TDP-43 pathology: From noxious assembly to therapeutic removal

Ubiquitin signalling in neurodegeneration: mechanisms and therapeutic opportunities

(2021) Marlene F. Schmidt et al.   CELL DEATH AND DIFFERENTIATION

Induction of autophagy mitigates TDP-43 pathology and translational repression of neurofilament mRNAs in mouse models of ALS/FTD

(2021) Sunny Kumar et al.   Molecular Neurodegeneration

TDP-43 aggregation induced by oxidative stress causes global mitochondrial imbalance in ALS

(2021) Xinxin Zuo et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Genetic analysis of amyotrophic lateral sclerosis identifies contributing pathways and cell types

(2021) Sara Saez-Atienzar et al.   Science Advances

HDAC6 inhibition restores TDP‐43 pathology and axonal transport defects in human motor neurons with TARDBP mutations

(2021) Raheem Fazal et al.   EMBO JOURNAL

Systematically defining selective autophagy receptor-specific cargo using autophagosome content profiling

(2021) Susanne Zellner et al.   MOLECULAR CELL

Variant-selective stereopure oligonucleotides protect against pathologies associated with C9orf72-repeat expansion in preclinical models

(2021) Yuanjing Liu et al.   Nature Communications

TDP-43 interacts with pathological τ protein in Alzheimer’s disease

(2021) Sandra O. Tomé et al.   ACTA NEUROPATHOLOGICA

Is PROTAC technology really a game changer for central nervous system drug discovery?

(2021) Kayla Farrell et al.   Expert Opinion on Drug Discovery

Hsp90 and its co‐chaperone Sti1 control TDP‐43 misfolding and toxicity

(2021) Lilian Tsai‐Wei Lin et al.   FASEB JOURNAL

Molecular Mechanisms Underlying TDP-43 Pathology in Cellular and Animal Models of ALS and FTLD

(2021) Alistair Wood et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Distinct Brain‐derived TDP‐43 Strains from FTLD‐TDP Subtypes Induce Diverse Morphological TDP‐43 Aggregates and Spreading Patterns in vitro and in vivo .

(2021) Sílvia Porta et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Liquid–Liquid Phase Separation Enhances TDP-43 LCD Aggregation but Delays Seeded Aggregation

(2021) Donya Pakravan et al.   Biomolecules

The E50K optineurin mutation impacts autophagy-mediated degradation of TDP-43 and leads to RGC apoptosis in vivo and in vitro

(2021) Shiqi Zhang et al.   Cell Death Discovery

TMEM106B modifies TDP-43 pathology in human ALS brain and cell-based models of TDP-43 proteinopathy

(2021) Fei Mao et al.   ACTA NEUROPATHOLOGICA

TDP-43 condensation properties specify its RNA-binding and regulatory repertoire

(2021) Martina Hallegger et al.   CELL

Hsp70 chaperones TDP-43 in dynamic, liquid-like phase and prevents it from amyloid aggregation

(2021) Jinge Gu et al.   CELL RESEARCH

Cytoplasmic TDP-43 is involved in cell fate during stress recovery

(2021) Youn-Bok Lee et al.   HUMAN MOLECULAR GENETICS

Development of a specific live-cell assay for native autophagic flux

(2021) Nathaniel Safren et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Translational regulation in the brain by TDP-43 phase separation

(2021) Ju Gao et al.   JOURNAL OF CELL BIOLOGY

Fast Progression in Amyotrophic Lateral Sclerosis Is Associated With Greater TDP-43 Burden in Spinal Cord

(2021) Sahara J Cathcart et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Stimulation of mTOR-independent autophagy and mitophagy by rilmenidine exacerbates the phenotype of transgenic TDP-43 mice

(2021) Nirma D. Perera et al.   NEUROBIOLOGY OF DISEASE

p62 overexpression induces TDP-43 cytoplasmic mislocalisation, aggregation and cleavage and neuronal death

(2021) A. D. Foster et al.   Scientific Reports

Neuronal VCP loss of function recapitulates FTLD-TDP pathology

(2021) Abubakar Wani et al.   Cell Reports

Regulation of TDP-43 phosphorylation in aging and disease

(2021) Randall J. Eck et al.   GeroScience

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

(2021) Wouter van Rheenen et al.   NATURE GENETICS

ALS-causing D169G mutation disrupts the ATP-binding capacity of TDP-43 RRM1 domain

(2020) Mei Dang et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

TDP-43 α-helical structure tunes liquid–liquid phase separation and function

(2020) Alexander E. Conicella et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Optogenetic modulation of TDP-43 oligomerization accelerates ALS-related pathologies in the spinal motor neurons

(2020) Kazuhide Asakawa et al.   Nature Communications

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

(2020) Lindsey R Hayes et al.   eLife

Chaperone Mediated Autophagy Degrades TDP-43 Protein and Is Affected by TDP-43 Aggregation

(2020) Fernando Ormeño et al.   Frontiers in Molecular Neuroscience

DNA damage accumulates and responses are engaged in human ALS brain and spinal motor neurons and DNA repair is activatable in iPSC-derived motor neurons with SOD1 mutations

(2020) Byung Woo Kim et al.   Acta Neuropathologica Communications

A robust TDP-43 knock-in mouse model of ALS

(2020) Shih-Ling Huang et al.   Acta Neuropathologica Communications

Promiscuous Roles of Autophagy and Proteasome in Neurodegenerative Proteinopathies

(2020) Fiona Limanaqi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Progression of cognitive and behavioural impairment in early amyotrophic lateral sclerosis

(2020) Emma Beeldman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mitigation of ALS pathology by neuron-specific inhibition of nuclear factor kappa B signaling

(2020) Kallol Dutta et al.   JOURNAL OF NEUROSCIENCE

Proteome Homeostasis Dysfunction: A Unifying Principle in ALS Pathogenesis

(2020) Justin J. Yerbury et al.   TRENDS IN NEUROSCIENCES

The FTLD Risk Factor TMEM106B Regulates the Transport of Lysosomes at the Axon Initial Segment of Motoneurons

(2020) Patrick Lüningschrör et al.   Cell Reports

Distinct molecular patterns of TDP-43 pathology in Alzheimer’s disease: relationship with clinical phenotypes

(2020) Sandra O. Tomé et al.   Acta Neuropathologica Communications

Antibody against TDP-43 phosphorylated at serine 375 suggests conformational differences of TDP-43 aggregates among FTLD–TDP subtypes

(2020) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

Loss of TMEM 106B and PGRN leads to severe lysosomal abnormalities and neurodegeneration in mice

(2020) Tuancheng Feng et al.   EMBO REPORTS

Stress Induces Dynamic, Cytotoxicity-Antagonizing TDP-43 Nuclear Bodies via Paraspeckle LncRNA NEAT1-Mediated Liquid-Liquid Phase Separation

(2020) Chen Wang et al.   MOLECULAR CELL

G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

(2020) Alyssa N. Coyne et al.   NEURON

Praja1 RING ‐finger E3 ubiquitin ligase suppresses neuronal cytoplasmic TDP ‐43 aggregate formation

(2020) Kazuhiko Watabe et al.   NEUROPATHOLOGY

Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2020) Timothy Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

(2020) Josephine J. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TECPR1 promotes aggrephagy by direct recruitment of LC3C autophagosomes to lysosomes

(2020) Lisa Wetzel et al.   Nature Communications

Limbic-predominant age-related TDP-43 encephalopathy differs from frontotemporal lobar degeneration

(2020) John L Robinson et al.   BRAIN

TDP-43 Triggers Mitochondrial DNA Release via mPTP to Activate cGAS/STING in ALS

(2020) Chien-Hsiung Yu et al.   CELL

Loss of TMEM 106B potentiates lysosomal and FTLD ‐like pathology in progranulin‐deficient mice

(2020) Georg Werner et al.   EMBO REPORTS

The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies

(2020) Myungjin Jo et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

Insight into the Folding and Dimerization Mechanisms of the N-Terminal Domain from Human TDP-43

(2020) Mirella Vivoli-Vega et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Amyotrophic lateral sclerosis associated mislocalisation of TDP‐43 to the cytoplasm causes cortical hyperexcitability and reduced excitatory neurotransmission in the motor cortex

(2020) MS. Dyer et al.   JOURNAL OF NEUROCHEMISTRY

Long‐Term Survival of Participants in the CENTAUR Trial of Sodium Phenylbutyrate‐Taurursodiol in ALS

(2020) Sabrina Paganoni et al.   MUSCLE & NERVE

Neurotoxic microglia promote TDP-43 proteinopathy in progranulin deficiency

(2020) Jiasheng Zhang et al.   NATURE

Modeling UBQLN2-mediated neurodegenerative disease in mice: Shared and divergent properties of wild type and mutant UBQLN2 in phase separation, subcellular localization, altered proteostasis pathways, and selective cytotoxicity

(2020) Lisa M. Sharkey et al.   NEUROBIOLOGY OF DISEASE

ALS Genetics: Gains, Losses, and Implications for Future Therapies

(2020) Garam Kim et al.   NEURON

Trial of Sodium Phenylbutyrate–Taurursodiol for Amyotrophic Lateral Sclerosis

(2020) Sabrina Paganoni et al.   NEW ENGLAND JOURNAL OF MEDICINE

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

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

Aggresome formation and liquid–liquid phase separation independently induce cytoplasmic aggregation of TAR DNA-binding protein 43

(2020) Seiji Watanabe et al.   Cell Death & Disease

Monoclonal full-length antibody against TAR DNA-binding protein 43 reduces related proteinopathy in neurons

(2020) Silvia Pozzi et al.   JCI Insight

Ubiquitin homeostasis is disrupted in TDP-43 and FUS cell models of ALS

(2020) Natalie E. Farrawell et al.   iScience

Targeting of misfolded, pathogenic TDP‐43 with rationally designed antibodies

(2020) Neil R. Cashman et al.   Alzheimers & Dementia

Detection and Quantification of Novel C‐terminal TDP‐43 Fragments in ALS‐TDP

(2020) Emily Feneberg et al.   BRAIN PATHOLOGY

Optineurin defects cause TDP43-pathology with autophagic vacuolar formation

(2020) Takashi Kurashige et al.   NEUROBIOLOGY OF DISEASE

Optogenetic TDP-43 nucleation induces persistent insoluble species and progressive motor dysfunction in vivo

(2020) Charlton G. Otte et al.   NEUROBIOLOGY OF DISEASE

TDP-43 and Tau Oligomers in Alzheimer's Disease, Amyotrophic Lateral Sclerosis, and Frontotemporal Dementia

(2020) Mauro Montalbano et al.   NEUROBIOLOGY OF DISEASE

Cytoplasmic Expression of the ALS/FTD-Related Protein TDP-43 Decreases Global Translation Both in vitro and in vivo

(2020) Santiago E. Charif et al.   Frontiers in Cellular Neuroscience

TDP-43 interacts with amyloid-β, inhibits fibrillization, and worsens pathology in a model of Alzheimer’s disease

(2020) Yao-Hsiang Shih et al.   Nature Communications

Cytosolic calcium regulates cytoplasmic accumulation of TDP-43 through Calpain-A and Importin α3

(2020) Jeong Hyang Park et al.   eLife

Therapeutic genetic variation revealed in diverse Hsp104 homologs

(2020) Zachary M March et al.   eLife

The Role of HDAC6 in TDP-43-Induced Neurotoxicity and UPS Impairment

(2020) Shinrye Lee et al.   Frontiers in Cell and Developmental Biology

Antisense RNA foci are associated with nucleoli and TDP-43 mislocalization in C9orf72-ALS/FTD: a quantitative study

(2019) Olubankole Aladesuyi Arogundade et al.   ACTA NEUROPATHOLOGICA

Aggregation of the nucleic acid–binding protein TDP-43 occurs via distinct routes that are coordinated with stress granule formation

(2019) Youjun Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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 Dysregulation in Amyotrophic Lateral Sclerosis

(2019) Zoe Butti et al.   Frontiers in Genetics

The Roles of Ubiquitin-Binding Protein Shuttles in the Degradative Fate of Ubiquitinated Proteins in the Ubiquitin-Proteasome System and Autophagy

(2019) Katarzyna Zientara-Rytter et al.   Cells

Transcriptomopathies of pre- and post-symptomatic frontotemporal dementia-like mice with TDP-43 depletion in forebrain neurons

(2019) Lien-Szu Wu et al.   Acta Neuropathologica Communications

Motor neuron disease-associated loss of nuclear TDP-43 is linked to DNA double-strand break repair defects

(2019) Joy Mitra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

(2019) Jeannie Chew et al.   Molecular Neurodegeneration

Genetic Regulation of Neuronal Progranulin Reveals a Critical Role for the Autophagy-Lysosome Pathway

(2019) Lisa P. Elia et al.   JOURNAL OF NEUROSCIENCE

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

Virus-mediated delivery of antibody targeting TAR DNA-binding protein-43 mitigates associated neuropathology

(2019) Silvia Pozzi et al.   JOURNAL OF CLINICAL INVESTIGATION

Detection of TAR DNA-binding protein 43 (TDP-43) oligomers as initial intermediate species during aggregate formation

(2019) Rachel L. French et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The role of liquid-liquid phase separation in aggregation of the TDP-43 low complexity domain

(2019) W. Michael Babinchak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The ALS-FTD-linked gene product, C9orf72, regulates neuronal morphogenesis via autophagy

(2019) Wan Yun Ho et al.   Autophagy

Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report

(2019) Peter T Nelson et al.   BRAIN

Amyotrophic lateral sclerosis-associated TDP-43 mutation Q331K prevents nuclear translocation of XRCC4-DNA ligase 4 complex and is linked to genome damage-mediated neuronal apoptosis

(2019) Erika N Guerrero et al.   HUMAN MOLECULAR GENETICS

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

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

The Autophagy Lysosomal Pathway and Neurodegeneration

(2019) Steven Finkbeiner   Cold Spring Harbor Perspectives in Biology

Loss of Nuclear TDP-43 Is Associated with Decondensation of LINE Retrotransposons

(2019) Elaine Y. Liu et al.   Cell Reports

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

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

Chronic optogenetic induction of stress granules is cytotoxic and reveals the evolution of ALS-FTD pathology

(2019) Peipei Zhang et al.   eLife

The Pathobiology of TDP-43 C-Terminal Fragments in ALS and FTLD

(2019) Britt A. Berning et al.   Frontiers in Neuroscience

Partial Failure of Proteostasis Systems Counteracting TDP-43 Aggregates in Neurodegenerative Diseases

(2019) Roberta Cascella et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Cyclic AMP-Dependent Protein Kinase Phosphorylates TDP-43 and Modulates Its Function in Tau mRNA Processing

(2019) Jianlan Gu et al.   JOURNAL OF ALZHEIMERS DISEASE

UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis

(2019) Baiyuan Yang et al.   NEUROLOGICAL SCIENCES

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 basis of clinicopathological heterogeneity in TDP-43 proteinopathy

(2019) Ito Kawakami et al.   ACTA NEUROPATHOLOGICA

Cognitive impairment across ALS clinical stages in a population-based cohort

(2019) Adriano Chiò et al.   NEUROLOGY

Mining Disaggregase Sequence Space to Safely Counter TDP-43, FUS, and α-Synuclein Proteotoxicity

(2019) Amber Tariq et al.   Cell Reports

The Emerging Roles of mTORC1 in Macromanaging Autophagy

(2019) Akpedje S. Dossou et al.   Cancers

Proteasome Inhibition Activates Autophagy-Lysosome Pathway Associated With TFEB Dephosphorylation and Nuclear Translocation

(2019) Chunyan Li et al.   Frontiers in Cell and Developmental Biology

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

(2019) Han-Jou Chen et al.   BRAIN

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

Neuronal TDP-43 depletion affects activity-dependent plasticity

(2019) Paulina Koza et al.   NEUROBIOLOGY OF DISEASE

Proteostasis collapse is a driver of cell aging and death

(2019) Mantu Santra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cellular quality control by the ubiquitin-proteasome system and autophagy

(2019) Christian Pohl et al.   SCIENCE

Artificial tethering of LC3 or p62 to organelles is not sufficient to trigger autophagy

(2019) Friedemann Loos et al.   Cell Death & Disease

Phase separation-deficient TDP43 remains functional in splicing

(2019) Hermann Broder Schmidt et al.   Nature Communications

HSC70 expression is reduced in lymphomonocytes of sporadic ALS patients and contributes to TDP-43 accumulation

(2019) Alessandro Arosio et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Prion-Like Propagation of Protein Misfolding and Aggregation in Amyotrophic Lateral Sclerosis

(2019) Luke McAlary et al.   Frontiers in Molecular Neuroscience

Structural dissection of amyloid aggregates of TDP‐43 and its C‐terminal fragments TDP‐35 and TDP‐16

(2019) Jayakrishna Shenoy et al.   FEBS Journal

Changes to the TDP-43 and FUS Interactomes Induced by DNA Damage

(2019) Tetsuya Kawaguchi et al.   JOURNAL OF PROTEOME RESEARCH

TDP-43 aggregation inside micronuclei reveals a potential mechanism for protein inclusion formation in ALS

(2019) Cristian A. Droppelmann et al.   Scientific Reports

Induced pluripotent stem cell–based Drug Repurposing for Amyotrophic lateral sclerosis Medicine (iDReAM) study: protocol for a phase I dose escalation study of bosutinib for amyotrophic lateral sclerosis patients

(2019) Keiko Imamura et al.   BMJ Open

Structural Insights Into TDP-43 and Effects of Post-translational Modifications

(2019) Liberty François-Moutal et al.   Frontiers in Molecular Neuroscience

CRYPTIC EXON SPLICING FUNCTION OF TARDBP INTERACTS WITH AUTOPHAGY IN NERVOUS TISSUE

(2018) Pascual Torres et al.   Autophagy

Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo

(2018) Monika Kustermann et al.   Autophagy

The physical forces mediating self-association and phase-separation in the C-terminal domain of TDP-43

(2018) Hao-Ru Li et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

A single N‐terminal phosphomimic disrupts TDP‐43 polymerization, phase separation, and RNA splicing

(2018) Ailin Wang et al.   EMBO JOURNAL

Tau protein liquid–liquid phase separation can initiate tau aggregation

(2018) Susanne Wegmann et al.   EMBO JOURNAL

TDP-43 post-translational modifications in health and disease

(2018) Emanuele Buratti   EXPERT OPINION ON THERAPEUTIC TARGETS

TDP-43 controls lysosomal pathways thereby determining its own clearance and cytotoxicity

(2018) Christine Leibiger et al.   HUMAN MOLECULAR GENETICS

TAR DNA-binding protein 43 (TDP-43) liquid–liquid phase separation is mediated by just a few aromatic residues

(2018) Hao-Ru Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rapamycin treatment for amyotrophic lateral sclerosis

(2018) Jessica Mandrioli et al.   MEDICINE

Pathological phosphorylation of tau and TDP-43 by TTBK1 and TTBK2 drives neurodegeneration

(2018) Laura M. Taylor et al.   Molecular Neurodegeneration

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

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

The coming of age of chaperone-mediated autophagy

(2018) Susmita Kaushik et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Atomic structures of TDP-43 LCD segments and insights into reversible or pathogenic aggregation

(2018) Elizabeth L. Guenther et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Randomized, double-blind, placebo-controlled trial of arimoclomol in rapidly progressiveSOD1ALS

(2018) Michael Benatar et al.   NEUROLOGY

RNA buffers the phase separation behavior of prion-like RNA binding proteins

(2018) Shovamayee Maharana et al.   SCIENCE

Protein Phase Separation: A New Phase in Cell Biology

(2018) Steven Boeynaems et al.   TRENDS IN CELL BIOLOGY

Abnormal RNA stability in amyotrophic lateral sclerosis

(2018) E. M. Tank et al.   Nature Communications

Atomic structures of TDP-43 LCD segments and insights into reversible or pathogenic aggregation

(2018) Elizabeth L. Guenther et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Elimination of TDP-43 inclusions linked to amyotrophic lateral sclerosis by a misfolding-specific intrabody with dual proteolytic signals

(2018) Yoshitaka Tamaki et al.   Scientific Reports

Active nuclear import and passive nuclear export are the primary determinants of TDP-43 localization

(2018) Emile S. Pinarbasi et al.   Scientific Reports

Nuclear egress of TDP-43 and FUS occurs independently of Exportin-1/CRM1

(2018) Helena Ederle et al.   Scientific Reports

TDP43 nuclear export and neurodegeneration in models of amyotrophic lateral sclerosis and frontotemporal dementia

(2018) Hilary C. Archbold et al.   Scientific Reports

Characterization of the Partially Folded States of TDP-43 RRM2 and Their Significance to ALS Pathogenesis

(2018) Davide Tavella et al.   BIOPHYSICAL JOURNAL

Molecular chaperone HSP70 prevents formation of inclusion bodies of the 25-kDa C-terminal fragment of TDP-43 by preventing aggregate accumulation

(2018) Akira Kitamura et al.   CELL STRESS & CHAPERONES

Poly(ADP-Ribose) Prevents Pathological Phase Separation of TDP-43 by Promoting Liquid Demixing and Stress Granule Localization

(2018) Leeanne McGurk et al.   MOLECULAR CELL

Protein misfolding, aggregation, and conformational strains in neurodegenerative diseases

(2018) Claudio Soto et al.   NATURE NEUROSCIENCE

Promoting the clearance of neurotoxic proteins in neurodegenerative disorders of ageing

(2018) Barry Boland et al.   NATURE REVIEWS DRUG DISCOVERY

Tdp-25 Routing to Autophagy and Proteasome Ameliorates its Aggregation in Amyotrophic Lateral Sclerosis Target Cells

(2018) Maria Elena Cicardi et al.   Scientific Reports

Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology

(2018) Alissa L. Nana et al.   ACTA NEUROPATHOLOGICA

Neuronal Expression of UBQLN2P497H Exacerbates TDP-43 Pathology in TDP-43G348C Mice through Interaction with Ubiquitin

(2018) Vincent Picher-Martel et al.   MOLECULAR NEUROBIOLOGY

TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates

(2018) Florent Laferrière et al.   NATURE NEUROSCIENCE

Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction

(2018) David Gordon et al.   NEUROBIOLOGY OF DISEASE

Rapidly progressive amyotrophic lateral sclerosis is associated with microglial reactivity and small heat shock protein expression in reactive astrocytes

(2018) R. P. Gorter et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly

(2018) Lisa M. Sharkey et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo

(2018) Sílvia Porta et al.   Nature Communications

Phosphorylated TDP-43 Staging of Primary Age-Related Tauopathy

(2018) Xiaoling Zhang et al.   Neuroscience Bulletin

The RNA-Recognition Motifs of TAR DNA-Binding Protein 43 May Play a Role in the Aberrant Self-Assembly of the Protein

(2018) Elsa Zacco et al.   Frontiers in Molecular Neuroscience

Quantitative assessment of the degradation of aggregated TDP-43 mediated by the ubiquitin proteasome system and macroautophagy

(2017) Roberta Cascella et al.   FASEB JOURNAL

Increased cytoplasmic TDP-43 reduces global protein synthesis by interacting with RACK1 on polyribosomes

(2017) Arianna Russo et al.   HUMAN MOLECULAR GENETICS

Proteostasis disturbance in amyotrophic lateral sclerosis

(2017) Danilo B. Medinas et al.   HUMAN MOLECULAR GENETICS

Point mutations in the N-terminal domain of transactive response DNA-binding protein 43 kDa (TDP-43) compromise its stability, dimerization, and functions

(2017) Miguel Mompeán et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transactive response DNA-binding protein 43 (TDP-43) regulates alternative splicing of tau exon 10: Implications for the pathogenesis of tauopathies

(2017) Jianlan Gu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Accumulation of autophagosomes confers cytotoxicity

(2017) Robert W. Button et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pathways of cellular proteostasis in aging and disease

(2017) Courtney L. Klaips et al.   JOURNAL OF CELL BIOLOGY

Progranulin deficiency causes impairment of autophagy and TDP-43 accumulation

(2017) Michael C. Chang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Anterior Cingulate Cortex TDP-43 Pathology in Sporadic Amyotrophic Lateral Sclerosis

(2017) Heiko Braak et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The heat shock response in neurons and astroglia and its role in neurodegenerative diseases

(2017) Rebecca San Gil et al.   Molecular Neurodegeneration

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

(2017) Lindsay A. Becker et al.   NATURE

TDP-43 expression influences amyloidβ plaque deposition and tau aggregation

(2017) Stephani A. Davis et al.   NEUROBIOLOGY OF DISEASE

Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials

(2017) Ruben P.A. van Eijk et al.   NEUROLOGY

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases

(2017) Hong Joo Kim et al.   NEURON

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Spinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS

(2017) Prajwal Ciryam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Acetylation-induced TDP-43 pathology is suppressed by an HSF1-dependent chaperone program

(2017) Ping Wang et al.   Nature Communications

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

TDP-43 accelerates age-dependent degeneration of interneurons

(2017) Hitomi Tsuiji et al.   Scientific Reports

Post-transcriptional Inhibition of Hsc70-4/HSPA8 Expression Leads to Synaptic Vesicle Cycling Defects in Multiple Models of ALS

(2017) Alyssa N. Coyne et al.   Cell Reports

Overexpression of the essential Sis1 chaperone reduces TDP-43 effects on toxicity and proteolysis

(2017) Sei-Kyoung Park et al.   PLoS Genetics

Mutation in the RRM2 domain of TDP-43 in Amyotrophic Lateral Sclerosis with rapid progression associated with ubiquitin positive aggregates in cultured motor neurons

(2017) Cindy Maurel et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Protein Quality Control and the Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Continuum

(2017) Hamideh Shahheydari et al.   Frontiers in Molecular Neuroscience

Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand

(2017) Nandini Ramesh et al.   Frontiers in Molecular Neuroscience

Formation and spreading of TDP-43 aggregates in cultured neuronal and glial cells demonstrated by time-lapse imaging

(2017) Tomohiro Ishii et al.   PLoS One

Pathological TDP-43 changes in Betz cells differ from those in bulbar and spinal α-motoneurons in sporadic amyotrophic lateral sclerosis

(2016) Heiko Braak et al.   ACTA NEUROPATHOLOGICA

Disturbance of proteasomal and autophagic protein degradation pathways by amyotrophic lateral sclerosis-linked mutations in ubiquilin 2

(2016) Mayuko Osaka et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

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

The extreme N-terminus of TDP-43 mediates the cytoplasmic aggregation of TDP-43 and associated toxicity in vivo

(2016) Hiroki Sasaguri et al.   BRAIN RESEARCH

Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation

(2016) Hansen Lui et al.   CELL

UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome

(2016) Roland Hjerpe et al.   CELL

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity

(2016) Valeria Crippa et al.   HUMAN MOLECULAR GENETICS

Phosphorylation of TAR DNA-binding Protein of 43 kDa (TDP-43) by Truncated Casein Kinase 1δ Triggers Mislocalization and Accumulation of TDP-43

(2016) Takashi Nonaka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Increased Ubqln2 expression causes neuron death in transgenic rats

(2016) Bo Huang et al.   JOURNAL OF NEUROCHEMISTRY

Genetics of FTLD: overview and what else we can expect from genetic studies

(2016) Cyril Pottier et al.   JOURNAL OF NEUROCHEMISTRY

Overexpression of heat shock factor 1 maintains TAR DNA binding protein 43 solubility via induction of inducible heat shock protein 70 in cultured cells

(2016) Pei-Yi Lin et al.   JOURNAL OF NEUROSCIENCE RESEARCH

The frontotemporal dementia-motor neuron disease continuum

(2016) James R Burrell et al.   LANCET

The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity

(2016) Wenzhang Wang et al.   NATURE MEDICINE

Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS–FTD-linkedUBQLN2mutations

(2016) Nhat T. T. Le et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting protein homeostasis in sporadic inclusion body myositis

(2016) Mhoriam Ahmed et al.   Science Translational Medicine

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

CUL2-mediated clearance of misfolded TDP-43 is paradoxically affected by VHL in oligodendrocytes in ALS

(2016) Tsukasa Uchida et al.   Scientific Reports

Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS)

(2016) Leslie I. Grad et al.   Cold Spring Harbor Perspectives in Medicine

Acetylation of Lysine 201 Inhibits the DNA-Binding Ability of PhoP to Regulate Salmonella Virulence

(2016) Jie Ren et al.   PLoS Pathogens

Heterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: Evidence for clinico-pathologic subtypes

(2016) Ryoko Takeuchi et al.   Acta Neuropathologica Communications

Mass spectrometric analysis of accumulated TDP-43 in amyotrophic lateral sclerosis brains

(2016) Fuyuki Kametani et al.   Scientific Reports

Disparate Mutations Confer Therapeutic Gain of Hsp104 Function

(2015) Meredith E. Jackrel et al.   ACS Chemical Biology

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

(2015) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Functional recovery in new mouse models of ALS/FTLD after clearance of pathological cytoplasmic TDP-43

(2015) Adam K. Walker et al.   ACTA NEUROPATHOLOGICA

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism

(2015) Wen-Chuan Shen et al.   Autophagy

TDP-43 loss of function increases TFEB activity and blocks autophagosome-lysosome fusion

(2015) Q. Xia et al.   EMBO JOURNAL

Reduced protein turnover mediates functional deficits in transgenic mice expressing the 25 kDa C-terminal fragment of TDP-43

(2015) Antonella Caccamo et al.   HUMAN MOLECULAR GENETICS

Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis

(2015) Vinod Sundaramoorthy et al.   HUMAN MOLECULAR GENETICS

Activation of ER Stress and Autophagy Induced by TDP-43 A315T as Pathogenic Mechanism and the Corresponding Histological Changes in Skin as Potential Biomarker for ALS with the Mutation

(2015) Xuejing Wang et al.   International Journal of Biological Sciences

Valproate Attenuates 25-kDa C-Terminal Fragment of TDP-43-Induced Neuronal Toxicity via Suppressing Endoplasmic Reticulum Stress and Activating Autophagy

(2015) Xuejing Wang et al.   International Journal of Biological Sciences

TDP-43 is intercellularly transmitted across axon terminals

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

Rapamycin alleviates pathogenesis of a newDrosophilamodel of ALS-TDP

(2015) Ching-Wei Cheng et al.   JOURNAL OF NEUROGENETICS

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

cAMP-induced phosphorylation of 26S proteasomes on Rpn6/PSMD11 enhances their activity and the degradation of misfolded proteins

(2015) Sudarsanareddy Lokireddy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

(2015) J. Chew 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

An acetylation switch controls TDP-43 function and aggregation propensity

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

Proteotoxic Stress Induces Phosphorylation of p62/SQSTM1 by ULK1 to Regulate Selective Autophagic Clearance of Protein Aggregates

(2015) Junghyun Lim et al.   PLoS Genetics

Dysexecutive functioning in ALS patients and its clinical implications

(2015) Elisabeth Kasper et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Transcriptomic Changes Due to Cytoplasmic TDP-43 Expression Reveal Dysregulation of Histone Transcripts and Nuclear Chromatin

(2015) Alexandre Amlie-Wolf et al.   PLoS One

Pathogenic Ubqln2 gains toxic properties to induce neuron death

(2014) Qinxue Wu et al.   ACTA NEUROPATHOLOGICA

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

(2014) Julie van der Zee et al.   ACTA NEUROPATHOLOGICA

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

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Defining and measuring autophagosome flux—concept and reality

(2014) Ben Loos et al.   Autophagy

Potentiated Hsp104 Variants Antagonize Diverse Proteotoxic Misfolding Events

(2014) Meredith E. Jackrel et al.   CELL

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD

(2014) Serena Lattante et al.   HUMAN MOLECULAR GENETICS

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

Ubiquilin 2: A component of the ubiquitin–proteasome system with an emerging role in neurodegeneration

(2014) Katharine Y. Zhang et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Folding of the RNA Recognition Motif (RRM) Domains of the Amyotrophic Lateral Sclerosis (ALS)-linked Protein TDP-43 Reveals an Intermediate State

(2014) Brian C. Mackness et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

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

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

Casein Kinase II Induced Polymerization of Soluble TDP-43 into Filaments Is Inhibited by Heat Shock Proteins

(2014) Yari Carlomagno et al.   PLoS One

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

Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutantUBQLN2

(2014) George H. Gorrie 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

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

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

(2014) Takashi Ayaki et al.   Acta Neuropathologica Communications

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

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

CDC7 inhibition blocks pathological TDP-43 phosphorylation and neurodegeneration

(2013) Nicole F. Liachko et al.   ANNALS OF NEUROLOGY

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

(2013) Johannes Brettschneider et al.   ANNALS OF NEUROLOGY

Ubiquilin-2 (UBQLN2) binds with high affinity to the C-terminal region of TDP-43 and modulates TDP-43 levels in H4 cells: Characterization of inhibition by nucleic acids and 4-aminoquinolines

(2013) Joel A. Cassel et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Chaperone-mediated autophagy: roles in disease and aging

(2013) Ana Maria Cuervo et al.   CELL RESEARCH

TDP-43 Phosphorylation by casein kinase Iε promotes oligomerization and enhances toxicity in vivo

(2013) Darshana K. Choksi et al.   HUMAN MOLECULAR GENETICS

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons

(2013) Wenzhang Wang et al.   HUMAN MOLECULAR GENETICS

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

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

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

(2013) Shuo-Chien Ling et al.   NEURON

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

ALS-Associated TDP-43 Induces Endoplasmic Reticulum Stress, Which Drives Cytoplasmic TDP-43 Accumulation and Stress Granule Formation

(2013) Adam K. Walker et al.   PLoS One

Heat-shock protein dysregulation is associated with functional and pathological TDP-43 aggregation

(2013) Hsiang-Yu Chang et al.   Nature Communications

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

(2013) Takashi Nonaka et al.   Cell Reports

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

Classification of FTLD-TDP cases into pathological subtypes using antibodies against phosphorylated and non-phosphorylated TDP43

(2013) Rachel H Tan et al.   Acta Neuropathologica Communications

Impaired proteasome function in sporadic amyotrophic lateral sclerosis

(2012) Edor Kabashi et al.   Amyotrophic Lateral Sclerosis

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation

(2012) Mauricio Budini 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

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

(2012) Shoji Watanabe 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

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

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

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

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

Cell stress induces TDP-43 pathological changes associated with ERK1/2 dysfunction: implications in ALS

(2011) Victòria Ayala et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Rapamycin treatment augments motor neuron degeneration in SOD1G93Amouse model of amyotrophic lateral sclerosis

(2011) Xiaojie Zhang et al.   Autophagy

Selective Frontoinsular von Economo Neuron and Fork Cell Loss in Early Behavioral Variant Frontotemporal Dementia

(2011) Eun-Joo Kim et al.   CEREBRAL CORTEX

Characterization of the Asian myopathy patients with VCP mutations

(2011) Z. Shi et al.   EUROPEAN JOURNAL OF NEUROLOGY

Regulation of Autophagy by Neuropathological Protein TDP-43

(2011) Jayarama Krishnan Bose 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

Autophagy in Spinal Cord Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

(2011) Shoichi Sasaki   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL 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

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

(2011) Janet van Eersel et al.   PLoS One

Acetylation of lysine 120 of p53 endows DNA-binding specificity at effective physiological salt concentration

(2011) E. Arbely et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Regulation of TDP-43 aggregation by phosphorylation andp62/SQSTM1

(2010) Owen A. Brady et al.   JOURNAL OF NEUROCHEMISTRY

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

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

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

Enhancement of proteasome activity by a small-molecule inhibitor of USP14

(2010) Byung-Hoon Lee et al.   NATURE

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

(2010) Andrew C. Elden et al.   NATURE

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

(2010) Vivianna M Van Deerlin et al.   NATURE GENETICS

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

(2010) Mallikarjun Badadani 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

Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

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

(2009) Takashi Nonaka 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

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

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

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

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

Autophagy Inhibition Compromises Degradation of Ubiquitin-Proteasome Pathway Substrates

(2009) Viktor I. Korolchuk et al.   MOLECULAR CELL

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

Regional distribution of TDP-43 inclusions in Alzheimer disease (AD) brains: Their relation to AD common pathology

(2009) Ai Kadokura et al.   NEUROPATHOLOGY

Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin-proteasome system

(2009) Xiaoju Wang et al.   NEUROSCIENCE LETTERS

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

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

White matter lesions in the brain with frontotemporal lobar degeneration with motor neuron disease: TDP-43-immunopositive inclusions co-localize with p62, but not ubiquitin

(2008) Masanori Hiji 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

Potentiation of Amyotrophic Lateral Sclerosis (ALS)-associated TDP-43 Aggregation by the Proteasome-targeting Factor, Ubiquilin 1

(2008) Sang Hwa Kim 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

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

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

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