Protein aggregation in amyotrophic lateral sclerosis

Contribution of TARDBP to Alzheimer's Disease Genetic Etiology

(2017) Nathalie Brouwers et al.   JOURNAL OF ALZHEIMERS DISEASE

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

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

Inclusions in frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), but not FTLD with FUS proteinopathy (FTLD-FUS), have properties of amyloid

(2013) Eileen H. Bigio et al.   ACTA NEUROPATHOLOGICA

Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population

(2013) Jon Beck et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

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

(2013) Hong Joo Kim et al.   NATURE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold 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

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism

(2012) Brian A. Keller et al.   ACTA NEUROPATHOLOGICA

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

(2012) Kevin F. Bieniek et al.   ACTA NEUROPATHOLOGICA

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant

(2012) Andrew King et al.   ACTA NEUROPATHOLOGICA

Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations

(2012) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

(2012) Jacqueline C. Mitchell et al.   ACTA NEUROPATHOLOGICA

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients

(2012) Mahlon Collins 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 clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

Molecular analysis and biochemical classification of TDP-43 proteinopathy

(2012) Hiroshi Tsuji et al.   BRAIN

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

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

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

(2012) Masato Kato et al.   CELL

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

The FTD/ALS-associated RNA-binding protein TDP-43 regulates the robustness of neuronal specification through microRNA-9a in Drosophila

(2012) Z. Li et al.   HUMAN MOLECULAR GENETICS

RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations

(2012) J. G. Daigle et al.   HUMAN MOLECULAR GENETICS

Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies

(2012) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

(2012) Claudia Fallini et al.   HUMAN MOLECULAR GENETICS

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis

(2012) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

A Pan-European Study of theC9orf72Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

(2012) Julie van der Zee et al.   HUMAN MUTATION

Roles of Ataxin-2 in Pathological Cascades Mediated by TAR DNA-binding Protein 43 (TDP-43) and Fused in Sarcoma (FUS)

(2012) Yoshihiro Nihei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Motor Neuron-specific Disruption of Proteasomes, but Not Autophagy, Replicates Amyotrophic Lateral Sclerosis

(2012) Yoshitaka Tashiro et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cdc37/Hsp90 Protein Complex Disruption Triggers an Autophagic Clearance Cascade for TDP-43 Protein

(2012) Umesh K. Jinwal et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

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

Novel TARDBP mutations in Nordic ALS patients

(2012) Huei-Hsin Chiang et al.   JOURNAL OF HUMAN GENETICS

Molecular evaluation of human Ubiquilin 2 gene PXX domain in familial frontotemporal dementia patients

(2012) Isabel Hernández et al.   JOURNAL OF NEUROLOGY

Nuclear Localization of Human SOD1 and Mutant SOD1-Specific Disruption of Survival Motor Neuron Protein Complex in Transgenic Amyotrophic Lateral Sclerosis Mice

(2012) Barry Gertz 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

p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

(2012) Kunikazu Tanji et al.   JOURNAL OF NEUROSCIENCE RESEARCH

A yeast model of optineurin proteinopathy reveals a unique aggregation pattern associated with cellular toxicity

(2012) Dmitry Kryndushkin et al.   MOLECULAR MICROBIOLOGY

Motor neuron apoptosis and neuromuscular junction perturbation are prominent features in a Drosophila model of Fus-mediated ALS

(2012) Ruohan Xia et al.   Molecular Neurodegeneration

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

(2012) Christophe Verbeeck et al.   Molecular Neurodegeneration

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

(2012) Maria Armakola et al.   NATURE GENETICS

Atypical ubiquitylation — the unexplored world of polyubiquitin beyond Lys48 and Lys63 linkages

(2012) Yogesh Kulathu et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase

(2012) Manal A. Farg et al.   NEUROBIOLOGY OF AGING

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

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

Endogenous TDP-43 localized to stress granules can subsequently form protein aggregates

(2012) Sarah J. Parker et al.   NEUROCHEMISTRY INTERNATIONAL

Repeat Expansion inC9ORF72in Alzheimer's Disease

(2012) Elisa Majounie et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Aggregation and Neurotoxicity of TDP-43 and Its ALS-Associated 25 kDa Fragment Are Differentially Affected by Molecular Chaperones in Drosophila

(2012) Jenna M. Gregory et al.   PLoS One

Mutant TDP-43 and FUS Cause Age-Dependent Paralysis and Neurodegeneration in C. elegans

(2012) Alexandra Vaccaro et al.   PLoS One

Knockdown of the Drosophila Fused in Sarcoma (FUS) Homologue Causes Deficient Locomotive Behavior and Shortening of Motoneuron Terminal Branches

(2012) Hiroshi Sasayama et al.   PLoS One

Coaggregation of RNA-Binding Proteins in a Model of TDP-43 Proteinopathy with Selective RGG Motif Methylation and a Role for RRM1 Ubiquitination

(2012) Eric B. Dammer et al.   PLoS One

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability

(2012) B. Bilican et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy activators rescue and alleviate pathogenesis of a mouse model with proteinopathies of the TAR DNA-binding protein 43

(2012) I.-F. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

(2011) Tibor Hortobágyi et al.   ACTA NEUROPATHOLOGICA

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without SOD1 Mutations

(2011) Han-Xiang Deng   ARCHIVES OF NEUROLOGY

Pathological hallmarks of amyotrophic lateral sclerosis/frontotemporal lobar degeneration in transgenic mice produced with TDP-43 genomic fragments

(2011) Vivek Swarup et al.   BRAIN

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

The Seeds of Neurodegeneration: Prion-like Spreading in ALS

(2011) Magdalini Polymenidou et al.   CELL

TDP-43: the relationship between protein aggregation and neurodegeneration in amyotrophic lateral sclerosis and frontotemporal lobar degeneration

(2011) Robert H. Baloh   FEBS Journal

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

(2011) Tao Zhang et al.   HUMAN MOLECULAR GENETICS

ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism

(2011) Tetsuro Murakami et al.   HUMAN MOLECULAR GENETICS

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43

(2011) N. A. Lanson et al.   HUMAN MOLECULAR GENETICS

Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations

(2011) Miranda L. Tradewell 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

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

Polyubiquitin Binding to Optineurin Is Required for Optimal Activation of TANK-binding Kinase 1 and Production of Interferon β

(2011) Catherine E. Gleason et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The ALS-associated proteins FUS and TDP-43 function together to affect Drosophila locomotion and life span

(2011) Ji-Wu Wang et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Making Connections: Pathology and Genetics Link Amyotrophic Lateral Sclerosis with Frontotemporal Lobe Dementia

(2011) Faisal Fecto et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis

(2011) R. Del Bo et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study

(2011) Ilse Gijselinck et al.   LANCET NEUROLOGY

Expression of mutant TDP-43 induces neuronal dysfunction in transgenic mice

(2011) Ya-Fei Xu et al.   Molecular Neurodegeneration

C-Jun N-terminal kinase controls TDP-43 accumulation in stress granules induced by oxidative stress

(2011) Jodi Meyerowitz et al.   Molecular Neurodegeneration

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

Clinical diagnosis and management of amyotrophic lateral sclerosis

(2011) Orla Hardiman et al.   Nature Reviews Neurology

RNA targets of wild-type and mutant FET family proteins

(2011) Jessica I Hoell et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

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

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

Optineurin in neurodegenerative diseases

(2011) Tenshi Osawa et al.   NEUROPATHOLOGY

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

Neuronal Function and Dysfunction of Drosophila dTDP

(2011) Meng-Jau Lin et al.   PLoS One

Cytoplasmic Accumulation and Aggregation of TDP-43 upon Proteasome Inhibition in Cultured Neurons

(2011) Janet van Eersel et al.   PLoS One

Hyperphosphorylation as a Defense Mechanism to Reduce TDP-43 Aggregation

(2011) Huei-Ying Li et al.   PLoS One

The Ataxin-2 protein is required for microRNA function and synapse-specific long-term olfactory habituation

(2011) C. McCann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

On the development of markers for pathological TDP-43 in amyotrophic lateral sclerosis with and without dementia

(2011) F. Geser et al.   PROGRESS IN NEUROBIOLOGY

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

A Yeast Model of FUS/TLS-Dependent Cytotoxicity

(2011) Shulin Ju et al.   PLOS BIOLOGY

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

(2011) Zhihui Sun et al.   PLOS BIOLOGY

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis

(2011) Edor Kabashi et al.   PLoS Genetics

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

A genome-wide RNAi screen identifies genes regulating the formation of P bodies in C. elegans and their functions in NMD and RNAi

(2011) Yinyan Sun et al.   Protein & Cell

Expression of human FUS protein in Drosophila leads to progressive neurodegeneration

(2011) Yanbo Chen et al.   Protein & Cell

Amyotrophic lateral sclerosis: dash-like accumulation of phosphorylated TDP-43 in somatodendritic and axonal compartments of somatomotor neurons of the lower brainstem and spinal cord

(2010) Heiko Braak et al.   ACTA NEUROPATHOLOGICA

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

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

Amyotrophic Lateral Sclerosis–Frontotemporal Lobar Dementia in 3 Families With p.Ala382Thr TARDBP Mutations

(2010) Adriano Chiò et al.   ARCHIVES OF NEUROLOGY

FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the Netherlands

(2010) Ewout J. N. Groen et al.   ARCHIVES OF NEUROLOGY

Pathological 43-kDa Transactivation Response DNA-Binding Protein in Older Adults With and Without Severe Mental Illness

(2010) Felix Geser 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

Extensive FUS-Immunoreactive Pathology in Juvenile Amyotrophic Lateral Sclerosis with Basophilic Inclusions

