RNA-binding proteins in neurodegeneration: mechanisms in aggregate

Different aggregation states of a nuclear localization signal-tagged 25-kDa C-terminal fragment of TAR RNA/DNA-binding protein 43 kDa

(2017) Akira Kitamura et al.   GENES TO CELLS

Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions

(2017) Ginny R. Morriss et al.   HUMAN GENETICS

Pseudouridine Modification Inhibits Muscleblind-like 1 (MBNL1) Binding to CCUG Repeats and Minimally Structured RNA through Reduced RNA Flexibility

(2017) Elaine deLorimier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Splicing regulation and dysregulation of cholinergic genes expressed at the neuromuscular junction

(2017) Kinji Ohno et al.   JOURNAL OF NEUROCHEMISTRY

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

(2017) Lindsay A. Becker et al.   NATURE

Spinal muscular atrophy: Factors that modulate motor neurone vulnerability

(2017) Wen-Yo Tu et al.   NEUROBIOLOGY OF DISEASE

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

(2017) Mohini Jangi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease

(2017) Natalia Rodriguez-Muela et al.   Cell Reports

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS

(2017) Philippe Corcia et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

RNA toxicity induced by expanded CAG repeats in Huntington's disease

(2016) Eulàlia Martí   BRAIN PATHOLOGY

Prion-like domains as epigenetic regulators, scaffolds for subcellular organization, and drivers of neurodegenerative disease

(2016) Zachary M. March et al.   BRAIN RESEARCH

Mechanisms of FUS mutations in familial amyotrophic lateral sclerosis

(2016) Yulei Shang et al.   BRAIN RESEARCH

RAN translation—What makes it run?

(2016) Katelyn M. Green et al.   BRAIN RESEARCH

Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers

(2016) Yi Lin et al.   CELL

Spinocerebellar ataxia: relationship between phenotype and genotype - a review

(2016) Y.-M. Sun et al.   CLINICAL GENETICS

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

TDP-43 binds and transports G-quadruplex-containing mRNAs into neurites for local translation

(2016) Akira Ishiguro et al.   GENES TO CELLS

Irregular G-quadruplexes Found in the Untranslated Regions of Human mRNAs Influence Translation

(2016) François Bolduc et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Atypical parkinsonism in C9orf72 expansions: a case report and systematic review of 45 cases from the literature

(2016) Carlo Wilke et al.   JOURNAL OF NEUROLOGY

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Phasing in and out

(2016) James Shorter   Nature Chemistry

Membraneless organelles can melt nucleic acid duplexes and act as biomolecular filters

(2016) Timothy J. Nott et al.   Nature Chemistry

The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

(2016) Aaron R. Haeusler et al.   NATURE REVIEWS NEUROSCIENCE

A U1 snRNP–specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange

(2016) Byung Ran So et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review

(2016) L. J. Schipper et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

(2016) Thomas Koed Doktor et al.   NUCLEIC ACIDS RESEARCH

High-throughput analyses of hnRNP H1 dissects its multi-functional aspect

(2016) Philip J. Uren et al.   RNA Biology

Role of FET proteins in neurodegenerative disorders

(2016) Francesca Svetoni et al.   RNA Biology

RNA G-quadruplexes are globally unfolded in eukaryotic cells and depleted in bacteria

(2016) J. U. Guo 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

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

(2016) Aarti Sharma et al.   Nature Communications

A U1 snRNP–specific assembly pathway reveals the SMN complex as a versatile hub for RNP exchange

(2016) Byung Ran So et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72 -ALS/FTD

(2016) Thomas Westergard et al.   Cell Reports

RNA-binding proteins implicated in neurodegenerative diseases

(2016) Mark R Cookson   Wiley Interdisciplinary Reviews-RNA

Neurodegeneration and RNA-binding proteins

(2016) Laura De Conti et al.   Wiley Interdisciplinary Reviews-RNA

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

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

(2016) Matthew Nolan et al.   Acta Neuropathologica Communications

Interaction of RNA with a C-terminal fragment of the amyotrophic lateral sclerosis-associated TDP43 reduces cytotoxicity

(2016) Akira Kitamura et al.   Scientific Reports

Phase Separation by Low Complexity Domains Promotes Stress Granule Assembly and Drives Pathological Fibrillization

(2015) Amandine Molliex et al.   CELL

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

(2015) Avinash Patel et al.   CELL

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

(2015) Chiara Simone et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The function of RNA-binding proteins at the synapse: implications for neurodegeneration

(2015) Chantelle F. Sephton et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome

(2015) Roberto Simone et al.   FEBS LETTERS

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

(2015) Akio Masuda et al.   GENES & DEVELOPMENT

ALS mutations in TLS/FUS disrupt target gene expression

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

Structural Evidence of Amyloid Fibril Formation in the Putative Aggregation Domain of TDP-43

(2015) Miguel Mompeán et al.   Journal of Physical Chemistry Letters

It’s Raining Liquids: RNA Tunes Viscoelasticity and Dynamics of Membraneless Organelles

(2015) Lin Guo et al.   MOLECULAR CELL

RNA Controls PolyQ Protein Phase Transitions

(2015) Huaiying Zhang et al.   MOLECULAR CELL

SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination

(2015) Dorothy Yanling Zhao et al.   NATURE

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

(2015) Harrison W. Gabel et al.   NATURE

Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS

(2015) Mercedes Prudencio et al.   NATURE NEUROSCIENCE

Polymer physics of intracellular phase transitions

(2015) Clifford P. Brangwynne et al.   Nature Physics

Spreading of pathology in neurodegenerative diseases: a focus on human studies

(2015) Johannes Brettschneider et al.   NATURE REVIEWS NEUROSCIENCE

Gene Length Matters in Neurons

(2015) Mark J. Zylka et al.   NEURON

ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function

(2015) Tetsuro Murakami et al.   NEURON

RNA Structures as Mediators of Neurological Diseases and as Drug Targets

(2015) Viachaslau Bernat et al.   NEURON

A Cellular Perspective on Brain Energy Metabolism and Functional Imaging

(2015) Pierre J. Magistretti et al.   NEURON

Nucleic acid-binding specificity of human FUS protein

(2015) Xueyin Wang et al.   NUCLEIC ACIDS RESEARCH

Crystal structure reveals specific recognition of a G-quadruplex RNA by a β-turn in the RGG motif of FMRP

(2015) Nikita Vasilyev 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

RNA-binding proteins in neurodegeneration: Seq and you shall receive

(2015) Julia K. Nussbacher et al.   TRENDS IN NEUROSCIENCES

The cleavage pattern of TDP-43 determines its rate of clearance and cytotoxicity

(2015) Quan Li et al.   Nature Communications

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration

(2015) Jorge Gomez-Deza et al.   Acta Neuropathologica Communications

FMRP interacts with G-quadruplex structures in the 3’-UTR of its dendritic target Shank1 mRNA

(2015) Yang Zhang et al.   RNA Biology

The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype

(2014) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders

(2014) John Douglas Cleary et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The many faces of autophagy dysfunction in Huntington's disease: from mechanism to therapy

(2014) Constanza J. Cortes et al.   DRUG DISCOVERY TODAY

DNA and RNA Quadruplex-Binding Proteins

(2014) Václav Brázda et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

ALS-Linked Mutations Enlarge TDP-43-Enriched Neuronal RNA Granules in the Dendritic Arbor

(2014) L. Liu-Yesucevitz et al.   JOURNAL OF NEUROSCIENCE

Direct Binding of Ataxin-2 to Distinct Elements in 3′ UTRs Promotes mRNA Stability and Protein Expression

(2014) Moe Yokoshi et al.   MOLECULAR CELL

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

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

Toward Functional Classification of Neuronal Types

(2014) Tatyana O. Sharpee   NEURON

Repeat-Associated Non-AUG Translation and Its Impact in Neurodegenerative Disease

(2014) Michael G. Kearse et al.   Neurotherapeutics

Presynaptic Localization of Smn and hnRNP R in Axon Terminals of Embryonic and Postnatal Mouse Motoneurons

(2014) Benjamin Dombert et al.   PLoS One

G quadruplex RNA structures in PSD-95 mRNA: potential regulators of miR-125a seed binding site accessibility

(2014) Snezana Stefanovic et al.   RNA

Subcellular transcriptome alterations in a cell culture model of spinal muscular atrophy point to widespread defects in axonal growth and presynaptic differentiation

(2014) Lena Saal et al.   RNA

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

(2014) S. Mizielinska et al.   SCIENCE

RNA-binding proteins in neurological diseases

(2014) HuaLin Zhou et al.   Science China-Life Sciences

Full-length TDP-43 forms toxic amyloid oligomers that are present in frontotemporal lobar dementia-TDP patients

(2014) Yu-Sheng Fang et al.   Nature Communications

Structure of the Myotonic Dystrophy Type 2 RNA and Designed Small Molecules That Reduce Toxicity

(2013) Jessica L. Childs-Disney et al.   ACS Chemical Biology

Protein aggregation in amyotrophic lateral sclerosis

(2013) Anna M. Blokhuis et al.   ACTA NEUROPATHOLOGICA

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Roles of long noncoding RNAs in brain development, functional diversification and neurodegenerative diseases

(2013) Ping Wu et al.   BRAIN RESEARCH BULLETIN

Compound loss of muscleblind-like function in myotonic dystrophy

(2013) Kuang-Yung Lee et al.   EMBO Molecular Medicine

Role of Stress Granules and RNA-Binding Proteins in Neurodegeneration: A Mini-Review

(2013) Tara Vanderweyde et al.   GERONTOLOGY

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

Amyotrophic lateral sclerosis-linked FUS/TLS alters stress granule assembly and dynamics

(2013) Desiree M Baron et al.   Molecular Neurodegeneration

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

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

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

The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

(2013) Daniela Galimberti et al.   NEUROBIOLOGY OF AGING

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

(2013) Shuo-Chien Ling et al.   NEURON

TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis?

(2013) Lies Vanden Broeck et al.   TRENDS IN MOLECULAR MEDICINE

Mechanisms of RNA-induced toxicity in CAG repeat disorders

(2013) R Nalavade et al.   Cell Death & Disease

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Multiple knockout mouse models reveal lincRNAs are required for life and brain development

(2013) Martin Sauvageau et al.   eLife

Rationally Designed Small Molecules Targeting the RNA That Causes Myotonic Dystrophy Type 1 Are Potently Bioactive

(2012) Jessica L. Childs-Disney et al.   ACS Chemical Biology

The genetics and neuropathology of amyotrophic lateral sclerosis

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

Novel FUS Deletion in a Patient With Juvenile Amyotrophic Lateral Sclerosis

(2012) Jean-Sébastien Langlais   ARCHIVES OF NEUROLOGY

Role of selected mutations in the Q/N rich region of TDP-43 in EGFP-12xQ/N-induced aggregate formation

(2012) Mauricio Budini et al.   BRAIN RESEARCH

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

Cell-free Formation of RNA Granules: Low Complexity Sequence Domains Form Dynamic Fibers within Hydrogels

(2012) Masato Kato et al.   CELL

Cell-free Formation of RNA Granules: Bound RNAs Identify Features and Components of Cellular Assemblies

(2012) Tina W. Han et al.   CELL

Voltage-Gated Sodium Channels: Mutations, Channelopathies and Targets

(2012) G. S.B. Andavan et al.   CURRENT MEDICINAL CHEMISTRY

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain

(2012) D. D. Licatalosi et al.   GENES & DEVELOPMENT

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

(2012) Julien Couthouis 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

Contrasting Pathology of the Stress Granule Proteins TIA-1 and G3BP in Tauopathies

(2012) T. Vanderweyde et al.   JOURNAL OF NEUROSCIENCE

The myotonic dystrophies: molecular, clinical, and therapeutic challenges

(2012) Bjarne Udd et al.   LANCET NEUROLOGY

MicroRNAs in learning, memory, and neurological diseases

(2012) W. Wang et al.   LEARNING & MEMORY

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

Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair

(2012) Hosung Jung et al.   NATURE REVIEWS NEUROSCIENCE

Clinical features of SCA36: A novel spinocerebellar ataxia with motor neuron involvement (Asidan)

(2012) Y. Ikeda et al.   NEUROLOGY

The remarkable, yet not extraordinary, human brain as a scaled-up primate brain and its associated cost

(2012) S. Herculano-Houzel   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

P-Bodies and Stress Granules: Possible Roles in the Control of Translation and mRNA Degradation

(2012) C. J. Decker et al.   Cold Spring Harbor Perspectives in Biology

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

(2012) Boris Rogelj et al.   Scientific Reports

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

(2012) Tomohiro Yamazaki et al.   Cell Reports

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

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

The significant other: splicing by the minor spliceosome

(2012) Janne J. Turunen et al.   Wiley Interdisciplinary Reviews-RNA

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein aggregates in Huntington's disease

(2011) Montserrat Arrasate et al.   EXPERIMENTAL NEUROLOGY

Analysis of alternative splicing associated with aging and neurodegeneration in the human brain

(2011) J. R. Tollervey et al.   GENOME RESEARCH

TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1

(2011) Karli K. McDonald et al.   HUMAN MOLECULAR GENETICS

A Seeding Reaction Recapitulates Intracellular Formation of Sarkosyl-insoluble Transactivation Response Element (TAR) DNA-binding Protein-43 Inclusions

(2011) Yoshiaki Furukawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Survival of Motor Neuron (SMN) Protein Interacts with the mRNA-Binding Protein HuD and Regulates Localization of Poly(A) mRNA in Primary Motor Neuron Axons

(2011) C. Fallini et al.   JOURNAL OF NEUROSCIENCE

Toward a Digital Gene Response: RNA G-Quadruplexes with Fewer Quartets Fold with Higher Cooperativity

(2011) Melissa A. Mullen et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

(2011) M. Ruggiu et al.   MOLECULAR AND CELLULAR BIOLOGY

RNA targets of TDP-43 identified by UV-CLIP are deregulated in ALS

(2011) Shangxi Xiao et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

(2011) Yimin Hua et al.   NATURE

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

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

RNA targets of wild-type and mutant FET family proteins

(2011) Jessica I Hoell et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

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

Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference

(2011) Mateusz de Mezer et al.   NUCLEIC ACIDS RESEARCH

CAG repeats mimic CUG repeats in the misregulation of alternative splicing

(2011) Agnieszka Mykowska et al.   NUCLEIC ACIDS RESEARCH

Matrin 3 Binds and Stabilizes mRNA

(2011) Maayan Salton et al.   PLoS One

In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models

(2011) A. Garcia-Lopez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

(2010) Simona Pedrotti et al.   EMBO JOURNAL

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

(2010) Youhna M Ayala et al.   EMBO JOURNAL

Perspectives and diagnostic considerations in spinal muscular atrophy

(2010) Thomas W Prior   GENETICS IN MEDICINE

Neurotoxic effects of TDP-43 overexpression in C. elegans

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

Interaction with Polyglutamine Aggregates Reveals a Q/N-rich Domain in TDP-43

(2010) Rodrigo A. Fuentealba et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An RNA G-Quadruplex Is Essential for Cap-Independent Translation Initiation in Human VEGF IRES

(2010) Mark J. Morris et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

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

(2010) Ian RA Mackenzie et al.   LANCET NEUROLOGY

Huntington's disease: from molecular pathogenesis to clinical treatment

(2010) Christopher A Ross et al.   LANCET NEUROLOGY

TDP-43 toxicity in yeast

(2010) Maria Armakola et al.   METHODS

Neural mechanisms of ageing and cognitive decline

(2010) Nicholas A. Bishop et al.   NATURE

Widespread transcription at neuronal activity-regulated enhancers

(2010) Tae-Kyung Kim et al.   NATURE

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

(2010) Andrew C. Elden et al.   NATURE

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

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

A Drosophila model for TDP-43 proteinopathy

(2010) Y. Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu 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

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

RNA and Disease

(2009) Thomas A. Cooper et al.   CELL

TDP-43 Is Intrinsically Aggregation-prone, and Amyotrophic Lateral Sclerosis-linked Mutations Accelerate Aggregation and Increase Toxicity

(2009) Brian S. Johnson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Equal numbers of neuronal and nonneuronal cells make the human brain an isometrically scaled-up primate brain

(2009) Frederico A.C. Azevedo et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

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

Cross-Seeding Fibrillation of Q/N-Rich Proteins Offers New Pathomechanism of Polyglutamine Diseases

(2009) Y. Furukawa et al.   JOURNAL OF NEUROSCIENCE

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

(2009) Mo Chen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

(2009) N. Ticozzi et al.   NEUROLOGY

Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo

(2009) A. D'Ambrogio et al.   NUCLEIC ACIDS RESEARCH

Structural insights into TDP-43 in nucleic-acid binding and domain interactions

(2009) P.-H. Kuo et al.   NUCLEIC ACIDS RESEARCH

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang 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

The TET Family of Proteins: Functions and Roles in Disease

(2009) A. Y. Tan et al.   Journal of Molecular Cell Biology

Enrichment of C-Terminal Fragments in TAR DNA-Binding Protein-43 Cytoplasmic Inclusions in Brain but not in Spinal Cord of Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2008) Lionel M. Igaz et al.   AMERICAN JOURNAL OF PATHOLOGY

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Disturbance of Nuclear and Cytoplasmic TAR DNA-binding Protein (TDP-43) Induces Disease-like Redistribution, Sequestration, and Aggregate Formation

(2008) Matthew J. Winton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander

(2008) Gareth T. Banks et al.   MAMMALIAN GENOME

HITS-CLIP yields genome-wide insights into brain alternative RNA processing

(2008) Donny D. Licatalosi et al.   NATURE

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