained translational repression by eIF2α-P mediates prion neurodegeneration

(2012) Julie A. Moreno et al.   NATURE

TDP-43 toxicity and the usefulness of junk

(2012) Shuying Sun et al.   NATURE GENETICS

Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models

(2012) Maria Armakola et al.   NATURE GENETICS

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

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

Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade

(2012) C. E. Bulawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pathological  -Synuclein Transmission Initiates Parkinson-like Neurodegeneration in Nontransgenic Mice

(2012) K. C. Luk et al.   SCIENCE

The self-interaction of native TDP-43 C terminus inhibits its degradation and contributes to early proteinopathies

(2012) I.-Fan Wang et al.   Nature Communications

Small Heat Shock Proteins Potentiate Amyloid Dissolution by Protein Disaggregases from Yeast and Humans

(2012) Martin L. Duennwald et al.   PLOS BIOLOGY

Cognitive Decline Typical of Frontotemporal Lobar Degeneration in Transgenic Mice Expressing the 25-kDa C-Terminal Fragment of TDP-43

(2011) Antonella Caccamo et al.   AMERICAN JOURNAL OF PATHOLOGY

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

(2011) Manuela Neumann et al.   BRAIN

FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis

(2011) Ian R.A. Mackenzie et al.   BRAIN RESEARCH

The Seeds of Neurodegeneration: Prion-like Spreading in ALS

(2011) Magdalini Polymenidou et al.   CELL

Delineation of the Core Aggregation Sequences of TDP-43 C-Terminal Fragment

(2011) Akash Saini et al.   CHEMBIOCHEM

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond

(2011) Sandrine Da Cruz et al.   CURRENT OPINION IN NEUROBIOLOGY

TDP-43 neurotoxicity and protein aggregation modulated by heat shock factor and insulin/IGF-1 signaling

(2011) Tao Zhang et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients

(2011) T. Lee et al.   HUMAN MOLECULAR GENETICS

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

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1

(2011) Karli K. McDonald et al.   HUMAN MOLECULAR GENETICS

TDP-43 Is a Transcriptional Repressor

(2011) Avin S. Lalmansingh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

A “Two-hit” Hypothesis for Inclusion Formation by Carboxyl-terminal Fragments of TDP-43 Protein Linked to RNA Depletion and Impaired Microtubule-dependent Transport

(2011) G. Scott Pesiridis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dysregulation of the ALS-associated gene TDP-43 leads to neuronal death and degeneration in mice

(2011) Lionel M. Igaz et al.   JOURNAL OF CLINICAL INVESTIGATION

Model Organisms Reveal Insight into Human Neurodegenerative Disease: Ataxin-2 Intermediate-Length Polyglutamine Expansions Are a Risk Factor for ALS

(2011) Nancy M. Bonini et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Local RNA Translation at the Synapse and in Disease

(2011) L. Liu-Yesucevitz et al.   JOURNAL OF NEUROSCIENCE

Emerging targets and treatments in amyotrophic lateral sclerosis

(2011) Lorne Zinman et al.   LANCET NEUROLOGY

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

(2011) Han-Xiang Deng et al.   NATURE

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

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

An ALS-associated mutation affecting TDP-43 enhances protein aggregation, fibril formation and neurotoxicity

(2011) Weirui Guo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The modulation of Amyotrophic Lateral Sclerosis risk by Ataxin-2 intermediate polyglutamine expansions is a specific effect

(2011) Suzana Gispert et al.   NEUROBIOLOGY OF DISEASE

Evaluating the prevalence of polyglutamine repeat expansions in amyotrophic lateral sclerosis

(2011) T. Lee et al.   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

TDP-43 regulates global translational yield by splicing of exon junction complex component SKAR

(2011) Fabienne C. Fiesel et al.   NUCLEIC ACIDS RESEARCH

The C-Terminal TDP-43 Fragments Have a High Aggregation Propensity and Harm Neurons by a Dominant-Negative Mechanism

(2011) Chunxing Yang et al.   PLoS One

PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats

(2011) Zhenming Yu et al.   PLoS One

The Mammalian Disaggregase Machinery: Hsp110 Synergizes with Hsp70 and Hsp40 to Catalyze Protein Disaggregation and Reactivation in a Cell-Free System

(2011) James Shorter   PLoS One

RNA-binding proteins with prion-like domains in ALS and FTLD-U

(2011) Aaron D. Gitler et al.   Prion

Implications of the prion-related Q/N domains in TDP-43 and FUS

(2011) Maria Udan et al.   Prion

A yeast functional screen predicts new candidate ALS disease genes

(2011) J. Couthouis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Selective Inhibition of a Regulatory Subunit of Protein Phosphatase 1 Restores Proteostasis

(2011) P. Tsaytler et al.   SCIENCE

Molecular Determinants and Genetic Modifiers of Aggregation and Toxicity for the ALS Disease Protein FUS/TLS

(2011) Zhihui Sun et al.   PLOS BIOLOGY

Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis

(2010) Brian C. Kraemer et al.   ACTA NEUROPATHOLOGICA

Interaction Between ABCB1 and Professional Exposure to Organochlorine Insecticides in Parkinson Disease

(2010) Fabien Dutheil et al.   ARCHIVES OF NEUROLOGY

Novel FUS/TLS Mutations and Pathology in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2010) Christopher Hewitt et al.   ARCHIVES OF NEUROLOGY

Aplysia CPEB Can Form Prion-like Multimers in Sensory Neurons that Contribute to Long-Term Facilitation

(2010) Kausik Si et al.   CELL

RNA granules: The good, the bad and the ugly

(2010) María Gabriela Thomas et al.   CELLULAR SIGNALLING

TDP-43 regulates its mRNA levels through a negative feedback loop

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Neurotoxic effects of TDP-43 overexpression in C. elegans

(2010) Peter E.A. Ash et al.   HUMAN MOLECULAR GENETICS

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

Ubiquilin Modifies TDP-43 Toxicity in a Drosophila Model of Amyotrophic Lateral Sclerosis (ALS)

(2010) Keith A. Hanson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Interaction with Polyglutamine Aggregates Reveals a Q/N-rich Domain in TDP-43

(2010) Rodrigo A. Fuentealba et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of Neuronal RNA Targets of TDP-43-containing Ribonucleoprotein Complexes

(2010) Chantelle F. Sephton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Amyotrophic Lateral Sclerosis-associated Proteins TDP-43 and FUS/TLS Function in a Common Biochemical Complex to Co-regulate HDAC6 mRNA

(2010) Sang Hwa Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Prion-like disorders: blurring the divide between transmissibility and infectivity

(2010) M. Cushman et al.   JOURNAL OF CELL SCIENCE

Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U

(2010) Kuen-Jer Tsai et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

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

Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral Sclerosis

(2010) S. J. Barmada et al.   JOURNAL OF NEUROSCIENCE

Wild-Type Human TDP-43 Expression Causes TDP-43 Phosphorylation, Mitochondrial Aggregation, Motor Deficits, and Early Mortality in Transgenic Mice

(2010) Y.-F. Xu et al.   JOURNAL OF NEUROSCIENCE

Induction of Amyloid Fibrils by the C-Terminal Fragments of TDP-43 in Amyotrophic Lateral Sclerosis

(2010) Allan K.-H. Chen et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Conversion of bacterially expressed recombinant prion protein

(2010) Fei Wang et al.   METHODS

Emergence and natural selection of drug-resistant prions

(2010) James Shorter   Molecular BioSystems

Fusgene mutations in familial and sporadic amyotrophic lateral sclerosis

(2010) Rosa Rademakers et al.   MUSCLE & NERVE

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

(2010) Andrew C. Elden et al.   NATURE

TAR DNA-binding protein 43 in neurodegenerative disease

(2010) Alice S. Chen-Plotkin et al.   Nature Reviews Neurology

Capturing VCP: Another Molecular Piece in the ALS Jigsaw Puzzle

(2010) Christopher E. Shaw   NEURON

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Numerous FUS-positive inclusions in an elderly woman with motor neuron disease

