Review: Molecular pathology of frontotemporal lobar degenerations

Mitochondrial dysfunction and neurodegenerative proteinopathies: mechanisms and prospects for therapeutic intervention

(2018) Thomas Briston et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

TDP-43 as a potential biomarker for amyotrophic lateral sclerosis: a systematic review and meta-analysis

(2018) Vivek Majumder et al.   BMC Neurology

TDP43 and RNA instability in amyotrophic lateral sclerosis

(2018) Kaitlin Weskamp et al.   BRAIN RESEARCH

Autoimmunity and Frontotemporal Dementia

(2018) Antonella Alberici et al.   Current Alzheimer Research

TDP-43 post-translational modifications in health and disease

(2018) Emanuele Buratti   EXPERT OPINION ON THERAPEUTIC TARGETS

Defects in synaptic transmission at the neuromuscular junction precede motor deficits in a TDP-43Q331K transgenic mouse model of amyotrophic lateral sclerosis

(2018) Kirat K. Chand et al.   FASEB JOURNAL

Neuron-Specific HuR-Deficient Mice Spontaneously Develop Motor Neuron Disease

(2018) Kevin Sun et al.   JOURNAL OF IMMUNOLOGY

Complement components are upregulated and correlate with disease progression in the TDP-43Q331K mouse model of amyotrophic lateral sclerosis

(2018) John D. Lee et al.   Journal of Neuroinflammation

The role of TREM2 in Alzheimer's disease and other neurodegenerative disorders

(2018) Susana Carmona et al.   LANCET NEUROLOGY

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

The role of lysosomes and autophagosomes in frontotemporal lobar degeneration

(2018) H. D. C. Bain et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

HnRNP L represses cryptic exons

(2018) Sean P. McClory et al.   RNA

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

Repeat-Associated Non-ATG Translation in Neurological Diseases

(2018) Tao Zu et al.   Cold Spring Harbor Perspectives in Biology

Disruption of ER−mitochondria signalling in fronto-temporal dementia and related amyotrophic lateral sclerosis

(2018) Dawn H. W. Lau et al.   Cell Death & Disease

Abnormal RNA stability in amyotrophic lateral sclerosis

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

TDP-43 regulation of stress granule dynamics in neurodegenerative disease-relevant cell types

(2018) Yousra Khalfallah et al.   Scientific Reports

Unexpected similarities between C9ORF72 and sporadic forms of ALS/FTD suggest a common disease mechanism

(2018) Erin G Conlon et al.   eLife

Linking hnRNP Function to ALS and FTD Pathology

(2018) Maria D. Purice et al.   Frontiers in Neuroscience

Pathogenesis of Frontotemporal Lobar Degeneration: Insights From Loss of Function Theory and Early Involvement of the Caudate Nucleus

(2018) Gen Sobue et al.   Frontiers in Neuroscience

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease

(2018) Nobutaka Sakae et al.   Acta Neuropathologica Communications

Different neuroinflammatory profile in amyotrophic lateral sclerosis and frontotemporal dementia is linked to the clinical phase

(2018) Patrick Oeckl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Recent advances in the molecular genetics of frontotemporal lobar degeneration

(2017) Innocenzo Rainero   FUNCTIONAL NEUROLOGY

RNA-binding proteins in neurodegeneration: mechanisms in aggregate

(2017) Erin G. Conlon et al.   GENES & DEVELOPMENT

Genetic mutations in RNA-binding proteins and their roles in ALS

(2017) Katannya Kapeli et al.   HUMAN GENETICS

The DNA damage response (DDR) is induced by the C9orf72 repeat expansion in amyotrophic lateral sclerosis

(2017) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Clinical Significance of TDP-43 Neuropathology in Amyotrophic Lateral Sclerosis

(2017) Matthew D. Cykowski et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Weighted Protein Interaction Network Analysis of Frontotemporal Dementia

(2017) Raffaele Ferrari et al.   JOURNAL OF PROTEOME RESEARCH

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

(2017) Lindsay A. Becker et al.   NATURE

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

Possible concurrence of TDP-43, tau and other proteins in amyotrophic lateral sclerosis/frontotemporal lobar degeneration

(2017) Takahiro Takeda   NEUROPATHOLOGY

RBM45 competes with HDAC1 for binding to FUS in response to DNA damage

(2017) Juanjuan Gong et al.   NUCLEIC ACIDS RESEARCH

TDP-43 suppresses tau expression via promoting its mRNA instability

(2017) Jianlan Gu et al.   NUCLEIC ACIDS RESEARCH

Microglial NFκB-TNFα hyperactivation induces obsessive–compulsive behavior in mouse models of progranulin-deficient frontotemporal dementia

(2017) Grietje Krabbe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

(2017) Jung-A. A. Woo et al.   Nature Communications

Anti-AMPA GluA3 antibodies in Frontotemporal dementia: a new molecular target

(2017) B. Borroni et al.   Scientific Reports

Disease Mechanisms of C9ORF72 Repeat Expansions

(2017) Tania F. Gendron et al.   Cold Spring Harbor Perspectives in Medicine

Retrotransposon activation contributes to neurodegeneration in a Drosophila TDP-43 model of ALS

(2017) Lisa Krug et al.   PLoS Genetics

Autophagy and Its Impact on Neurodegenerative Diseases: New Roles for TDP-43 and C9orf72

(2017) Mauricio Budini et al.   Frontiers in Molecular Neuroscience

Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis

(2017) Rachel H. Tan et al.   Acta Neuropathologica Communications

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

(2017) Yvonne S. Davidson et al.   Acta Neuropathologica Communications

Impaired protein degradation in FTLD and related disorders

(2016) Julia K. Götzl et al.   AGEING RESEARCH REVIEWS

Immunoprecipitation and mass spectrometry defines an extensive RBM45 protein–protein interaction network

(2016) Yang Li et al.   BRAIN RESEARCH

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

(2016) Hansen Lui et al.   CELL

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

(2016) Jelena Scekic‐Zahirovic et al.   EMBO JOURNAL

Developmentally Regulated RNA-binding Protein 1 (Drb1)/RNA-binding Motif Protein 45 (RBM45), a Nuclear-Cytoplasmic Trafficking Protein, Forms TAR DNA-binding Protein 43 (TDP-43)-mediated Cytoplasmic Aggregates

(2016) Takafumi Mashiko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Quantification of the Relative Contributions of Loss-of-function and Gain-of-function Mechanisms in TAR DNA-binding Protein 43 (TDP-43) Proteinopathies

(2016) Roberta Cascella et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Tyrosine kinase inhibition reverses TDP-43 effects on synaptic protein expression, astrocytic function and amino acid dis-homeostasis

(2016) Lanier Heyburn et al.   JOURNAL OF NEUROCHEMISTRY

Therapy and clinical trials in frontotemporal dementia: past, present, and future

(2016) Richard M. Tsai et al.   JOURNAL OF NEUROCHEMISTRY

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

(2016) Ian R. A. Mackenzie 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

Physiological functions and pathobiology of TDP-43 and FUS/TLS proteins

(2016) Antonia Ratti et al.   JOURNAL OF NEUROCHEMISTRY

Altered mRNP granule dynamics in FTLD pathogenesis

(2016) Hilary A. Bowden et al.   JOURNAL OF NEUROCHEMISTRY

The presence of heterogeneous nuclear ribonucleoproteins in frontotemporal lobar degeneration with FUS-positive inclusions

(2016) Priya Gami-Patel et al.   NEUROBIOLOGY OF AGING

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Poly(GR) in C9ORF72 -Related ALS/FTD Compromises Mitochondrial Function and Increases Oxidative Stress and DNA Damage in iPSC-Derived Motor Neurons

(2016) Rodrigo Lopez-Gonzalez et al.   NEURON

Role of FET proteins in neurodegenerative disorders

(2016) Francesca Svetoni et al.   RNA Biology

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

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

Distinct and shared functions of ALS-associated proteins TDP-43, FUS and TAF15 revealed by multisystem analyses

(2016) Katannya Kapeli et al.   Nature Communications

ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function

(2016) Aarti Sharma et al.   Nature Communications

In Vivo Formation of Vacuolated Multi-phase Compartments Lacking Membranes

(2016) Hermann Broder Schmidt et al.   Cell Reports

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

(2016) Erin G Conlon et al.   eLife

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production and glomerulonephropathy in mice

(2016) Amanda Atanasio et al.   Scientific Reports

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Reducing inflammation and rescuing FTD-related behavioral deficits in progranulin-deficient mice with α7 nicotinic acetylcholine receptor agonists

(2015) S. Sakura Minami et al.   BIOCHEMICAL PHARMACOLOGY

A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation

(2015) Avinash Patel et al.   CELL

Current strategies and findings in clinically relevant post-translational modification-specific proteomics

(2015) Oliver Pagel et al.   Expert Review of Proteomics

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor

(2015) Fatemeh Mohagheghi et al.   HUMAN MOLECULAR GENETICS

The molecular basis for development of proinflammatory autoantibodies to progranulin

(2015) Lorenz Thurner et al.   JOURNAL OF AUTOIMMUNITY

Viral expression of ALS-linked ubiquilin-2 mutants causes inclusion pathology and behavioral deficits in mice

(2015) Carolina Ceballos-Diaz et al.   Molecular Neurodegeneration

Tau in physiology and pathology

(2015) Yipeng Wang et al.   NATURE REVIEWS NEUROSCIENCE

Current trends in tauopathy research: from disease modelling to therapeutic approaches

(2015) Stephan Frank et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Evaluation of Skin Fibroblasts from Amyotrophic Lateral Sclerosis Patients for the Rapid Study of Pathological Features

(2015) Shu Yang et al.   NEUROTOXICITY RESEARCH

TDP-43 affects splicing profiles and isoform production of genes involved in the apoptotic and mitotic cellular pathways

(2015) Laura De Conti et al.   NUCLEIC ACIDS RESEARCH

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

(2015) Shuying Sun et al.   Nature Communications

RBM45 homo-oligomerization mediates association with ALS-linked proteins and stress granules

(2015) Yang Li et al.   Scientific Reports

A network of RNA and protein interactions in Fronto Temporal Dementia

(2015) Francesca Fontana et al.   Frontiers in Molecular Neuroscience

Frontotemporal lobar degeneration: defining phenotypic diversity through personalized medicine

(2014) David J. Irwin et al.   ACTA NEUROPATHOLOGICA

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS

(2014) Janis Bennion Callister et al.   EXPERIMENTAL NEUROLOGY

TDP-43 suppresses CGG repeat-induced neurotoxicity through interactions with HnRNP A2/B1

(2014) Fang He et al.   HUMAN MOLECULAR GENETICS

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

(2014) Hiroaki Suzuki et al.   HUMAN MOLECULAR GENETICS

Evolutionarily Conserved Heterogeneous Nuclear Ribonucleoprotein (hnRNP) A/B Proteins Functionally Interact with Human andDrosophilaTAR DNA-binding Protein 43 (TDP-43)

(2014) Maurizio Romano et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Frontotemporal dementia and its subtypes: a genome-wide association study

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

A novel non-rapid-eye movement and rapid-eye-movement parasomnia with sleep breathing disorder associated with antibodies to IgLON5: a case series, characterisation of the antigen, and post-mortem study

(2014) Lidia Sabater et al.   LANCET NEUROLOGY

Antisense Oligonucleotide Therapy for the Treatment of C9ORF72 ALS/FTD Diseases

(2014) Giulietta Riboldi et al.   MOLECULAR NEUROBIOLOGY

The Tau Tubulin Kinases TTBK1/2 Promote Accumulation of Pathological TDP-43

(2014) Nicole F. Liachko et al.   PLoS Genetics

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

Compromised paraspeckle formation as a pathogenic factor in FUSopathies

(2013) Tatyana A. Shelkovnikova et al.   HUMAN MOLECULAR GENETICS

TDP-43 frontotemporal lobar degeneration and autoimmune disease

(2013) Z. A. Miller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

Interaction of FUS and HDAC1 regulates DNA damage response and repair in neurons

(2013) Wen-Yuan Wang et al.   NATURE NEUROSCIENCE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

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

(2013) Shuo-Chien Ling et al.   NEURON

Patterns of microglial cell activation in frontotemporal lobar degeneration

(2013) Suzannah B. Lant et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

(2013) K. Mori et al.   SCIENCE

Frontotemporal Dementia

(2013) Bruce Miller et al.   SEMINARS IN NEUROLOGY

Identification of In Vivo, Conserved, TAF15 RNA Binding Sites Reveals the Impact of TAF15 on the Neuronal Transcriptome

(2013) Fadia Ibrahim et al.   Cell Reports

The genetics and neuropathology of frontotemporal lobar degeneration

(2012) Anne Sieben et al.   ACTA NEUROPATHOLOGICA

Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects

(2012) Glenda Halliday et al.   ACTA NEUROPATHOLOGICA

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients

(2012) Mahlon Collins et al.   ACTA NEUROPATHOLOGICA

Frontotemporal degeneration, the next therapeutic frontier: Molecules and animal models for frontotemporal degeneration drug development

(2012) Adam L. Boxer et al.   Alzheimers & Dementia

Misregulated RNA processing in amyotrophic lateral sclerosis

(2012) Magdalini Polymenidou et al.   BRAIN RESEARCH

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

Progranulin antibodies in autoimmune diseases

(2012) Lorenz Thurner et al.   JOURNAL OF AUTOIMMUNITY

Roles of Ataxin-2 in Pathological Cascades Mediated by TAR DNA-binding Protein 43 (TDP-43) and Fused in Sarcoma (FUS)

(2012) Yoshihiro Nihei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Transcriptomics: mRNA and alternative splicing

(2012) Alex Sánchez-Pla et al.   JOURNAL OF NEUROIMMUNOLOGY

p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

(2012) Kunikazu Tanji et al.   JOURNAL OF NEUROSCIENCE RESEARCH

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Optineurin is potentially associated with TDP-43 and involved in the pathogenesis of inclusion body myositis

(2012) S. Yamashita et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

A harmonized classification system for FTLD-TDP pathology

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

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

(2011) Manuela Neumann et al.   BRAIN

FET proteins in frontotemporal dementia and amyotrophic lateral sclerosis

(2011) Ian R.A. Mackenzie et al.   BRAIN RESEARCH

Molecular Dissection of TDP-43 Proteinopathies

(2011) Masato Hasegawa et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Adenosine Receptor Signaling Modulates Permeability of the Blood-Brain Barrier

(2011) A. J. Carman 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

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

Encephalitis and antibodies to synaptic and neuronal cell surface proteins

(2011) E. Lancaster et al.   NEUROLOGY

TDP-43 Regulates Drosophila Neuromuscular Junctions Growth by Modulating Futsch/MAP1B Levels and Synaptic Microtubules Organization

(2011) Vinay K. Godena 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

Distinct pathological subtypes of FTLD-FUS

(2010) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease

(2010) Agnes A. Luty et al.   ANNALS OF NEUROLOGY

Amyotrophic Lateral Sclerosis-associated Proteins TDP-43 and FUS/TLS Function in a Common Biochemical Complex to Co-regulate HDAC6 mRNA

(2010) Sang Hwa Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Andrew C. Elden et al.   NATURE

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

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

CD73 is required for efficient entry of lymphocytes into the central nervous system during experimental autoimmune encephalomyelitis

(2008) J. H. Mills et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA