Tau and TDP-43 proteinopathies: kindred pathologic cascades and genetic pleiotropy

Neurodegenerative disease concomitant proteinopathies are prevalent, age-related and APOE4-associated

(2018) John L Robinson et al.   BRAIN

The phenotype of bilateral hippocampal sclerosis and its management in “real life” clinical settings

(2018) Arjune Sen et al.   EPILEPSIA

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

(2018) Cyril Pottier et al.   LANCET NEUROLOGY

TMEM106B haplotypes have distinct gene expression patterns in aged brain

(2018) Yingxue Ren et al.   Molecular Neurodegeneration

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

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

TDP-43 pathology in anterior temporal pole cortex in aging and Alzheimer’s disease

(2018) Sukriti Nag et al.   Acta Neuropathologica Communications

Brain Injury in the Context of Tauopathies

(2018) Jose F. Abisambra et al.   JOURNAL OF ALZHEIMERS DISEASE

Hippocampal Sclerosis of Aging is a Key Alzheimer's Disease Mimic: Clinical-Pathologic Correlations and Comparisons with both Alzheimer's Disease and Non-Tauopathic Frontotemporal Lobar Degeneration

(2018) Willa D. Brenowitz et al.   JOURNAL OF ALZHEIMERS DISEASE

Evaluation of TDP-43 proteinopathy and hippocampal sclerosis in relation to APOE ε4 haplotype status: a community-based cohort study

(2018) Hyun-Sik Yang et al.   LANCET NEUROLOGY

Risk factors of hippocampal sclerosis in the oldest old

(2018) Thomas Trieu et al.   NEUROLOGY

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

Variation in TMEM106B in chronic traumatic encephalopathy

(2018) Jonathan D. Cherry et al.   Acta Neuropathologica Communications

The ubiquity of pleiotropy in human disease

(2017) Kevin Chesmore et al.   HUMAN GENETICS

Microglial and Neuronal TDP-43 Pathology in Anti-IgLON5-Related Tauopathy

(2017) Annachiara Cagnin et al.   JOURNAL OF ALZHEIMERS DISEASE

Progranulin deficiency causes impairment of autophagy and TDP-43 accumulation

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

The Amygdala as a Locus of Pathologic Misfolding in Neurodegenerative Diseases

(2017) Peter T Nelson 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

Gene-based association study of genes linked to hippocampal sclerosis of aging neuropathology: GRN , TMEM106B , ABCC9 , and KCNMB2

(2017) Yuriko Katsumata et al.   NEUROBIOLOGY OF AGING

Loss of TMEM106B Ameliorates Lysosomal and Frontotemporal Dementia-Related Phenotypes in Progranulin-Deficient Mice

(2017) Zoe A. Klein et al.   NEURON

Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy

(2017) P. Tacik et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Differential Aging Analysis in Human Cerebral Cortex Identifies Variants in TMEM106B and GRN that Regulate Aging Phenotypes

(2017) Herve Rhinn et al.   Cell Systems

Elevated TMEM106B levels exaggerate lipofuscin accumulation and lysosomal dysfunction in aged mice with progranulin deficiency

(2017) Xiaolai Zhou et al.   Acta Neuropathologica Communications

Hyperphosphorylated Tau is a Cause of Neuronal Dysfunction in Tauopathy

(2017) Akihiko Takashima   JOURNAL OF ALZHEIMERS DISEASE

Tau Pathology and Neurodegeneration: An Obvious but Misunderstood Link

(2017) André Delacourte   JOURNAL OF ALZHEIMERS DISEASE

Neuropathological Correlates of Dementia in Over-80-Year-Old Brain Donors from the Population-Based Cambridge City over-75s Cohort (CC75C) Study

(2017) Carol Brayne et al.   JOURNAL OF ALZHEIMERS DISEASE

Widespread tau seeding activity at early Braak stages

(2016) Jennifer L. Furman et al.   ACTA NEUROPATHOLOGICA

Genomics and CSF analyses implicate thyroid hormone in hippocampal sclerosis of aging

(2016) Peter T. Nelson et al.   ACTA NEUROPATHOLOGICA

Neuropathological criteria of anti-IgLON5-related tauopathy

(2016) Ellen Gelpi et al.   ACTA NEUROPATHOLOGICA

Hippocampal Sclerosis of Aging, a Common Alzheimer’s Disease ‘Mimic’: Risk Genotypes are Associated with Brain Atrophy Outside the Temporal Lobe

(2016) Kwangsik Nho et al.   JOURNAL OF ALZHEIMERS DISEASE

Chronic Traumatic Encephalopathy Presenting as Alzheimer’s Disease in a Retired Soccer Player

(2016) Lea T. Grinberg et al.   JOURNAL OF ALZHEIMERS DISEASE

Hippocampal Sclerosis but Not Normal Aging or Alzheimer Disease Is Associated With TDP-43 Pathology in the Basal Forebrain of Aged Persons

(2016) Matthew D. Cykowski et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

“New Old Pathologies”: AD, PART, and Cerebral Age-Related TDP-43 With Sclerosis (CARTS)

(2016) Peter T. Nelson et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Relation of genomic variants for Alzheimer disease dementia to common neuropathologies

(2016) Jose M. Farfel et al.   NEUROLOGY

The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)

(2016) Jacqueline MacArthur et al.   NUCLEIC ACIDS RESEARCH

Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C

(2016) A. Dardis et al.   Acta Neuropathologica Communications

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

(2016) Fuyuki Kametani et al.   Scientific Reports

A novel tau mutation, p.K317N, causes globular glial tauopathy

(2015) Pawel Tacik et al.   ACTA NEUROPATHOLOGICA

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

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

The first NINDS/NIBIB consensus meeting to define neuropathological criteria for the diagnosis of chronic traumatic encephalopathy

(2015) Ann C. McKee et al.   ACTA NEUROPATHOLOGICA

Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank

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

ABCC9/SUR2 in the brain: Implications for hippocampal sclerosis of aging and a potential therapeutic target

(2015) Peter T. Nelson et al.   AGEING RESEARCH REVIEWS

The role of tau in the pathological process and clinical expression of Huntington’s disease

(2015) Romina Vuono et al.   BRAIN

Reassessment of Risk Genotypes (GRN,TMEM106B, andABCC9Variants) Associated With Hippocampal Sclerosis of Aging Pathology

(2015) Peter T. Nelson et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Post-traumatic neurodegeneration and chronic traumatic encephalopathy

(2015) Daniel H. Daneshvar et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

TheTMEM106Blocus and TDP-43 pathology in older persons without FTLDAuthor Response

(2015) Dennis W. Dickson et al.   NEUROLOGY

The TMEM106B locus and TDP-43 pathology in older persons without FTLD

(2015) L. Yu et al.   NEUROLOGY

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

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

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

(2014) Peter T. Nelson et al.   ACTA NEUROPATHOLOGICA

Differential clinicopathologic and genetic features of late-onset amnestic dementias

(2014) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

Is synaptic loss a unique hallmark of Alzheimer's disease?

(2014) Stephen W. Scheff et al.   BIOCHEMICAL PHARMACOLOGY

Astrocytic TDP-43 Pathology in Alexander Disease

(2014) A. K. Walker et al.   JOURNAL OF NEUROSCIENCE

Lysosome size, motility and stress response regulated by fronto-temporal dementia modifier TMEM106B

(2014) Massimiliano Stagi et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

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

The amyloid state and its association with protein misfolding diseases

(2014) Tuomas P. J. Knowles et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Progressive Supranuclear Palsy in a family with TDP-43 pathology

(2014) A. Kertesz et al.   NEUROCASE

Prevalence of mixed pathologies in the aging brain

(2014) Jasmin Rahimi et al.   Alzheimers Research & Therapy

A Chaperome Subnetwork Safeguards Proteostasis in Aging and Neurodegenerative Disease

(2014) Marc Brehme et al.   Cell Reports

TDP-43 deposition in prospectively followed, cognitively normal elderly individuals: correlation with argyrophilic grains but not other concomitant pathologies

(2013) Stacy J. Arnold et al.   ACTA NEUROPATHOLOGICA

Corticobasal degeneration with olivopontocerebellar atrophy and TDP-43 pathology: an unusual clinicopathologic variant of CBD

(2013) Naomi Kouri et al.   ACTA NEUROPATHOLOGICA

Hippocampal sclerosis of aging, a prevalent and high-morbidity brain disease

(2013) Peter T. Nelson et al.   ACTA NEUROPATHOLOGICA

Globular glial tauopathies (GGT): consensus recommendations

(2013) Zeshan Ahmed et al.   ACTA NEUROPATHOLOGICA

Distinct α-Synuclein Strains Differentially Promote Tau Inclusions in Neurons

(2013) Jing L. Guo et al.   CELL

The microtubule associated protein tau H1 haplotype and risk of essential tremor

(2013) L. N. Clark et al.   EUROPEAN JOURNAL OF NEUROLOGY

TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia

(2013) Alexandra M. Nicholson et al.   JOURNAL OF NEUROCHEMISTRY

Tau pathology and neurodegeneration

(2013) Maria Grazia Spillantini et al.   LANCET NEUROLOGY

Pleiotropy in complex traits: challenges and strategies

(2013) Nadia Solovieff et al.   NATURE REVIEWS GENETICS

Chronic neuropathologies of single and repetitive TBI: substrates of dementia?

(2013) Douglas H. Smith et al.   Nature Reviews Neurology

Parkinson's disease dementia: convergence of α-synuclein, tau and amyloid-β pathologies

(2013) David J. Irwin et al.   NATURE REVIEWS NEUROSCIENCE

Accumulation of phosphorylated TDP-43 in the CNS of a patient with Cockayne syndrome

(2013) Atsushi Sakurai et al.   NEUROPATHOLOGY

TDP-43 pathology is present in most post-encephalitic parkinsonism brains

(2013) Helen Ling et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Kinase Inhibitor Screening Identifies Cyclin-Dependent Kinases and Glycogen Synthase Kinase 3 as Potential Modulators of TDP-43 Cytosolic Accumulation during Cell Stress

(2013) Diane Moujalled et al.   PLoS One

Autophagy and apoptosis dysfunction in neurodegenerative disorders

(2013) Saeid Ghavami et al.   PROGRESS IN NEUROBIOLOGY

The MAPT H1 haplotype is associated with tangle-predominant dementia

(2012) Ismael Santa-Maria et al.   ACTA NEUROPATHOLOGICA

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

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

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

(2012) Katherine R. Smith et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Membrane Orientation and Subcellular Localization of Transmembrane Protein 106B (TMEM106B), a Major Risk Factor for Frontotemporal Lobar Degeneration

(2012) Christina M. Lang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Correlation of Alzheimer Disease Neuropathologic Changes With Cognitive Status: A Review of the Literature

(2012) Peter T. Nelson et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

TMEM106B, the Risk Gene for Frontotemporal Dementia, Is Regulated by the microRNA-132/212 Cluster and Affects Progranulin Pathways

(2012) A. S. Chen-Plotkin et al.   JOURNAL OF NEUROSCIENCE

TMEM106B risk variant is implicated in the pathologic presentation of Alzheimer disease

(2012) N. J. Rutherford et al.   NEUROLOGY

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

Acute and chronically increased immunoreactivity to phosphorylation-independent but not pathological TDP-43 after a single traumatic brain injury in humans

(2011) Victoria E. Johnson et al.   ACTA NEUROPATHOLOGICA

TDP-43 pathological changes in early onset familial and sporadic Alzheimer’s disease, late onset Alzheimer’s disease and Down’s Syndrome: association with age, hippocampal sclerosis and clinical phenotype

(2011) Yvonne S. Davidson et al.   ACTA NEUROPATHOLOGICA

Hippocampal Sclerosis in the Elderly

(2011) Winnie C. Pao et al.   ALZHEIMER DISEASE & ASSOCIATED DISORDERS

Abundant Pleiotropy in Human Complex Diseases and Traits

(2011) Shanya Sivakumaran et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular properties of TAR DNA binding protein-43 fragments are dependent upon its cleavage site

(2011) Yoshiaki Furukawa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Hippocampal sclerosis in advanced age: clinical and pathological features

(2011) Peter T. Nelson et al.   BRAIN

Neuropathology of Frontotemporal Lobar Degeneration-Tau (FTLD-Tau)

(2011) Dennis W. Dickson et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments

(2011) Peter I. Joyce et al.   MAMMALIAN GENOME

Oxidative stress induced by glutathione depletion reproduces pathological modifications of TDP-43 linked to TDP-43 proteinopathies

(2011) Yohei Iguchi et al.   NEUROBIOLOGY OF DISEASE

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

Sporadic inclusion-body myositis: Conformational multifactorial ageing-related degenerative muscle disease associated with proteasomal and lysosomal inhibition, endoplasmic reticulum stress, and accumulation of amyloid-β42 oligomers and phosphorylated tau

(2011) Valerie Askanas et al.   PRESSE MEDICALE

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

(2010) Osamu Yokota et al.   ACTA NEUROPATHOLOGICA

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

(2010) Alexis Elbaz et al.   ANNALS OF NEUROLOGY

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu et al.   ARCHIVES OF NEUROLOGY

TDP-43 Proteinopathy and Motor Neuron Disease in Chronic Traumatic Encephalopathy

(2010) Ann C. McKee et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

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

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

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

Common Variant inGRNIs a Genetic Risk Factor for Hippocampal Sclerosis in the Elderly

(2010) Dennis W. Dickson et al.   Neurodegenerative Diseases

TDP-43 in ubiquitinated inclusions in the inferior olives in frontotemporal lobar degeneration and in other neurodegenerative diseases: a degenerative process distinct from normal ageing

(2009) Yvonne Davidson et al.   ACTA NEUROPATHOLOGICA

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

Transactive Response DNA-Binding Protein 43 Burden in Familial Alzheimer Disease and Down Syndrome

(2009) Carol F. Lippa et al.   ARCHIVES OF NEUROLOGY

Expression of TDP-43 C-terminal Fragmentsin VitroRecapitulates Pathological Features of TDP-43 Proteinopathies

(2009) Lionel M. Igaz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Propagation of Tau Misfolding from the Outside to the Inside of a Cell

(2009) Bess Frost et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Recent advances in our understanding of neurodegeneration

(2009) Kurt A. Jellinger   JOURNAL OF NEURAL TRANSMISSION

Temporal Lobe Sclerosis Associated With Hippocampal Sclerosis in Temporal Lobe Epilepsy: Neuropathological Features

(2009) Maria Thom et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Converging concepts of protein folding in vitro and in vivo

(2009) F Ulrich Hartl et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Amyloidogenic sequences in native protein structures

(2009) Susan Tzotzos et al.   PROTEIN SCIENCE

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

(2008) Masato Hasegawa et al.   ANNALS OF NEUROLOGY

Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland

(2008) Anna-Lotta Kaivorinne et al.   BMC Neurology

Abnormal phosphorylation of Ser409/410 of TDP-43 in FTLD-U and ALS

(2008) Yuki Inukai et al.   FEBS LETTERS

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

(2008) Rosa Rademakers et al.   HUMAN MOLECULAR GENETICS

Conformational Diversity of Wild-type Tau Fibrils Specified by Templated Conformation Change

(2008) Bess Frost 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

Neuropathology and Cognitive Impairment in Alzheimer Disease: A Complex but Coherent Relationship

(2008) Peter T. Nelson et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Age and apoE associations with complex pathologic features in Alzheimer's disease

(2008) Gregory A. Jicha et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype

(2008) K. A. Josephs et al.   NEUROLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE