Review: Modelling the pathology and behaviour of frontotemporal dementia

Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD

(2018) Thomas G. Moens et al.   ACTA NEUROPATHOLOGICA

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

(2018) Bart Swinnen et al.   ACTA NEUROPATHOLOGICA

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

Depletion of Ubiquilin induces an augmentation in soluble ubiquitinated Drosophila TDP-43 to drive neurotoxicity in the fly

(2018) Salinee Jantrapirom et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A new framework for conceptualizing symptoms in frontotemporal dementia: from animal models to the clinic

(2018) Stephanie Wong et al.   BRAIN

FUS causes synaptic hyperexcitability in Drosophila dendritic arborization neurons

(2018) James B. Machamer et al.   BRAIN RESEARCH

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

(2018) Pietro Fratta et al.   EMBO JOURNAL

C9orf72 is essential for neurodevelopment and motility mediated by Cyclin G1

(2018) Tu-Hsueh Yeh et al.   EXPERIMENTAL NEUROLOGY

The pro-apoptotic JNK scaffold POSH/SH3RF1 mediates CHMP2BIntron5-associated toxicity in animal models of frontotemporal dementia

(2018) Ryan J H West et al.   HUMAN MOLECULAR GENETICS

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model

(2018) Amrutha Swaminathan et al.   HUMAN MOLECULAR GENETICS

Progranulin Gene Therapy Improves Lysosomal Dysfunction and Microglial Pathology Associated with Frontotemporal Dementia and Neuronal Ceroid Lipofuscinosis

(2018) Andrew E. Arrant et al.   JOURNAL OF NEUROSCIENCE

CRISPR–Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity

(2018) Nicholas J. Kramer et al.   NATURE GENETICS

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

(2018) Yong-Jie Zhang 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

Murine knockin model for progranulin-deficient frontotemporal dementia with nonsense-mediated mRNA decay

(2018) Andrew D. Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Protein Phase Separation: A New Phase in Cell Biology

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

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

(2018) Daniel A Solomon et al.   BRAIN

Repeat associated non-ATG (RAN) translation

(2018) John Douglas Cleary et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS

(2018) Jone López-Erauskin et al.   NEURON

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

(2017) Youn-Bok Lee et al.   HUMAN MOLECULAR GENETICS

Mutation-dependent aggregation and toxicity in a Drosophila model for UBQLN2-associated ALS

(2017) Sang Hwa Kim et al.   HUMAN MOLECULAR GENETICS

Nuclear localized C9orf72-associated arginine-containing dipeptides exhibit age-dependent toxicity in C. elegans

(2017) Paige Rudich et al.   HUMAN MOLECULAR GENETICS

Selective depletion of microglial progranulin in mice is not sufficient to cause neuronal ceroid lipofuscinosis or neuroinflammation

(2017) Terri L. Petkau et al.   Journal of Neuroinflammation

Genetic screening in sporadic ALS and FTD

(2017) Martin R Turner et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration

(2017) Yu Ohki et al.   Molecular Neurodegeneration

Mouse models of frontotemporal dementia: A comparison of phenotypes with clinical symptomatology

(2017) Rebekah M. Ahmed et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

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

C9orf72: At the intersection of lysosome cell biology and neurodegenerative disease

(2017) Joseph Amick et al.   TRAFFIC

Mouse Models of C9orf72 Hexanucleotide Repeat Expansion in Amyotrophic Lateral Sclerosis/ Frontotemporal Dementia

(2017) Ranjan Batra et al.   Frontiers in Cellular Neuroscience

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

(2017) Shinsuke Ishigaki et al.   Cell Reports

Lipidomic and Transcriptomic Basis of Lysosomal Dysfunction in Progranulin Deficiency

(2017) Bret M. Evers et al.   Cell Reports

Valosin-containing protein (VCP/p97) inhibitors relieve Mitofusin-dependent mitochondrial defects due to VCP disease mutants

(2017) Ting Zhang et al.   eLife

Dendritic Homeostasis Disruption in a Novel Frontotemporal Dementia Mouse Model Expressing Cytoplasmic Fused in Sarcoma

(2017) Gen Shiihashi et al.   EBioMedicine

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

(2017) Sarah Mizielinska et al.   Acta Neuropathologica Communications

Neurotrophic effects of progranulin in vivo in reversing motor neuron defects caused by over or under expression of TDP-43 or FUS

(2017) Babykumari P. Chitramuthu et al.   PLoS One

FUS toxicity is rescued by the modulation of lncRNA hsrω expression in Drosophila melanogaster

(2017) Luca Lo Piccolo et al.   Scientific Reports

Full ablation of C9orf72 in mice causes immune system-related pathology and neoplastic events but no motor neuron defects

(2016) Emma Sudria-Lopez et al.   ACTA NEUROPATHOLOGICA

Inside out: the role of nucleocytoplasmic transport in ALS and FTLD

(2016) Steven Boeynaems et al.   ACTA NEUROPATHOLOGICA

Catastrophic cliffs: a partial suggestion for selective vulnerability in neurodegenerative diseases

(2016) John Hardy   BIOCHEMICAL SOCIETY TRANSACTIONS

Mislocated FUS is sufficient for gain-of-toxic-function amyotrophic lateral sclerosis phenotypes in mice

(2016) Gen Shiihashi et al.   BRAIN

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

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

(2016) Kyung-Ha Lee 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

Progranulin haploinsufficiency causes biphasic social dominance abnormalities in the tube test

(2016) A. E. Arrant et al.   GENES BRAIN AND BEHAVIOR

A transgenic mouse expressing CHMP2Bintron5mutant in neurons develops histological and behavioural features of amyotrophic lateral sclerosis and frontotemporal dementia

(2016) Aurélia Vernay et al.   HUMAN MOLECULAR GENETICS

The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission Properties

(2016) Yu-Jen Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Increased Ubqln2 expression causes neuron death in transgenic rats

(2016) Bo Huang 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

Selective vulnerability in neurodegeneration: insights from clinical variants of Alzheimer's disease

(2016) Niklas Mattsson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Selective Motor Neuron Resistance and Recovery in a New Inducible Mouse Model of TDP-43 Proteinopathy

(2016) K. J. Spiller et al.   JOURNAL OF NEUROSCIENCE

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

(2016) Yong-Jie Zhang et al.   NATURE NEUROSCIENCE

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

(2016) Yuanjing Liu et al.   NEURON

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

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

Characterization of genetic loss-of-function of Fus in zebrafish

(2016) Svetlana Lebedeva et al.   RNA Biology

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

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

(2016) N. J. Kramer et al.   SCIENCE

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease

(2016) Aaron Burberry et al.   Science Translational Medicine

Early Impairment of Synaptic and Intrinsic Excitability in Mice Expressing ALS/Dementia-Linked Mutant UBQLN2

(2016) Daniel Radzicki et al.   Frontiers in Cellular Neuroscience

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

(2016) Aarti Sharma et al.   Nature Communications

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

(2016) Janet Ugolino et al.   PLoS Genetics

Forward Genetic Screen in Caenorhabditis elegans Suggests F57A10.2 and acp-4 As Suppressors of C9ORF72 Related Phenotypes

(2016) Xin Wang et al.   Frontiers in Molecular Neuroscience

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

(2016) Peter M. Sullivan et al.   Acta Neuropathologica Communications

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

(2016) Steven Boeynaems et al.   Scientific Reports

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

(2016) Amanda Atanasio et al.   Scientific Reports

Short-term suppression of A315T mutant human TDP-43 expression improves functional deficits in a novel inducible transgenic mouse model of FTLD-TDP and ALS

(2015) Yazi D. Ke et al.   ACTA NEUROPATHOLOGICA

Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology

(2015) Emma L. Clayton 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

FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

(2015) Dejun Yang et al.   ACTA NEUROPATHOLOGICA

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

The Progranulin Cleavage Products, Granulins, Exacerbate TDP-43 Toxicity and Increase TDP-43 Levels

(2015) D. A. Salazar et al.   JOURNAL OF NEUROSCIENCE

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

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

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Demencia frontotemporal variante conductual: biomarcadores, una aproximación a la enfermedad

(2015) M. Fernández-Matarrubia et al.   NEUROLOGIA

Human C9ORF72 Hexanucleotide Expansion Reproduces RNA Foci and Dipeptide Repeat Proteins but Not Neurodegeneration in BAC Transgenic Mice

(2015) Owen M. Peters et al.   NEURON

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

(2015) Jacqueline G. O’Rourke et al.   NEURON

Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA

(2015) A. C. Woerner et al.   SCIENCE

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

(2015) J. Chew et al.   SCIENCE

FUS regulates AMPA receptor function and FTLD/ALS-associated behaviour via GluA1 mRNA stabilization

(2015) Tsuyoshi Udagawa et al.   Nature Communications

GGGGCC microsatellite RNA is neuritically localized, induces branching defects, and perturbs transport granule function

(2015) Alondra Schweizer Burguete et al.   eLife

VCP-dependent muscle degeneration is linked to defects in a dynamic tubular lysosomal network in vivo