(2010) Yukio Fujita et al.   NEUROPATHOLOGY

TDP-43-Mediated Neuron Loss In Vivo Requires RNA-Binding Activity

(2010) Aaron Voigt et al.   PLoS One

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

(2010) Liqun Liu-Yesucevitz et al.   PLoS One

Countering amyloid polymorphism and drug resistance with minimal drug cocktails

(2010) Martin L. Duennwald et al.   Prion

ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS

(2010) S.-C. Ling et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Drosophila model for TDP-43 proteinopathy

(2010) Y. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism

(2010) P.-M. Chiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identifying the amylome, proteins capable of forming amyloid-like fibrils

(2010) Lukasz Goldschmidt et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generating a Prion with Bacterially Expressed Recombinant Prion Protein

(2010) F. Wang et al.   SCIENCE

TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

(2009) Michael A. Gitcho et al.   ACTA NEUROPATHOLOGICA

Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

(2009) Felix Geser et al.   ARCHIVES OF NEUROLOGY

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

A Systematic Survey Identifies Prions and Illuminates Sequence Features of Prionogenic Proteins

(2009) Simon Alberti et al.   CELL

TDP-43 Dimerizes in Human Cells in Culture

(2009) Yuki Shiina et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Functional Roles of Ubiquitin-Like Domain (ULD) and Ubiquitin-Binding Domain (UBD) Containing Proteins

(2009) Caroline Grabbe et al.   CHEMICAL REVIEWS

Depletion of TDP-43 affectsDrosophila motoneuronsterminal synapsis and locomotive behavior

(2009) Fabian Feiguin et al.   FEBS LETTERS

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

Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosis

(2009) G. S. Pesiridis et al.   HUMAN MOLECULAR GENETICS

Characterization of Alternative Isoforms and Inclusion Body of the TAR DNA-binding Protein-43

(2009) Yoshinori Nishimoto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 Is a Developmentally Regulated Protein Essential for Early Embryonic Development

(2009) Chantelle F. Sephton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 Is Intrinsically Aggregation-prone, and Amyotrophic Lateral Sclerosis-linked Mutations Accelerate Aggregation and Increase Toxicity

(2009) Brian S. Johnson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration

(2009) Harro Seelaar et al.   JOURNAL OF NEUROLOGY

Global Analysis of TDP-43 Interacting Proteins Reveals Strong Association with RNA Splicing and Translation Machinery

(2009) Brian D. Freibaum et al.   JOURNAL OF PROTEOME RESEARCH

A synergistic small-molecule combination directly eradicates diverse prion strain structures

(2009) Blake E Roberts et al.   Nature Chemical Biology

ALS motor phenotype heterogeneity, focality, and spread: Deconstructing motor neuron degeneration

(2009) J. M. Ravits et al.   NEUROLOGY

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

(2009) A. D'Ambrogio et al.   NUCLEIC ACIDS RESEARCH

Design and construction of diverse mammalian prion strains

(2009) D. W. Colby et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang 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

Frontotemporal dementia and amyotrophic lateral sclerosis-associated disease protein TDP-43 promotes dendritic branching

(2009) Yubing Lu et al.   Molecular Brain

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice

(2008) Isabel Lastres-Becker et al.   HUMAN MOLECULAR GENETICS

Disturbance of Nuclear and Cytoplasmic TAR DNA-binding Protein (TDP-43) Induces Disease-like Redistribution, Sequestration, and Aggregate Formation

(2008) Matthew J. Winton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

(2008) C C Weihl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Colocalization of Transactivation-Responsive DNA-Binding Protein 43 and Huntingtin in Inclusions of Huntington Disease

(2008) Claudia Schwab et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Concomitant TAR-DNA-Binding Protein 43 Pathology Is Present in Alzheimer Disease and Corticobasal Degeneration but Not in Other Tauopathies

(2008) Kunihiro Uryu et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

A yeast TDP-43 proteinopathy model: Exploring the molecular determinants of TDP-43 aggregation and cellular toxicity

(2008) B. S. Johnson 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

Stress granules: the Tao of RNA triage

(2008) Paul Anderson et al.   TRENDS IN BIOCHEMICAL SCIENCES