(2010) Eric J. Huang et al.   BRAIN PATHOLOGY

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

Neurotoxic effects of TDP-43 overexpression in C. elegans

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

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

(2010) Daryl A. Bosco 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

The small heat shock protein B8 (HspB8) promotes autophagic removal of misfolded proteins involved in amyotrophic lateral sclerosis (ALS)

(2010) Valeria Crippa 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

Processing of Optineurin in Neuronal Cells

(2010) Xiang Shen 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

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

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2010) S. Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

Phosphorylation Promotes Neurotoxicity in a Caenorhabditis elegans Model of TDP-43 Proteinopathy

(2010) N. F. Liachko 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 Is Directed to Stress Granules by Sorbitol, a Novel Physiological Osmotic and Oxidative Stressor

(2010) C. M. Dewey et al.   MOLECULAR AND CELLULAR BIOLOGY

Phosphorylation regulates proteasomal-mediated degradation and solubility of TAR DNA binding protein-43 C-terminal fragments

(2010) Yong-Jie Zhang et al.   Molecular Neurodegeneration

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

TAR DNA-binding protein 43 in neurodegenerative disease

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

Progressive motor weakness in transgenic mice expressing human TDP-43

(2010) Nancy R. Stallings et al.   NEUROBIOLOGY OF DISEASE

Both cytoplasmic and nuclear accumulations of the protein are neurotoxic in Drosophila models of TDP-43 proteinopathies

(2010) Laetitia Miguel et al.   NEUROBIOLOGY OF DISEASE

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations

(2010) Yoshihiro Kino et al.   NUCLEIC ACIDS RESEARCH

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

(2010) Aaron Voigt 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

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

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

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice

(2010) X. Shan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

(2010) Hans Wils et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP Gene

(2010) Hongxia Zhou et al.   PLoS Genetics

Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies

(2009) Tetsuaki Arai et al.   ACTA NEUROPATHOLOGICA

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

TDP-43 Redistribution is an Early Event in Sporadic Amyotrophic Lateral Sclerosis

(2009) Maria Teresa Giordana et al.   BRAIN PATHOLOGY

Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS)

(2009) Kathryn Volkening et al.   BRAIN RESEARCH

Knockdown of transactive response DNA-binding protein (TDP-43) downregulates histone deacetylase 6

(2009) Fabienne C Fiesel et al.   EMBO JOURNAL

Depletion of TDP-43 affectsDrosophila motoneuronsterminal synapsis and locomotive behavior

(2009) Fabian Feiguin et al.   FEBS LETTERS

Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43

(2009) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

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

High frequency ofTARDBPgene mutations in Italian patients with amyotrophic lateral sclerosis

(2009) Lucia Corrado et al.   HUMAN MUTATION

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

Expression of TDP-43 C-terminal Fragmentsin VitroRecapitulates Pathological Features of TDP-43 Proteinopathies

(2009) Lionel M. Igaz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Rapamycin Rescues TDP-43 Mislocalization and the Associated Low Molecular Mass Neurofilament Instability

(2009) Antonella Caccamo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Proteolytic processing of TAR DNA binding protein-43 by caspases produces C-terminal fragments with disease defining properties independent of progranulin

(2009) Dorothee Dormann et al.   JOURNAL OF NEUROCHEMISTRY

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

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

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

(2009) Gabor G. Kovacs et al.   MOVEMENT DISORDERS

RNA granules: post-transcriptional and epigenetic modulators of gene expression

(2009) Paul Anderson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The RNA-binding protein FUS/TLS is a common aggregate-interacting protein in polyglutamine diseases

(2009) Hiroshi Doi et al.   NEUROSCIENCE RESEARCH

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

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

Characterization of Detergent-Insoluble Proteins in ALS Indicates a Causal Link between Nitrative Stress and Aggregation in Pathogenesis

(2009) Manuela Basso et al.   PLoS One

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska 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

Ultrastructural localization of TDP-43 in filamentous neuronal inclusions in various neurodegenerative diseases

(2008) Wen-Lang Lin et al.   ACTA NEUROPATHOLOGICA

Phosphorylated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2008) Masato Hasegawa et al.   ANNALS OF NEUROLOGY

Spinocerebellar ataxia 2 (SCA2)

(2008) Isabel Lastres-Becker et al.   CEREBELLUM

Phosphorylated and ubiquitinated TDP-43 pathological inclusions in ALS and FTLD-U are recapitulated in SH-SY5Y cells

(2008) Takashi Nonaka et al.   FEBS LETTERS

Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS

(2008) Yuki Inukai et al.   FEBS LETTERS

TDP-43, the signature protein of FTLD-U, is a neuronal activity-responsive factor

(2008) I.-Fan Wang et al.   JOURNAL OF NEUROCHEMISTRY

TAR-DNA Binding Protein 43 in Pick Disease

(2008) Stefanie H. Freeman et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord

(2008) Georgia Anagnostou et al.   NEUROBIOLOGY OF AGING

Bunina bodies in amyotrophic lateral sclerosis

(2008) Koichi Okamoto et al.   NEUROPATHOLOGY

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

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

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