Pathogenesis of FUS-associated ALS and FTD: insights from rodent models

Monomethylated and unmethylated FUS exhibit increased binding to Transportin and distinguish FTLD-FUS from ALS-FUS

(2016) Marc Suárez-Calvet et al.   ACTA NEUROPATHOLOGICA

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

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

(2016) Aarti Sharma et al.   Nature Communications

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects

(2016) James R. Priest et al.   PLoS Genetics

SnapShot: Genetics of ALS and FTD

(2015) Rita Guerreiro et al.   CELL

ALS mutations in TLS/FUS disrupt target gene expression

(2015) Tristan H. Coady et al.   GENES & DEVELOPMENT

Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import

(2015) S. Darovic et al.   JOURNAL OF CELL SCIENCE

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

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

Oligogenic inheritance of optineurin (OPTN) andC9ORF72mutations in ALS highlights localisation of OPTN in the TDP-43-negative inclusions ofC9ORF72-ALS

(2015) Joanna J. Bury et al.   NEUROPATHOLOGY

Early lethality and neuronal proteinopathy in mice expressing cytoplasm-targeted FUS that lacks the RNA recognition motif

(2015) Hannah K. Robinson et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

ALS-FUS pathology revisited: singleton FUS mutations and an unusual case with both a FUS and TARDBP mutation

(2015) Andrew King 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

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

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

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

FUS is Phosphorylated by DNA-PK and Accumulates in the Cytoplasm after DNA Damage

(2014) Q. Deng et al.   JOURNAL OF NEUROSCIENCE

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

(2014) Raffaele Ferrari et al.   LANCET NEUROLOGY

The role of FUS gene variants in neurodegenerative diseases

(2014) Hao Deng et al.   Nature Reviews Neurology

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

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

(2014) Louisa Kent et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Diagnosis and Management of Behavioral Variant Frontotemporal Dementia

(2013) Peter S. Pressman et al.   BIOLOGICAL PSYCHIATRY

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

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

(2013) Caroline Vance et al.   HUMAN MOLECULAR GENETICS

The RNA-binding Protein Fused in Sarcoma (FUS) Functions Downstream of Poly(ADP-ribose) Polymerase (PARP) in Response to DNA Damage

(2013) Adam S. Mastrocola et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fused in Sarcoma (FUS) Protein Lacking Nuclear Localization Signal (NLS) and Major RNA Binding Motifs Triggers Proteinopathy and Severe Motor Phenotype in Transgenic Mice

(2013) Tatyana A. Shelkovnikova et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Assessment of cognitive impairment in amyotrophic lateral sclerosis

(2013) F.J. Rodríguez de Rivera et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

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

25 years of neuroimaging in amyotrophic lateral sclerosis

(2013) Bradley R. Foerster et al.   Nature Reviews Neurology

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Deciphering amyotrophic lateral sclerosis: What phenotype, neuropathology and genetics are telling us about pathogenesis

(2013) John Ravits et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age- and dose-dependent fashion

(2012) Jacqueline C. Mitchell et al.   ACTA NEUROPATHOLOGICA

The molecular basis of the frontotemporal lobar degeneration–amyotrophic lateral sclerosis spectrum

(2012) Tim van Langenhove et al.   ANNALS OF MEDICINE

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN NEUROLOGY

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

(2012) Dorothee Dormann et al.   EMBO JOURNAL

RNA-binding ability of FUS regulates neurodegeneration, cytoplasmic mislocalization and incorporation into stress granules associated with FUS carrying ALS-linked mutations

(2012) J. G. Daigle et al.   HUMAN MOLECULAR GENETICS

Entorhinal cortical neurons are the primary targets of FUS mislocalization and ubiquitin aggregation in FUS transgenic rats

(2012) Cao Huang et al.   HUMAN MOLECULAR GENETICS

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

(2012) Marka van Blitterswijk et al.   HUMAN MOLECULAR GENETICS

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

Familial ALS with FUS P525L mutation: two Japanese sisters with multiple systems involvement

(2012) Yoko Mochizuki et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

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

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

(2012) Clotilde Lagier-Tourenne et al.   NATURE NEUROSCIENCE

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

(2012) Marka van Blitterswijk et al.   NEUROBIOLOGY OF AGING

TLS/FUS (translocated in liposarcoma/fused in sarcoma) regulates target gene transcription via single-stranded DNA response elements

(2012) A. Y. Tan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation

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

The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene

(2011) Julie S. Snowden et al.   ACTA NEUROPATHOLOGICA

Transportin1: a marker of FTLD-FUS

(2011) Jack Brelstaff et al.   ACTA NEUROPATHOLOGICA

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

(2011) Katya Rascovsky et al.   BRAIN

ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism

(2011) Tetsuro Murakami et al.   HUMAN MOLECULAR GENETICS

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

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

Arginine methylation by PRMT1 regulates nuclear-cytoplasmic localization and toxicity of FUS/TLS harbouring ALS-linked mutations

(2011) Miranda L. Tradewell et al.   HUMAN MOLECULAR GENETICS

FUS and TDP43 genetic variability in FTD and CBS

(2011) Edward D. Huey et al.   NEUROBIOLOGY OF AGING

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

A Yeast Model of FUS/TLS-Dependent Cytotoxicity

(2011) Shulin Ju et al.   PLOS BIOLOGY

FUS and TARDBP but Not SOD1 Interact in Genetic Models of Amyotrophic Lateral Sclerosis

(2011) Edor Kabashi et al.   PLoS Genetics

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

(2011) Cao Huang et al.   PLoS Genetics

Distinct pathological subtypes of FTLD-FUS

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

The epidemiology and treatment of ALS: Focus on the heterogeneity of the disease and critical appraisal of therapeutic trials

(2010) Ettore Beghi et al.   Amyotrophic Lateral Sclerosis

TLS and PRMT1 synergistically coactivate transcription at the survivin promoter through TLS arginine methylation

(2010) Kun Du et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Extensive FUS-Immunoreactive Pathology in Juvenile Amyotrophic Lateral Sclerosis with Basophilic Inclusions

(2010) Eric J. Huang et al.   BRAIN PATHOLOGY

Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules

(2010) Daryl A. Bosco et al.   HUMAN MOLECULAR GENETICS

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Fusgene mutations in familial and sporadic amyotrophic lateral sclerosis

(2010) Rosa Rademakers et al.   MUSCLE & NERVE

Genetic contribution of FUS to frontotemporal lobar degeneration

(2010) T. Van Langenhove et al.   NEUROLOGY

Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations

(2010) D. Baumer et al.   NEUROLOGY

Oligogenic basis of isolated gonadotropin-releasing hormone deficiency

(2010) G. P. Sykiotis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease

(2009) Manuela Neumann et al.   ACTA NEUROPATHOLOGICA

Multiple system degeneration with basophilic inclusions in Japanese ALS patients with FUS mutation

(2009) Takahisa Tateishi et al.   ACTA NEUROPATHOLOGICA

FUS pathology in basophilic inclusion body disease

(2009) David G. Munoz et al.   ACTA NEUROPATHOLOGICA

Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

(2009) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

(2009) L. Corrado et al.   JOURNAL OF MEDICAL GENETICS

Protein Arginine Methylation in Mammals: Who, What, and Why

(2009) Mark T. Bedford et al.   MOLECULAR CELL

Analysis of FUS gene mutation in familial amyotrophic lateral sclerosis within an Italian cohort

(2009) N. Ticozzi et al.   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

TDP-43A315T mutation in familial motor neuron disease

(2008) Michael A. Gitcho et al.   ANNALS OF NEUROLOGY

The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response

(2008) Mattias K Andersson et al.   BMC CELL BIOLOGY

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE