Comparative interactomics analysis of different ALS-associated proteins identifies converging molecular pathways

Isoform-specific antibodies reveal distinct subcellular localizations of C9orf72 in amyotrophic lateral sclerosis

(2015) Shangxi Xiao et al.   ANNALS OF NEUROLOGY

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

(2015) Max Koppers et al.   ANNALS OF NEUROLOGY

Lrig2 Negatively Regulates Ectodomain Shedding of Axon Guidance Receptors by ADAM Proteases

(2015) Susan van Erp et al.   DEVELOPMENTAL CELL

Fragile X protein mitigates TDP-43 toxicity by remodeling RNA granules and restoring translation

(2015) Alyssa N. Coyne et al.   HUMAN MOLECULAR GENETICS

ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1

(2015) Kathleen M. Gilpin et al.   HUMAN MOLECULAR GENETICS

Emerging mechanisms of molecular pathology in ALS

(2015) Owen M. Peters et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

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

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

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

Defective Proteasome Delivery of Polyubiquitinated Proteins by Ubiquilin-2 Proteins Containing ALS Mutations

(2015) Lydia Chang et al.   PLoS One

Amelioration of toxicity in neuronal models of amyotrophic lateral sclerosis by hUPF1

(2015) Sami J. Barmada et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

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

Ubiquilin-2 drives NF-κB activity and cytosolic TDP-43 aggregation in neuronal cells

(2015) Vincent Picher-Martel et al.   Molecular Brain

C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

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

Preservation of forelimb function by UPF1 gene therapy in a rat model of TDP-43-induced motor paralysis

(2014) K L Jackson et al.   GENE THERAPY

Evidence of a link between ubiquilin 2 and optineurin in amyotrophic lateral sclerosis

(2014) Mayuko Osaka et al.   HUMAN MOLECULAR GENETICS

Multistep process of FUS aggregation in the cell cytoplasm involves RNA-dependent and RNA-independent mechanisms

(2014) Tatyana A. Shelkovnikova et al.   HUMAN MOLECULAR GENETICS

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg 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

Futsch/MAP1B mRNA Is a Translational Target of TDP-43 and Is Neuroprotective in a Drosophila Model of Amyotrophic Lateral Sclerosis

(2014) A. N. Coyne et al.   JOURNAL OF NEUROSCIENCE

Deep Proteomic Evaluation of Primary and Cell Line Motoneuron Disease Models Delineates Major Differences in Neuronal Characteristics

(2014) Daniel Hornburg et al.   MOLECULAR & CELLULAR PROTEOMICS

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

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

(2014) Adrian J. Waite et al.   NEUROBIOLOGY OF AGING

Ribosomal stress activates eEF2K–eEF2 pathway causing translation elongation inhibition and recruitment of Terminal Oligopyrimidine (TOP) mRNAs on polysomes

(2014) Angelo Gismondi et al.   NUCLEIC ACIDS RESEARCH

Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation

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

Neuronal Signaling through Endocytosis

(2014) K. E. Cosker et al.   Cold Spring Harbor Perspectives in Biology

The intracellular redox protein MICAL-1 regulates the development of hippocampal mossy fibre connections

(2014) Eljo Y. Van Battum et al.   Nature Communications

Protein aggregation in amyotrophic lateral sclerosis

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

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

(2013) Timothy P. Levine et al.   BIOINFORMATICS

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-associated mutations in FUS disrupt the axonal distribution and function of SMN

(2013) Ewout J.N. Groen 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

Pathogenic mutation of UBQLN2 impairs its interaction with UBXD8 and disrupts endoplasmic reticulum-associated protein degradation

(2013) Yuxing Xia et al.   JOURNAL OF NEUROCHEMISTRY

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

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

PARP-1 dependent recruitment of the amyotrophic lateral sclerosis-associated protein FUS/TLS to sites of oxidative DNA damage

(2013) Stuart L. Rulten et al.   NUCLEIC ACIDS RESEARCH

Taking a risk: a therapeutic focus on ataxin-2 in amyotrophic lateral sclerosis?

(2013) Dianne M.A. van den Heuvel et al.   TRENDS IN MOLECULAR MEDICINE

Co-aggregation of RNA binding proteins in ALS spinal motor neurons: evidence of a common pathogenic mechanism

(2012) Brian A. Keller et al.   ACTA NEUROPATHOLOGICA

The ALS disease protein TDP-43 is actively transported in motor neuron axons and regulates axon outgrowth

(2012) Claudia Fallini et al.   HUMAN MOLECULAR GENETICS

NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis

(2012) Hylke M. Blauw et al.   HUMAN MOLECULAR GENETICS

TBK-1 Promotes Autophagy-Mediated Antimicrobial Defense by Controlling Autophagosome Maturation

(2012) Manohar Pilli et al.   IMMUNITY

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

PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees

(2012) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes

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

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

(2012) Tomohiro Yamazaki et al.   Cell Reports

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

(2012) Dapeng Zhang et al.   Frontiers in Genetics

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

MICAL-1 Is a Negative Regulator of MST-NDR Kinase Signaling and Apoptosis

(2011) Y. Zhou et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2011) Han-Xiang Deng et al.   NATURE

RNA targets of wild-type and mutant FET family proteins

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

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

The Ataxin-2 protein is required for microRNA function and synapse-specific long-term olfactory habituation

(2011) C. McCann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

Endocytosis and Endosomes at the Crossroads of Regulating Trafficking of Axon Outgrowth-Modifying Receptors

(2011) Bettina Winckler et al.   TRAFFIC

FUS Mutations in Familial Amyotrophic Lateral Sclerosis in the Netherlands

(2010) Ewout J. N. Groen et al.   ARCHIVES OF NEUROLOGY

Novel FUS/TLS Mutations and Pathology in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2010) Christopher Hewitt et al.   ARCHIVES OF NEUROLOGY

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

(2010) Andrew C. Elden et al.   NATURE

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

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

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

Global Analysis of TDP-43 Interacting Proteins Reveals Strong Association with RNA Splicing and Translation Machinery

(2009) Brian D. Freibaum et al.   JOURNAL OF PROTEOME RESEARCH

A practical guide to the MaxQuant computational platform for SILAC-based quantitative proteomics

(2009) Jürgen Cox et al.   Nature Protocols

Dynamic Microtubules Regulate Dendritic Spine Morphology and Synaptic Plasticity

(2009) Jacek Jaworski et al.   NEURON

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

NRP/Optineurin Cooperates with TAX1BP1 to Potentiate the Activation of NF-κB by Human T-Lymphotropic Virus Type 1 Tax Protein

(2009) Chloé Journo et al.   PLoS Pathogens

Enhanced binding of TBK1 by an optineurin mutant that causes a familial form of primary open angle glaucoma

(2008) Simon Morton et al.   FEBS LETTERS

The Ubiquitin-like Protein PLIC-2 Is a Negative Regulator of G Protein-coupled Receptor Endocytosis

(2008) Elsa-Noah N'Diaye et al.   MOLECULAR BIOLOGY OF THE CELL

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY

Fragile X Syndrome: Loss of Local mRNA Regulation Alters Synaptic Development and Function

(2008) Gary J. Bassell et al.   NEURON

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE