Connecting TDP-43 Pathology with Neuropathy

C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import

(2020) Lindsey R Hayes et al.   eLife

TDP-43 a protein central to amyotrophic lateral sclerosis is destabilized by Tankyrase-1/2

(2020) Leeanne McGurk et al.   JOURNAL OF CELL SCIENCE

C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

(2020) Aaron Burberry et al.   NATURE

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

(2020) Mercedes Prudencio et al.   JOURNAL OF CLINICAL INVESTIGATION

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

(2020) Casey N. Cook et al.   Science Translational Medicine

Cross-Comparison of Human iPSC Motor Neuron Models of Familial and Sporadic ALS Reveals Early and Convergent Transcriptomic Disease Signatures

(2020) Ritchie Ho et al.   Cell Systems

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43

(2019) Jacob R. Mann et al.   NEURON

Cytoplasmic TDP-43 De-mixing Independent of Stress Granules Drives Inhibition of Nuclear Import, Loss of Nuclear TDP-43, and Cell Death

(2019) Fatima Gasset-Rosa et al.   NEURON

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

Antisense oligonucleotide therapies for Amyotrophic Lateral Sclerosis: Existing and emerging targets

(2019) Joseph R. Klim et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

C9orf72 Poly(PR) Dipeptide Repeats Disturb Biomolecular Phase Separation and Disrupt Nucleolar Function

(2019) Michael R. White et al.   MOLECULAR CELL

Cross-Regulation between TDP-43 and Paraspeckles Promotes Pluripotency-Differentiation Transition

(2019) Miha Modic et al.   MOLECULAR CELL

An Intramolecular Salt Bridge Linking TDP43 RNA Binding, Protein Stability, and TDP43-Dependent Neurodegeneration

(2019) Brittany N. Flores et al.   Cell Reports

Small-Molecule Modulation of TDP-43 Recruitment to Stress Granules Prevents Persistent TDP-43 Accumulation in ALS/FTD

(2019) Mark Y. Fang et al.   NEURON

The Role of TDP-43 in Military-Relevant TBI and Chronic Neurodegeneration

(2019) Lanier Heyburn et al.   Frontiers in Neurology

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

(2019) Sali M. K. Farhan et al.   NATURE NEUROSCIENCE

The landscape of multiscale transcriptomic networks and key regulators in Parkinson’s disease

(2019) Qian Wang et al.   Nature Communications

Shortened TDP43 isoforms upregulated by neuronal hyperactivity drive TDP43 pathology in ALS

(2019) Kaitlin Weskamp et al.   JOURNAL OF CLINICAL INVESTIGATION

Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

(2018) Pietro Fratta et al.   EMBO JOURNAL

TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD

(2018) Matthew A. White et al.   NATURE NEUROSCIENCE

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

(2018) Ching-Chieh Chou et al.   NATURE NEUROSCIENCE

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

(2018) Daniel A. Mordes et al.   Acta Neuropathologica Communications

Distinct multilevel misregulations of Parkin and PINK1 revealed in cell and animal models of TDP-43 proteinopathy

(2018) Xing Sun et al.   Cell Death & Disease

Progranulin reduces insoluble TDP-43 levels, slows down axonal degeneration and prolongs survival in mutant TDP-43 mice

(2018) Sander Beel et al.   Molecular Neurodegeneration

CSF Neurofilament Light Chain Levels in Primary Progressive MS: Signs of Axonal Neurodegeneration

(2018) Marc Pawlitzki et al.   Frontiers in Neurology

Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective

(2017) Margarida Gama-Carvalho et al.   JOURNAL OF NEUROCHEMISTRY

Comparison of elevated phosphorylated neurofilament heavy chains in serum and cerebrospinal fluid of patients with amyotrophic lateral sclerosis

(2017) Maxim De Schaepdryver et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Urinary p75 ECD

(2017) Stephanie R. Shepheard et al.   NEUROLOGY

Toxic PRnpoly-dipeptides encoded by theC9orf72repeat expansion block nuclear import and export

(2017) Kevin Y. Shi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

High-Resolution RNA Maps Suggest Common Principles of Splicing and Polyadenylation Regulation by TDP-43

(2017) Gregor Rot et al.   Cell Reports

Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy

(2017) Leslie A. Nash et al.   Scientific Reports

Exosome secretion is a key pathway for clearance of pathological TDP-43

(2016) Yohei Iguchi et al.   BRAIN

Stathmin 1/2-triggered microtubule loss mediates Golgi fragmentation in mutant SOD1 motor neurons

(2016) Sarah Bellouze et al.   Molecular Neurodegeneration

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Structural analysis of disease-related TDP-43 D169G mutation: linking enhanced stability and caspase cleavage efficiency to protein accumulation

(2016) Chien-Hao Chiang et al.   Scientific Reports

Label-Free LC–MS/MS Proteomic Analysis of Cerebrospinal Fluid Identifies Protein/Pathway Alterations and Candidate Biomarkers for Amyotrophic Lateral Sclerosis

(2015) Mahlon A. Collins et al.   JOURNAL OF PROTEOME RESEARCH

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Neuronal stathmins: A family of phosphoproteins cooperating for neuronal development, plasticity and regeneration

(2015) Stéphanie Chauvin et al.   PROGRESS IN NEUROBIOLOGY

Loss of motoneuron-specific microRNA-218 causes systemic neuromuscular failure

(2015) N. D. Amin et al.   SCIENCE

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

A novel mutation P112H in the TARDBP gene associated with frontotemporal lobar degeneration without motor neuron disease and abundant neuritic amyloid plaques

(2015) Fermin Moreno et al.   Acta Neuropathologica Communications

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

(2014) Evangelos Kiskinis et al.   Cell Stem Cell

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

Direct Binding of Ataxin-2 to Distinct Elements in 3′ UTRs Promotes mRNA Stability and Protein Expression

(2014) Moe Yokoshi et al.   MOLECULAR CELL

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

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

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

(2014) Nael H. Alami et al.   NEURON

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

Partial loss of TDP-43 function causes phenotypes of amyotrophic lateral sclerosis

(2014) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Differential motor neuron involvement in progressive muscular atrophy: a comparative study with amyotrophic lateral sclerosis

(2014) Yuichi Riku et al.   BMJ Open

Intrinsic Membrane Hyperexcitability of Amyotrophic Lateral Sclerosis Patient-Derived Motor Neurons

(2014) Brian J. Wainger et al.   Cell Reports

Track data hubs enable visualization of user-defined genome-wide annotations on the UCSC Genome Browser

(2013) B. J. Raney et al.   BIOINFORMATICS

Dynamic regulation of SCG10 in regenerating axons after injury

(2013) Jung Eun Shin et al.   EXPERIMENTAL NEUROLOGY

RNA binding mediates neurotoxicity in the transgenic Drosophila model of TDP-43 proteinopathy

(2013) Ryoko Ihara et al.   HUMAN MOLECULAR GENETICS

SCG10 promotes non-amyloidogenic processing of amyloid precursor protein by facilitating its trafficking to the cell surface

(2013) Jingjing Wang et al.   HUMAN MOLECULAR GENETICS

The Microtubule Regulatory Protein Stathmin Is Required to Maintain the Integrity of Axonal Microtubules in Drosophila

(2013) Jason E. Duncan et al.   PLoS One

Systemic dysregulation of TDP-43 binding microRNAs in amyotrophic lateral sclerosis

(2013) Axel Freischmidt et al.   Acta Neuropathologica Communications

A quantitative atlas of polyadenylation in five mammals

(2012) Adnan Derti et al.   GENOME RESEARCH

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

Accelerated Disease Onset with Stabilized Familial Amyotrophic Lateral Sclerosis (ALS)-linked Mutant TDP-43 Proteins

(2012) Shoji Watanabe et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2012) Maria Armakola et al.   NATURE GENETICS

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

SCG10 is a JNK target in the axonal degeneration pathway

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

Genetic Correction of Human Induced Pluripotent Stem Cells from Patients with Spinal Muscular Atrophy

(2012) S. Corti et al.   Science Translational Medicine

Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain

(2012) Ramesh K. Narayanan et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Association of Long ATXN2 CAG Repeat Sizes With Increased Risk of Amyotrophic Lateral Sclerosis

(2011) Hussein Daoud et al.   ARCHIVES OF NEUROLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB–mediated pathogenic pathways

(2011) Vivek Swarup et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Stathmin is Required for Stability of the Drosophila Neuromuscular Junction

(2011) E. R. Graf et al.   JOURNAL OF NEUROSCIENCE

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

Primary lateral sclerosis: Upper-motor-predominant amyotrophic lateral sclerosis with frontotemporal lobar degeneration - immunohistochemical and biochemical analyses of TDP-43

(2011) Takayuki Kosaka et al.   NEUROPATHOLOGY

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

(2011) Janet van Eersel et al.   PLoS One

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

RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond

(2011) Keith A. Hanson et al.   Wiley Interdisciplinary Reviews-RNA

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

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

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

(2010) Youhna M Ayala et al.   EMBO JOURNAL

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

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

(2010) Andrew C. Elden et al.   NATURE

Analysis of OPTN as a causative gene for amyotrophic lateral sclerosis

(2010) Véronique V. Belzil et al.   NEUROBIOLOGY OF AGING

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

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

(2010) Aaron Voigt 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

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

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

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

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

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

Cytosolic TDP-43 expression following axotomy is associated with caspase 3 activation in NFL −/− mice: Support for a role for TDP-43 in the physiological response to neuronal injury

(2009) Katie Moisse et al.   BRAIN RESEARCH

Axonal ligation induces transient redistribution of TDP-43 in brainstem motor neurons

(2009) T. Sato et al.   NEUROSCIENCE

Bortezomib-induced peripheral neuropathy in multiple myeloma: a comprehensive review of the literature

(2008) A. A. Argyriou et al.   BLOOD

Variations in the progranulin gene affect global gene expression in frontotemporal lobar degeneration

(2008) Alice S. Chen-Plotkin et al.   HUMAN MOLECULAR GENETICS

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

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

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

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

(2008) Edor Kabashi et al.   NATURE GENETICS

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE