Biological Spectrum of Amyotrophic Lateral Sclerosis Prions

Prion Properties of SOD1 in Amyotrophic Lateral Sclerosis and Potential Therapy

(2017) Caroline Sibilla et al.   Cold Spring Harbor Perspectives in Biology

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

(2016) Jie Jiang et al.   NEURON

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

Cell Biology of Prions and Prionoids: A Status Report

(2016) Adriano Aguzzi et al.   TRENDS IN CELL BIOLOGY

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

(2015) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

(2015) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72

(2015) Marka van Blitterswijk et al.   ACTA NEUROPATHOLOGICA

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

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

(2015) Amandine Molliex et al.   CELL

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation

(2015) Avinash Patel et al.   CELL

Residue-by-Residue View of In Vitro FUS Granules that Bind the C-Terminal Domain of RNA Polymerase II

(2015) Kathleen A. Burke et al.   MOLECULAR CELL

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

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

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

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

(2015) Helene Tran et al.   NEURON

Review: An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

(2015) Tammaryn Lashley et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

(2015) J. P. Ling et al.   SCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Human endogenous retrovirus-K contributes to motor neuron disease

(2015) Wenxue Li et al.   Science Translational Medicine

An acetylation switch controls TDP-43 function and aggregation propensity

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

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

(2015) Jorge Gomez-Deza 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 widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

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

Sequential distribution of pTDP-43 pathology in behavioral variant frontotemporal dementia (bvFTD)

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

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

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

Experimental transmissibility of mutant SOD1 motor neuron disease

(2014) Jacob I. Ayers et al.   ACTA NEUROPATHOLOGICA

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

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Frontotemporal dementia: a bridge between dementia and neuromuscular disease

(2014) Adeline S.L. Ng et al.   Annals of the New York Academy of Sciences

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Focality, stochasticity and neuroanatomic propagation in ALS pathogenesis

(2014) John Ravits   EXPERIMENTAL NEUROLOGY

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

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

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

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

(2014) Nael H. Alami et al.   NEURON

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

(2014) Bradley N. Smith et al.   NEURON

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

Intercellular propagated misfolding of wild-type Cu/Zn superoxide dismutase occurs via exosome-dependent and -independent mechanisms

(2014) Leslie I. Grad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

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

(2013) Timothy P. Levine et al.   BIOINFORMATICS

Canine degenerative myelopathy: Biochemical characterization of superoxide dismutase 1 in the first naturally occurring non-human amyotrophic lateral sclerosis model

(2013) Matthew J. Crisp et al.   EXPERIMENTAL NEUROLOGY

Intracellular seeded aggregation of mutant Cu,Zn-superoxide dismutase associated with amyotrophic lateral sclerosis

(2013) Yoshiaki Furukawa et al.   FEBS LETTERS

Highly Efficient Targeted Mutagenesis in Mice Using TALENs

(2013) Sudeepta Kumar Panda et al.   GENETICS

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

Intranuclear Aggregation of Mutant FUS/TLS as a Molecular Pathomechanism of Amyotrophic Lateral Sclerosis

(2013) Takao Nomura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Enhancing Mitochondrial Calcium Buffering Capacity Reduces Aggregation of Misfolded SOD1 and Motor Neuron Cell Death without Extending Survival in Mouse Models of Inherited Amyotrophic Lateral Sclerosis

(2013) P. A. Parone et al.   JOURNAL OF NEUROSCIENCE

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

(2013) Naoki Suzuki et al.   NATURE NEUROSCIENCE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Novel causal genes and disease modifiers

(2013) Rosa Rademakers et al.   Nature Reviews Neurology

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

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

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

(2013) Peter E.A. Ash et al.   NEURON

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

(2013) Shuo-Chien Ling et al.   NEURON

Predominance of spliceosomal complex formation over polyadenylation site selection in TDP-43 autoregulation

(2013) S. Bembich et al.   NUCLEIC ACIDS RESEARCH

Structural plasticity of the cellular prion protein and implications in health and disease

(2013) B. Christen 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

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

(2013) C. Lagier-Tourenne et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

RNA Seeds Higher-Order Assembly of FUS Protein

(2013) Jacob C. Schwartz et al.   Cell Reports

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

(2013) Takashi Nonaka et al.   Cell Reports

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

(2012) J. S. Snowden et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

Misregulated RNA processing in amyotrophic lateral sclerosis

(2012) Magdalini Polymenidou et al.   BRAIN RESEARCH

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

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

(2012) Tina W. Han et al.   CELL

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS

(2012) Dorothee Dormann et al.   EMBO JOURNAL

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis

(2012) K. S. Graffmo 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

Psychosis,C9ORF72and dementia with Lewy bodies: Table 1

(2012) Julie S Snowden et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

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

Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS

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

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

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

The Seeds of Neurodegeneration: Prion-like Spreading in ALS

(2011) Magdalini Polymenidou et al.   CELL

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

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

Mutant TDP-43 in motor neurons promotes the onset and progression of ALS in rats

(2011) Cao Huang et al.   JOURNAL OF CLINICAL INVESTIGATION

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

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

Clinical diagnosis and management of amyotrophic lateral sclerosis

(2011) Orla Hardiman et al.   Nature Reviews Neurology

Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain

(2011) Adam Ameur 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

Conjoint pathologic cascades mediated by ALS/FTLD-U linked RNA-binding proteins TDP-43 and FUS

(2011) D. Ito 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

An MND/ALS phenotype associated withC9orf72repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

(2011) Claire Troakes et al.   NEUROPATHOLOGY

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

Intermolecular transmission of superoxide dismutase 1 misfolding in living cells

(2011) L. I. Grad et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells

(2011) Christian Münch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 and FUS: a nuclear affair

(2011) Dorothee Dormann et al.   TRENDS IN NEUROSCIENCES

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

(2011) Zhihui Sun et al.   PLOS BIOLOGY

Roles of zinc and copper in modulating the oxidative refolding of bovine copper, zinc superoxide dismutase

(2010) H.-T. Li et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Amyotrophic lateral sclerosis is a non-amyloid disease in which extensive misfolding of SOD1 is unique to the familial form

(2010) Aaron Kerman et al.   ACTA NEUROPATHOLOGICA

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

(2010) Hazel Urwin et al.   ACTA NEUROPATHOLOGICA

Evaluation of a multifaceted intervention to limit excessive antipsychotic co-prescribing in schizophrenia out-patients

(2010) L. Baandrup et al.   ACTA PSYCHIATRICA SCANDINAVICA

Nuclear transport impairment of amyotrophic lateral sclerosis-linked mutations in FUS/TLS

(2010) Daisuke Ito et al.   ANNALS OF NEUROLOGY

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

(2010) Youhna M Ayala et al.   EMBO JOURNAL

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

(2010) Dorothee Dormann et al.   EMBO JOURNAL

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

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

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

(2010) Rodrigo A. Fuentealba 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

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

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

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

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

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

(2010) D. Baumer et al.   NEUROLOGY

Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia

(2010) J. Yan et al.   NEUROLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Superoxide Dismutase 1 and tgSOD1G93A Mouse Spinal Cord Seed Fibrils, Suggesting a Propagative Cell Death Mechanism in Amyotrophic Lateral Sclerosis

(2010) Ruth Chia et al.   PLoS One

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

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

Generating a Prion with Bacterially Expressed Recombinant Prion Protein

(2010) F. Wang et al.   SCIENCE

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

(2010) Hongxia Zhou et al.   PLoS Genetics

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation

(2009) Takahisa Tateishi et al.   ACTA NEUROPATHOLOGICA

FUS pathology in basophilic inclusion body disease

(2009) David G. Munoz et al.   ACTA NEUROPATHOLOGICA

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

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

TARDBPmutations in motoneuron disease with frontotemporal lobar degeneration

(2009) Lina Benajiba et al.   ANNALS OF NEUROLOGY

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

Sporadic ALS has compartment-specific aberrant exon splicing and altered cell–matrix adhesion biology

(2009) Stuart J. Rabin et al.   HUMAN MOLECULAR GENETICS

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease

(2009) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

Molecular Neuropathology of TDP-43 Proteinopathies

(2009) Manuela Neumann   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

Non–cell autonomous toxicity in neurodegenerative disorders: ALS and beyond

(2009) Hristelina Ilieva et al.   JOURNAL OF CELL BIOLOGY

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

(2009) L. Corrado et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis

(2009) P. Wicks et al.   JOURNAL OF NEUROLOGY

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

(2009) I. P. Blair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

No evidence for cognitive dysfunction or depression in patients with mild restless legs syndrome

(2009) Erika Driver-Dunckley et al.   MOVEMENT DISORDERS

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

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

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

(2009) N. Ticozzi et al.   NEUROLOGY

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

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

Immunohistochemical identification of messenger RNA-related proteins in basophilic inclusions of adult-onset atypical motor neuron disease

(2008) Kengo Fujita et al.   ACTA NEUROPATHOLOGICA

Enrichment of C-Terminal Fragments in TAR DNA-Binding Protein-43 Cytoplasmic Inclusions in Brain but not in Spinal Cord of Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2008) Lionel M. Igaz et al.   AMERICAN JOURNAL OF PATHOLOGY

TDP-43mutation in familial amyotrophic lateral sclerosis

(2008) Akio Yokoseki et al.   ANNALS OF NEUROLOGY

TDP-43A315T mutation in familial motor neuron disease

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

Evidence of Multisystem Disorder in Whole-Brain Map of Pathological TDP-43 in Amyotrophic Lateral Sclerosis

(2008) Felix Geser et al.   ARCHIVES OF NEUROLOGY

The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response

(2008) Mattias K Andersson et al.   BMC CELL BIOLOGY

Divergent patterns of cytosolic TDP-43 and neuronal progranulin expression following axotomy: Implications for TDP-43 in the physiological response to neuronal injury

(2008) Katie Moisse et al.   BRAIN RESEARCH

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

A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro

(2008) Matthew J. Winton 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

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

Prevalence of SOD1 mutations in the Italian ALS population

(2008) A. Chio et al.   NEUROLOGY

Selective association of misfolded ALS-linked mutant SOD1 with the cytoplasmic face of mitochondria

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

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