Emerging Trends in the Field of Inflammation and Proteinopathy in ALS/FTD Spectrum Disorder

Therapeutic Effect of Rapamycin on TDP-43-Related Pathogenesis in Ischemic Stroke

(2023) Yi-Syue Tsou et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

UNC13Ain amyotrophic lateral sclerosis: from genetic association to therapeutic target

(2023) Sean W Willemse et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The Role of TAR DNA Binding Protein 43 (TDP-43) as a Candi-Date Biomarker of Amyotrophic Lateral Sclerosis: A Systematic Review and Meta-Analysis

(2023) Caterina Maria Gambino et al.   Diagnostics

The Need for Biomarkers in the ALS–FTD Spectrum: A Clinical Point of View on the Role of Proteomics

(2023) Francesca Vignaroli et al.   Proteomes

Effect of mesenchymal stromal cell transplantation on long-term survival in amyotrophic lateral sclerosis

(2023) Fabiola De Marchi et al.   CYTOTHERAPY

Distinct Plasma Immune Profile in ALS Implicates sTNFR-II in pAMPK/Leptin Homeostasis

(2023) Vincent Picher-Martel et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The era of cryptic exons: implications for ALS-FTD

(2023) Puja R. Mehta et al.   Molecular Neurodegeneration

Cell-autonomous immune dysfunction driven by disrupted autophagy in C9orf72 -ALS iPSC-derived microglia contributes to neurodegeneration

(2023) Poulomi Banerjee et al.   Science Advances

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

(2022) Sai Zhang et al.   NEURON

Results and insights from a phase I clinical trial of Lomecel‐B for Alzheimer's disease

(2022) Mark Brody et al.   Alzheimers & Dementia

The Expression of Active CD11b Monocytes in Blood and Disease Progression in Amyotrophic Lateral Sclerosis

(2022) Ozlem Yildiz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis

(2022) Elisa Teyssou et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations

(2022) Bradley F Boeve et al.   LANCET NEUROLOGY

Cylindromatosis drives synapse pruning and weakening by promoting macroautophagy through Akt-mTOR signaling

(2022) Alexis S. Zajicek et al.   MOLECULAR PSYCHIATRY

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

(2022) Anna-Leigh Brown et al.   NATURE

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

(2022) X. Rosa Ma et al.   NATURE

Whole-genome sequencing reveals that variants in the Interleukin 18 Receptor Accessory Protein 3′UTR protect against ALS

(2022) Chen Eitan et al.   NATURE NEUROSCIENCE

Heat shock protein Grp78/BiP/HspA5 binds directly to TDP-43 and mitigates toxicity associated with disease pathology

(2022) Liberty François-Moutal et al.   Scientific Reports

ALS-associated KIF5A mutations abolish autoinhibition resulting in a toxic gain of function

(2022) Desiree M. Baron et al.   Cell Reports

Genetic Variability of Inflammation and Oxidative Stress Genes Affects Onset, Progression of the Disease and Survival of Patients with Amyotrophic Lateral Sclerosis

(2022) Metka Ravnik-Glavač et al.   Genes

ALS/FTD: Evolution, Aging, and Cellular Metabolic Exhaustion

(2022) Robert David Henderson et al.   Frontiers in Neurology

Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic Targets

(2022) Delia Gagliardi et al.   Biomedicines

Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

(2022) Urša Šušnjar et al.   Communications Biology

Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4

(2022) Laura Campisi et al.   NATURE

NUP62 localizes to ALS/FTLD pathological assemblies and contributes to TDP-43 insolubility

(2022) Amanda M. Gleixner et al.   Nature Communications

Editorial: Peripheral immune system and neurodegenerative disease

(2022) Ke Zhang et al.   Frontiers in Aging Neuroscience

A quantitative biology approach correlates neuronal toxicity with the largest inclusions of TDP-43

(2022) Roberta Cascella et al.   Science Advances

From Biomarkers to Precision Medicine in Neurodegenerative Diseases: Where Are We?

