TDP-43 Proteinopathy and Tauopathy: Do They Have Pathomechanistic Links?

Six generations of CHMP2B ‐mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival

(2022) Peter Roos et al.   ACTA NEUROLOGICA SCANDINAVICA

Progranulin mutations in clinical and neuropathological Alzheimer's disease

(2022) Badri N. Vardarajan et al.   Alzheimers & Dementia

Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration

(2022) Yuichi Riku et al.   BRAIN

Frequency of LATE neuropathologic change across the spectrum of Alzheimer’s disease neuropathology: combined data from 13 community-based or population-based autopsy cohorts

(2022) Peter T. Nelson et al.   ACTA NEUROPATHOLOGICA

TDP ‐43 Pathology Exacerbates Cognitive Decline in Primary Age‐Related Tauopathy

(2022) Denis S. Smirnov et al.   ANNALS OF NEUROLOGY

Aberrant cytoplasmic intron retention is a blueprint for RNA binding protein mislocalization in amyotrophic lateral sclerosis

(2021) Giulia E Tyzack et al.   BRAIN

Triad of TDP43 control in neurodegeneration: autoregulation, localization and aggregation

(2021) Paraskevi Tziortzouda et al.   NATURE REVIEWS NEUROSCIENCE

Globular glial tauopathy with a mutation in MAPT and unusual TDP-43 proteinopathy in a patient with behavioural-variant frontotemporal dementia

(2021) Shelley L. Forrest et al.   ACTA NEUROPATHOLOGICA

Concurrent tau pathologies in frontotemporal lobar degeneration with TDP‐43 pathology

(2021) Shunsuke Koga et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Primary Tau Pathology, Not Copathology, Correlates With Clinical Symptoms in PSP and CBD

(2020) John L Robinson et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Lysosomal Exocytosis, Exosome Release and Secretory Autophagy: The Autophagic- and Endo-Lysosomal Systems Go Extracellular

(2020) Sandra Buratta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

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

Aberrant interaction between FUS and SFPQ in neurons in a wide range of FTLD spectrum diseases

(2020) Shinsuke Ishigaki et al.   BRAIN

Paraspeckle components NONO and PSPC1 are not mislocalized from motor neuron nuclei in sporadic ALS

(2020) Giulia E Tyzack et al.   BRAIN

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

(2020) John L Robinson et al.   BRAIN

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

(2020) Georg Werner et al.   EMBO REPORTS

Necrosome‐positive granulovacuolar degeneration is associated with TDP‐43 pathological lesions in the hippocampus of ALS/FTLD cases

(2020) E. Van Schoor et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

A novel temporal‐predominant neuro‐astroglial tauopathy associated with TMEM106B gene polymorphism in FTLD/ALS‐TDP

(2020) Jorge J Llibre‐Guerra et al.   BRAIN PATHOLOGY

Age-Dependent Decline in Synaptic Mitochondrial Function Is Exacerbated in Vulnerable Brain Regions of Female 3xTg-AD Mice

(2020) César Espino de la Fuente-Muñoz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

(2020) Mauro Montalbano et al.   NEUROBIOLOGY OF DISEASE

The wide-ranging clinical and genetic features in Japanese families with valosin-containing protein proteinopathy

(2020) Takashi Ando et al.   NEUROBIOLOGY OF AGING

Mutant TDP-43 Causes Early-Stage Dose-Dependent Motor Neuron Degeneration in a TARDBP Knockin Mouse Model of ALS

(2019) Sarah Y. Ebstein et al.   Cell Reports

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

MAPT mutations, tauopathy, and mechanisms of neurodegeneration

(2019) Kevin H. Strang et al.   LABORATORY INVESTIGATION

Increased prevalence of granulovacuolar degeneration in C9orf72 mutation

(2019) Yuichi Riku et al.   ACTA NEUROPATHOLOGICA

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

(2019) Peter T Nelson et al.   BRAIN

Increased Tau Phosphorylation in Motor Neurons From Clinically Pure Sporadic Amyotrophic Lateral Sclerosis Patients

(2019) Claire H Stevens et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy

(2019) Christopher P. Cali et al.   ACTA NEUROPATHOLOGICA

Splicing repression is a major function of TDP-43 in motor neurons

(2019) Aneesh Donde et al.   ACTA NEUROPATHOLOGICA

Co-morbidity of progressive supranuclear palsy and amyotrophic lateral sclerosis: a clinical-pathological case report

(2019) Koji Fujita et al.   BMC Neurology

Suppression of Progranulin Expression Leads to Formation of Intranuclear TDP-43 Inclusions In Vitro: A Cell Model of Frontotemporal Lobar Degeneration

(2019) Jiuling Zhu et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Synergistic toxicity in an in vivo model of neurodegeneration through the co-expression of human TDP-43M337V and tauT175D protein

(2019) Alexander J. Moszczynski et al.   Acta Neuropathologica Communications

Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms

(2019) Vincent Huin et al.   BRAIN

TDP-43 knockdown causes innate immune activation via protein kinase R in astrocytes

(2019) Thomas J. LaRocca et al.   NEUROBIOLOGY OF DISEASE

Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype

(2018) Shunsuke Koga et al.   ACTA NEUROPATHOLOGICA

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

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

DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy

(2018) Hiroyuki Honda et al.   PARKINSONISM & RELATED DISORDERS

TDP-43 causes neurotoxicity and cytoskeletal dysfunction in primary cortical neurons

(2018) Pranetha Baskaran et al.   PLoS One

Intron retention and nuclear loss of SFPQ are molecular hallmarks of ALS

(2018) Raphaelle Luisier et al.   Nature Communications

Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum

(2018) Celeste M. Karch et al.   JAMA Neurology

Structures of filaments from Pick’s disease reveal a novel tau protein fold

(2018) Benjamin Falcon et al.   NATURE

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

(2018) Sílvia Porta et al.   Nature Communications

Association of Apolipoprotein E ε4 With Transactive Response DNA-Binding Protein 43

(2018) Alexandra M. Wennberg et al.   JAMA Neurology

Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease

(2017) Takahiro Takeda et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Dementia After Moderate-Severe Traumatic Brain Injury: Coexistence of Multiple Proteinopathies

(2017) Kimbra Kenney et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations

(2017) Takashi Ayaki et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Pathologic Involvement of Glutamatergic Striatal Inputs From the Cortices in TAR DNA-Binding Protein 43 kDa-Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2017) Yuichi Riku et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy

(2017) Takayasu Mishima et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Cryo-EM structures of tau filaments from Alzheimer’s disease

(2017) Anthony W. P. Fitzpatrick et al.   NATURE

Amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Hohara focus of the Kii Peninsula: A multiple proteinopathy?

(2017) Maya Mimuro et al.   NEUROPATHOLOGY

The origins of rimmed vacuoles and granulovacuolar degeneration bodies are associated with the Wnt signaling pathway

(2017) Yukari Murata-Shinozaki et al.   NEUROSCIENCE LETTERS

Tau association with synaptic vesicles causes presynaptic dysfunction

(2017) Lujia Zhou et al.   Nature Communications

Altered Tau Isoform Ratio Caused by Loss of FUS and SFPQ Function Leads to FTLD-like Phenotypes

(2017) Shinsuke Ishigaki et al.   Cell Reports

Neuropathological criteria of anti-IgLON5-related tauopathy

(2016) Ellen Gelpi et al.   ACTA NEUROPATHOLOGICA

Updated TDP-43 in Alzheimer’s disease staging scheme

(2016) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Granulovacuolar degeneration: a neurodegenerative change that accompanies tau pathology

(2016) Christoph Köhler   ACTA NEUROPATHOLOGICA

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

(2016) Yohei Iguchi et al.   BRAIN

TDP-43 pathology in Alzheimer's disease, dementia with Lewy bodies and ageing

(2016) Kirsty E. McAleese et al.   BRAIN PATHOLOGY

Structural, super-resolution microscopy analysis of paraspeckle nuclear body organization

(2016) Jason A. West et al.   JOURNAL OF CELL BIOLOGY

Marked Involvement of the Striatal Efferent System in TAR DNA-Binding Protein 43 kDa-Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2016) Yuichi Riku et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy

(2016) Shunsuke Koga et al.   MOVEMENT DISORDERS

Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy

(2016) Roya Behrouzi et al.   Acta Neuropathologica Communications

Concurrent neurodegenerative pathologies in periventricular nodular heterotopia

(2015) Kevin F. Bieniek et al.   ACTA NEUROPATHOLOGICA

PART is part of Alzheimer disease

(2015) Charles Duyckaerts et al.   ACTA NEUROPATHOLOGICA

Aging-related tau astrogliopathy (ARTAG): harmonized evaluation strategy

(2015) Gabor G. Kovacs et al.   ACTA NEUROPATHOLOGICA

Sporadic inclusion body myositis: clinical, pathological, and genetic analysis of eight Polish patients

(2015) Biruta Kierdaszuk et al.   FOLIA NEUROPATHOLOGICA

Prion-like domains in RNA binding proteins are essential for building subnuclear paraspeckles

(2015) Sven Hennig et al.   JOURNAL OF CELL BIOLOGY

Progranulin Reduction Is Associated With Increased Tau Phosphorylation in P301L Tau Transgenic Mice

(2015) Masato Hosokawa et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Familial Behavioral Variant Frontotemporal Dementia Associated With Astrocyte-Predominant Tauopathy

(2015) Isidre Ferrer et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

An autopsy case of familial amyotrophic lateral sclerosis with aTARDBPQ343R mutation

(2015) Koichi Okamoto et al.   NEUROPATHOLOGY

Expression of neurodegenerative disease-related proteins and caspase-3 in glioneuronal tumours

(2015) A. S. Prabowo et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Re-examining tau-immunoreactive pathology in the population: granulovacuolar degeneration and neurofibrillary tangles

(2015) Sally Hunter et al.   Alzheimers Research & Therapy

Differential induction and spread of tau pathology in young PS19 tau transgenic mice following intracerebral injections of pathological tau from Alzheimer’s disease or corticobasal degeneration brains

(2014) Susana Boluda et al.   ACTA NEUROPATHOLOGICA

Primary age-related tauopathy (PART): a common pathology associated with human aging

(2014) John F. Crary et al.   ACTA NEUROPATHOLOGICA

Hippocampal sclerosis in Lewy body disease is a TDP-43 proteinopathy similar to FTLD-TDP Type A

(2014) Naoya Aoki et al.   ACTA NEUROPATHOLOGICA

TDP-43 is a key player in the clinical features associated with Alzheimer’s disease

(2014) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

No interaction between tau and TDP-43 pathologies in either frontotemporal lobar degeneration or motor neurone disease

(2014) Andrew C. Robinson et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer

(2014) Helen Ling et al.   Acta Neuropathologica Communications

Peripheral administration of tau aggregates triggers intracerebral tauopathy in transgenic mice

(2013) Florence Clavaguera et al.   ACTA NEUROPATHOLOGICA

Isoform transition from four-repeat to three-repeat tau underlies dendrosomatic and regional progression of neurofibrillary pathology

(2013) Makoto Hara et al.   ACTA NEUROPATHOLOGICA

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not

(2013) John Hardy et al.   EXPERIMENTAL NEUROLOGY

Mammalian Target of Rapamycin (mTor) Mediates Tau Protein Dyshomeostasis

(2013) Zhi Tang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Amyotrophic lateral sclerosis—a model of corticofugal axonal spread

(2013) Heiko Braak et al.   Nature Reviews Neurology

Co-localization of Bunina bodies and TDP-43 inclusions in lower motor neurons in amyotrophic lateral sclerosis

(2013) Fumiaki Mori et al.   NEUROPATHOLOGY

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

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

(2013) Takashi Nonaka et al.   Cell Reports

Lower Motor Neuron Involvement in TAR DNA-Binding Protein of 43 kDa–Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2013) Yuichi Riku et al.   JAMA Neurology

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

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

Widespread neuronal and glial hyperphosphorylated tau deposition in ALS with cognitive impairment

(2012) Wencheng Yang et al.   Amyotrophic Lateral Sclerosis

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

Stages of granulovacuolar degeneration: their relation to Alzheimer’s disease and chronic stress response

(2011) Dietmar Rudolf Thal et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

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

Seeding of Normal Tau by Pathological Tau Conformers Drives Pathogenesis of Alzheimer-like Tangles

(2011) Jing L. Guo 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

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Coexistence of TDP-43 and tau pathology in neurodegeneration with brain iron accumulation type 1 (NBIA-1, formerly Hallervorden-Spatz syndrome)

(2011) Takashi Haraguchi et al.   NEUROPATHOLOGY

Phosphorylated TDP-43 pathology and hippocampal sclerosis in progressive supranuclear palsy

(2010) Osamu Yokota et al.   ACTA NEUROPATHOLOGICA

Progranulin deficiency leads to enhanced cell vulnerability and TDP-43 translocation in primary neuronal cultures

(2010) Aobo Guo et al.   BRAIN RESEARCH

Granulovacuolar degeneration (GVD) bodies of Alzheimer's disease (AD) resemble late-stage autophagic organelles

(2010) K. E. Funk et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Mutations in CHMP2B in Lower Motor Neuron Predominant Amyotrophic Lateral Sclerosis (ALS)

(2010) Laura E. Cox et al.   PLoS One

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

Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

(2009) Felix Geser et al.   ARCHIVES OF NEUROLOGY

Brains With Medial Temporal Lobe Neurofibrillary Tangles But No Neuritic Amyloid Plaques Are a Diagnostic Dilemma But May Have Pathogenetic Aspects Distinct From Alzheimer Disease

(2009) Peter T. Nelson et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Enduring involvement of tau, β-amyloid, α-synuclein, ubiquitin and TDP-43 pathology in the amyotrophic lateral sclerosis/parkinsonism–dementia complex of Guam (ALS/PDC)

(2008) Judith Miklossy et al.   ACTA NEUROPATHOLOGICA

Sporadic amyotrophic lateral sclerosis: two pathological patterns shown by analysis of distribution of TDP-43-immunoreactive neuronal and glial cytoplasmic inclusions

(2008) Yasushi Nishihira et al.   ACTA NEUROPATHOLOGICA

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

(2008) Masato Hasegawa et al.   ANNALS OF NEUROLOGY

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

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

Colocalization of Transactivation-Responsive DNA-Binding Protein 43 and Huntingtin in Inclusions of Huntington Disease

(2008) Claudia Schwab et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

White Matter Tauopathy With Globular Glial Inclusions: A Distinct Sporadic Frontotemporal Lobar Degeneration

(2008) Gabor G. Kovacs et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Concomitant TAR-DNA-Binding Protein 43 Pathology Is Present in Alzheimer Disease and Corticobasal Degeneration but Not in Other Tauopathies

(2008) Kunihiro Uryu et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE