FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention

Loss of Nuclear TDP-43 Is Associated with Decondensation of LINE Retrotransposons

(2019) Elaine Y. Liu et al.   Cell Reports

Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis

(2019) Shuo-Chien Ling et al.   eLife

Widespread FUS mislocalization is a molecular hallmark of amyotrophic lateral sclerosis

(2019) Giulia E Tyzack et al.   BRAIN

Atlas of Subcellular RNA Localization Revealed by APEX-Seq

(2019) Furqan M. Fazal et al.   CELL

The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis

(2018) Pietro Fratta et al.   BRAIN

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

(2018) Pietro Fratta et al.   EMBO JOURNAL

A Regulatory Circuitry Between Gria2, miR-409, and miR-495 Is Affected by ALS FUS Mutation in ESC-Derived Motor Neurons

(2018) Davide Capauto et al.   MOLECULAR NEUROBIOLOGY

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

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

(2018) Raphaelle Luisier et al.   Nature Communications

Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

(2018) Vivek Swarup et al.   NATURE MEDICINE

Intron retention as a component of regulated gene expression programs

(2017) Aishwarya G. Jacob et al.   HUMAN GENETICS

Progressive Motor Neuron Pathology and the Role of Astrocytes in a Human Stem Cell Model of VCP-Related ALS

(2017) Claire E. Hall et al.   Cell Reports

A dynamic intron retention program in the mammalian megakaryocyte and erythrocyte lineages

(2016) C. R. Edwards et al.   BLOOD

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

(2016) Gen Shiihashi et al.   BRAIN

Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis

(2016) Yulei Shang et al.   BRAIN RESEARCH

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

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Increased cytoplasmicTARDBPmRNA in affected spinal motor neurons in ALS caused by abnormal autoregulation of TDP-43

(2016) Akihide Koyama et al.   NUCLEIC ACIDS RESEARCH

POSTAR: a platform for exploring post-transcriptional regulation coordinated by RNA-binding proteins

(2016) Boqin Hu et al.   NUCLEIC ACIDS RESEARCH

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

Position-specific binding of FUS to nascent RNA regulates mRNA length

(2015) Akio Masuda et al.   GENES & DEVELOPMENT

Detained introns are a novel, widespread class of post-transcriptionally spliced introns

(2015) Paul L. Boutz et al.   GENES & DEVELOPMENT

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

Regulated Intron Retention and Nuclear Pre-mRNA Decay Contribute toPABPN1Autoregulation

(2015) Danny Bergeron et al.   MOLECULAR AND CELLULAR BIOLOGY

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

An age-related reduction of brain TBPH/TDP-43 levels precedes the onset of locomotion defects in a Drosophila ALS model

(2015) L. Cragnaz et al.   NEUROSCIENCE

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

(2015) Yong Yu et al.   NUCLEIC ACIDS RESEARCH

Xistimprinting is promoted by the hemizygous (unpaired) state in the male germ line

(2015) Sha Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FUS functions in coupling transcription to splicing by mediating an interaction between RNAP II and U1 snRNP

(2015) Yong Yu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

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

(2015) Yoshihiro Kino et al.   Acta Neuropathologica Communications

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

(2014) Evangelos Kiskinis et al.   Cell Stem Cell

Rbfox2 controls autoregulation in RNA-binding protein networks

(2014) M. Jangi et al.   GENES & DEVELOPMENT

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

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

Loss of TDP-43 causes age-dependent progressive motor neuron degeneration

(2013) Yohei Iguchi et al.   BRAIN

Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43

(2013) Peter J Lukavsky et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

(2013) Shuo-Chien Ling et al.   NEURON

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

ALS-Associated FUS Mutations Result in Compromised FUS Alternative Splicing and Autoregulation

(2013) Yueqin Zhou et al.   PLoS Genetics

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

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

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

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

Position-dependent FUS-RNA interactions regulate alternative splicing events and transcriptions

(2012) Shinsuke Ishigaki et al.   Scientific Reports

Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain

(2012) Boris Rogelj et al.   Scientific Reports

Integrative Genome-wide Analysis Reveals Cooperative Regulation of Alternative Splicing by hnRNP Proteins

(2012) Stephanie C. Huelga et al.   Cell Reports

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

(2011) N. Ticozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

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

(2010) Youhna M Ayala et al.   EMBO JOURNAL

ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import

(2010) Dorothee Dormann et al.   EMBO JOURNAL

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

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

Cytoplasmic Mislocalization of TDP-43 Is Toxic to Neurons and Enhanced by a Mutation Associated with Familial Amyotrophic Lateral Sclerosis

(2010) S. J. Barmada et al.   JOURNAL OF NEUROSCIENCE

Analysis and design of RNA sequencing experiments for identifying isoform regulation

(2010) Yarden Katz et al.   NATURE METHODS

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

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice

(2010) X. Shan 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

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

TDP-43 Is a Developmentally Regulated Protein Essential for Early Embryonic Development

(2009) Chantelle F. Sephton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Auto- and Cross-Regulation of the hnRNP L Proteins by Alternative Splicing

(2009) O. Rossbach et al.   MOLECULAR AND CELLULAR BIOLOGY

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

(2009) Adriano Chiò et al.   NEUROBIOLOGY OF AGING

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

(2009) I. Wegorzewska 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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense?

(2008) Nicholas J. McGlincy et al.   TRENDS IN BIOCHEMICAL SCIENCES