(2015) Alyssa E Johnson et al.   eLife

Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS

(2015) Jacqueline C Mitchell et al.   Acta Neuropathologica Communications

FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis

(2015) Yoshihiro Kino et al.   Acta Neuropathologica Communications

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

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

UBQLN2mutation causing heterogeneous X-linked dominant neurodegeneration

(2014) Akl C. Fahed et al.   ANNALS OF NEUROLOGY

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

(2014) Sarah Mizielinska et al.   CURRENT OPINION IN NEUROLOGY

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

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

The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis

(2014) H. Meyer et al.   JOURNAL OF CELL SCIENCE

ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects

(2014) Haiyan Qiu et al.   JOURNAL OF CLINICAL INVESTIGATION

Reversible Behavioral Phenotypes in a Conditional Mouse Model of TDP-43 Proteinopathies

(2014) J. A. Alfieri et al.   JOURNAL OF NEUROSCIENCE

Alterations in microRNA-124 and AMPA receptors contribute to social behavioral deficits in frontotemporal dementia

(2014) Eduardo Gascon et al.   NATURE MEDICINE

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

Divergent Phenotypes in Mutant TDP-43 Transgenic Mice Highlight Potential Confounds in TDP-43 Transgenic Modeling

(2014) Simon D’Alton et al.   PLoS One

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

Activity-dependent FUS dysregulation disrupts synaptic homeostasis

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

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

Progranulin in neurodegenerative disease

(2014) Terri L. Petkau et al.   TRENDS IN NEUROSCIENCES

HDAC6 Is a Bruchpilot Deacetylase that Facilitates Neurotransmitter Release

(2014) Katarzyna Miskiewicz et al.   Cell Reports

Possible involvement of lysosomal dysfunction in pathological changes of the brain in aged progranulin-deficient mice

(2014) Yoshinori Tanaka et al.   Acta Neuropathologica Communications

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci

(2013) Sarah Mizielinska et al.   ACTA NEUROPATHOLOGICA

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Neuronal-Specific Overexpression of a Mutant Valosin-Containing Protein Associated with IBMPFD Promotes Aberrant Ubiquitin and TDP-43 Accumulation and Cognitive Dysfunction in Transgenic Mice

(2013) Carlos J. Rodriguez-Ortiz et al.   AMERICAN JOURNAL OF PATHOLOGY

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

(2013) John Hardy et al.   EXPERIMENTAL NEUROLOGY

Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes

(2013) Danielle C. Diaper et al.   HUMAN MOLECULAR GENETICS

Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS

(2013) Gary A.B. Armstrong et al.   HUMAN MOLECULAR GENETICS

Drosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLD

(2013) Danielle C. Diaper et al.   HUMAN MOLECULAR GENETICS

Dissociation of Frontotemporal Dementia-Related Deficits and Neuroinflammation in Progranulin Haploinsufficient Mice

(2013) A. J. Filiano et al.   JOURNAL OF NEUROSCIENCE

Overexpression of ALS-Associated p.M337V Human TDP-43 in Mice Worsens Disease Features Compared to Wild-type Human TDP-43 Mice

(2013) Jonathan Janssens et al.   MOLECULAR NEUROBIOLOGY

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

Deletion of C9ORF72 Results in Motor Neuron Degeneration and Stress Sensitivity in C. elegans

(2013) Martine Therrien et al.   PLoS One

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43

(2013) E. S. Arnold et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) K. Mori et al.   SCIENCE

TDP-43 Loss-of-Function Causes Neuronal Loss Due to Defective Steroid Receptor-Mediated Gene Program Switching in Drosophila

(2013) Lies Vanden Broeck 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

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Transportin 1 accumulates specifically with FET proteins but no other transportin cargos in FTLD-FUS and is absent in FUS inclusions in ALS with FUS mutations

(2012) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

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

A role for sequestosome 1/p62 in mitochondrial dynamics, import and genome integrity

(2012) M. Lamar Seibenhener et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice

(2012) Shabnam Ghazi-Noori et al.   BRAIN

Episodic memory in frontotemporal dementia: a critical review

(2012) M. Hornberger et al.   BRAIN

Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS

(2012) Dorothee Dormann et al.   EMBO JOURNAL

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

Progranulin deficiency promotes neuroinflammation and neuron loss following toxin-induced injury

(2012) Lauren Herl Martens et al.   JOURNAL OF CLINICAL INVESTIGATION

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis

(2012) Christophe Verbeeck et al.   Molecular Neurodegeneration

A progressive translational mouse model of human valosin-containing protein disease: TheVCPR155H/+mouse

(2012) Angèle Nalbandian et al.   MUSCLE & NERVE

Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype

(2012) Matthis Synofzik et al.   NEUROBIOLOGY OF AGING

The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology

(2012) Angèle Nalbandian et al.   PLoS One

Slow development of ALS-like spinal cord pathology in mutant valosin-containing protein gene knock-in mice

(2012) H Z Yin et al.   Cell Death & Disease

Transportin1: a marker of FTLD-FUS

(2011) Jack Brelstaff et al.   ACTA NEUROPATHOLOGICA

Cognitive Decline Typical of Frontotemporal Lobar Degeneration in Transgenic Mice Expressing the 25-kDa C-Terminal Fragment of TDP-43

(2011) Antonella Caccamo et al.   AMERICAN JOURNAL OF PATHOLOGY

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

(2011) Julie van der Zee et al.   BRAIN

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

FTD and ALS: A Tale of Two Diseases

(2011) R. Ferrari et al.   Current Alzheimer Research

A Drosophila model of FUS-related neurodegeneration reveals genetic interaction between FUS and TDP-43

(2011) N. A. Lanson et al.   HUMAN MOLECULAR GENETICS

Charged Multivesicular Body Protein 2B (CHMP2B) of the Endosomal Sorting Complex Required for Transport-III (ESCRT-III) Polymerizes into Helical Structures Deforming the Plasma Membrane

(2011) Gilles Bodon 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

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

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

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Synaptic dysfunction in progranulin-deficient mice

(2011) Terri L. Petkau et al.   NEUROBIOLOGY OF DISEASE

Core features of frontotemporal dementia recapitulated in progranulin knockout mice

(2011) N. Ghoshal et al.   NEUROBIOLOGY OF DISEASE

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

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

(2011) Alan E. Renton et al.   NEURON

Age-Related Impairment of Ultrasonic Vocalization in Tau.P301L Mice: Possible Implication for Progressive Language Disorders

(2011) Clément Menuet et al.   PLoS One

TDP-43 and FUS: a nuclear affair

(2011) Dorothee Dormann et al.   TRENDS IN NEUROSCIENCES

FUS Transgenic Rats Develop the Phenotypes of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration

(2011) Cao Huang et al.   PLoS Genetics

Expression of human FUS protein in Drosophila leads to progressive neurodegeneration

(2011) Yanbo Chen et al.   Protein & Cell

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

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

Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging

(2010) Zeshan Ahmed et al.   AMERICAN JOURNAL OF PATHOLOGY

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

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Behavioral deficits and progressive neuropathology in progranulin-deficient mice: a mouse model of frontotemporal dementia

(2010) Fangfang Yin et al.   FASEB JOURNAL

Neurotoxic effects of TDP-43 overexpression in C. elegans

(2010) Peter E.A. Ash et al.   HUMAN MOLECULAR GENETICS

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

(2010) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

Elevated expression of TDP-43 in the forebrain of mice is sufficient to cause neurological and pathological phenotypes mimicking FTLD-U

(2010) Kuen-Jer Tsai et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

(2010) H. Seelaar et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TDP-43 Mediates Degeneration in a Novel Drosophila Model of Disease Caused by Mutations in VCP/p97

(2010) G. P. Ritson 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

p62, an autophagy hero or culprit?

(2010) Tor Erik Rusten et al.   NATURE CELL BIOLOGY

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

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

Progressive motor weakness in transgenic mice expressing human TDP-43

(2010) Nancy R. Stallings et al.   NEUROBIOLOGY OF DISEASE

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Progranulin is Neurotrophic In Vivo and Protects against a Mutant TDP-43 Induced Axonopathy

(2010) Angela S. Laird et al.   PLoS One

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

Deletion of TDP-43 down-regulates Tbc1d1, a gene linked to obesity, and alters body fat metabolism

(2010) P.-M. Chiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

(2010) Hans Wils et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transgenic Rat Model of Neurodegeneration Caused by Mutation in the TDP Gene

(2010) Hongxia Zhou et al.   PLoS Genetics

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2009) Edor Kabashi et al.   HUMAN MOLECULAR GENETICS

Mutation withinTARDBPleads to Frontotemporal Dementia without motor neuron disease

(2009) B. Borroni et al.   HUMAN MUTATION

Recent advances in understanding the molecular basis of Paget disease of bone

(2009) A Goode et al.   JOURNAL OF CLINICAL PATHOLOGY

Exaggerated inflammation, impaired host defense, and neuropathology in progranulin-deficient mice

(2009) Fangfang Yin et al.   JOURNAL OF EXPERIMENTAL MEDICINE

FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis

(2009) I. P. Blair et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TARDBP variation associated with frontotemporal dementia, supranuclear gaze palsy, and chorea

(2009) Gabor G. Kovacs et al.   MOVEMENT DISORDERS

Behavioural battery testing: Evaluation and behavioural outcomes in 8 inbred mouse strains

(2009) Heena Vanmalibhai Lad et al.   PHYSIOLOGY & BEHAVIOR

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

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic inactivation of p62 leads to accumulation of hyperphosphorylated tau and neurodegeneration

(2008) J. Ramesh Babu et al.   JOURNAL OF NEUROCHEMISTRY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE