RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

RNA as a key factor in driving or preventing self-assembly of the TAR DNA-binding protein 43

(2019) Elsa Zacco et al.   JOURNAL OF MOLECULAR BIOLOGY

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31

(2017) Taro Ishiguro et al.   NEURON

Endocytosis regulates TDP-43 toxicity and turnover

(2017) Guangbo Liu et al.   Nature Communications

Functional and dynamic polymerization of the ALS-linked protein TDP-43 antagonizes its pathologic aggregation

(2017) Tariq Afroz et al.   Nature Communications

Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALS

(2017) Anna Maria D’Erchia et al.   Scientific Reports

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

(2016) Han-Jou Chen et al.   BRAIN

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

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

Dysregulated axonal RNA translation in amyotrophic lateral sclerosis

(2016) Kyota Yasuda et al.   Wiley Interdisciplinary Reviews-RNA

RNAseq Analyses Identify Tumor Necrosis Factor-Mediated Inflammation as a Major Abnormality in ALS Spinal Cord

(2016) David G. Brohawn et al.   PLoS One

TDP-35 sequesters TDP-43 into cytoplasmic inclusions through binding with RNA

(2015) Mei-Xia Che et al.   FEBS LETTERS

Functional complementation in Drosophila to predict the pathogenicity of TARDBP variants: evidence for a loss-of-function mechanism

(2015) Lies Vanden Broeck et al.   NEUROBIOLOGY OF AGING

TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

(2015) Emma L. Scotter et al.   Neurotherapeutics

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

(2015) J. P. Ling et al.   SCIENCE

A revision of the El Escorial criteria - 2015

(2015) Albert Ludolph et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS

(2015) Jacqueline C Mitchell et al.   Acta Neuropathologica Communications

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

(2014) Yulong Sun et al.   BIOCHEMISTRY

Experimental trials in amyotrophic lateral sclerosis: a review of recently completed, ongoing and planned trials using existing and novel drugs

(2014) Namita A Goyal et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Nuclear TDP-43 causes neuronal toxicity by escaping from the inhibitory regulation by hnRNPs

(2014) Hiroaki Suzuki et al.   HUMAN MOLECULAR GENETICS

UBE2E Ubiquitin-conjugating Enzymes and Ubiquitin Isopeptidase Y Regulate TDP-43 Protein Ubiquitination

(2014) Friederike Hans et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Disease causing mutants of TDP-43 nucleic acid binding domains are resistant to aggregation and have increased stability and half-life

(2014) J. A. Austin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

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

(2013) Yohei Iguchi et al.   BRAIN

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

(2013) Danielle C. Diaper et al.   HUMAN MOLECULAR GENETICS

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

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

Targeted high-throughput sequencing identifies a TARDBP mutation as a cause of early-onset FTD without motor neuron disease

(2013) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

Abnormal RNA structures (RNA foci) containing a penta-nucleotide repeat (UGGAA)nin the Purkinje cell nucleus is associated with spinocerebellar ataxia type 31 pathogenesis

(2013) Yusuke Niimi et al.   NEUROPATHOLOGY

Characterizing TDP-43 interaction with its RNA targets

(2013) Amit Bhardwaj et al.   NUCLEIC ACIDS RESEARCH

Inhibition of TDP-43 Aggregation by Nucleic Acid Binding

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

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

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

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

Alteration of POLDIP3 Splicing Associated with Loss of Function of TDP-43 in Tissues Affected with ALS

(2012) Atsushi Shiga 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

TDP-1/TDP-43 Regulates Stress Signaling and Age-Dependent Proteotoxicity in Caenorhabditis elegans

(2012) Alexandra Vaccaro et al.   PLoS Genetics

Valosin Containing Protein Associated Fronto-Temporal Lobar Degeneration:Clinical Presentation, Pathologic Features and Pathogenesis

(2011) C. C. Weihl   Current Alzheimer Research

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

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

Local RNA Translation at the Synapse and in Disease

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

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

Neuronal Function and Dysfunction of Drosophila dTDP

(2011) Meng-Jau Lin et al.   PLoS One

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

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

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

(2010) Agnes L. Nishimura et al.   BRAIN

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

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Nuclear factor TDP-43 can affect selected microRNA levels

(2010) Emanuele Buratti et al.   FEBS 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

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

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

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Progressive motor weakness in transgenic mice expressing human TDP-43

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

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

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

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

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

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

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

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

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

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

(2009) Patrick A. Dion et al.   NATURE REVIEWS GENETICS

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

(2009) J. van der Zee 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

Structural insights into TDP-43 in nucleic-acid binding and domain interactions

(2009) P.-H. Kuo et al.   NUCLEIC ACIDS RESEARCH

Amyotrophic lateral sclerosis

(2009) Lokesh C Wijesekera et al.   Orphanet Journal of Rare Diseases

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

(2008) Felix Geser et al.   ARCHIVES OF NEUROLOGY

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

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

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 neuropathology is similar in sporadic amyotrophic lateral sclerosis with or withoutTDP-43mutations

(2008)   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Protein Solubility and Folding Enhancement by Interaction with RNA

(2008) Seong Il Choi et al.   PLoS One

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