(2022) Giacomo Tondo et al.   Journal of Clinical Medicine

Gene Therapy in Amyotrophic Lateral Sclerosis

(2022) Ton Fang et al.   Cells

Investigation of the causal relationship between ALS and autoimmune disorders: a Mendelian randomization study

(2022) Paria Alipour et al.   BMC Medicine

Amyotrophic lateral sclerosis

(2022) Eva L Feldman et al.   LANCET

Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS

(2022) Timothy M. Miller et al.   NEW ENGLAND JOURNAL OF MEDICINE

Distinguishing Frontotemporal Lobar Degeneration Tau From TDP-43 Using Plasma Biomarkers

(2022) Katheryn A. Q. Cousins et al.   JAMA Neurology

Combined Regulatory T-Lymphocyte and IL-2 Treatment Is Safe, Tolerable, and Biologically Active for 1 Year in Persons With Amyotrophic Lateral Sclerosis

(2022) Jason R. Thonhoff et al.   Neurology-Neuroimmunology & Neuroinflammation

Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

(2022) Richard J. Mead et al.   NATURE REVIEWS DRUG DISCOVERY

The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource

(2022) Elliot Sollis et al.   NUCLEIC ACIDS RESEARCH

T cell responses at diagnosis of amyotrophic lateral sclerosis predict disease progression

(2022) Solmaz Yazdani et al.   Nature Communications

TBK1 (TANK-binding kinase 1)-mediated regulation of autophagy in health and disease

(2021) Lina Herhaus   MATRIX BIOLOGY

Genome-wide genetic links between amyotrophic lateral sclerosis and autoimmune diseases

(2021) Chun Yu Li et al.   BMC Medicine

RNA-Binding Proteins and the Complex Pathophysiology of ALS

(2021) Wanil Kim et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Cryo-EM structure of amyloid fibrils formed by the entire low complexity domain of TDP-43

(2021) Qiuye Li et al.   Nature Communications

C9ORF72: What It Is, What It Does, and Why It Matters

(2021) Julie Smeyers et al.   Frontiers in Cellular Neuroscience

Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation

(2021) Priyanka Tripathi et al.   Cell Death & Disease

HnRNP K mislocalisation is a novel protein pathology of frontotemporal lobar degeneration and ageing and leads to cryptic splicing

(2021) Alexander Bampton et al.   ACTA NEUROPATHOLOGICA

Interactome screening of C9orf72 dipeptide repeats reveals VCP sequestration and functional impairment by polyGA

(2021) Janja Božič et al.   BRAIN

TDP-43 and Inflammation: Implications for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2021) Fiona Bright et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Lysosome dysfunction as a cause of neurodegenerative diseases: Lessons from frontotemporal dementia and amyotrophic lateral sclerosis

(2021) Jessica Root et al.   NEUROBIOLOGY OF DISEASE

Interplay between immunity and amyotrophic lateral sclerosis: Clinical impact

(2021) Fabiola De Marchi et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Prescription and acceptance of durable medical equipment in FORTITUDE-ALS, a study of reldesemtiv in ALS: post hoc analyses of a randomized, double-blind, placebo-controlled clinical trial

(2021) Stacy A. Rudnicki et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Neurofilament Light Chain as Biomarker for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

(2021) Federico Verde et al.   Frontiers in Neuroscience

Humoral response to neurofilaments and dipeptide repeats in ALS progression

(2021) Fabiola Puentes et al.   Annals of Clinical and Translational Neurology

Phosphorylated TDP-43 aggregates in peripheral motor nerves of patients with amyotrophic lateral sclerosis

(2021) Nilo Riva et al.   BRAIN

FTLD‐TDP assemblies seed neoaggregates with subtype‐specific features via a prion‐like cascade

(2021) Pierre De Rossi et al.   EMBO REPORTS

CHMP2B regulates TDP-43 phosphorylation and cytotoxicity independent of autophagy via CK1

(2021) Xue Deng et al.   JOURNAL OF CELL BIOLOGY

Proteostasis deregulation as a driver of C9ORF72 pathogenesis

(2021) Paulina Torres et al.   JOURNAL OF NEUROCHEMISTRY

Structure of pathological TDP-43 filaments from ALS with FTLD

(2021) Diana Arseni et al.   NATURE

Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics

(2021) Arvin Behzadi et al.   Scientific Reports

Antibody-Based Therapeutic Interventions for Amyotrophic Lateral Sclerosis: A Systematic Literature Review

(2021) Amélie Poulin-Brière et al.   Frontiers in Neuroscience

Proteinopathies as Hallmarks of Impaired Gene Expression, Proteostasis and Mitochondrial Function in Amyotrophic Lateral Sclerosis

(2021) Bridget C. Benson et al.   Frontiers in Neuroscience

Dysfunction of RNA/RNA-Binding Proteins in ALS Astrocytes and Microglia

(2021) Simona Rossi et al.   Cells

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

(2020) Manon Boivin et al.   EMBO JOURNAL

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

(2020) Peggy Barschke et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Plasma glial fibrillary acidic protein is raised in progranulin-associated frontotemporal dementia

(2020) Carolin Heller et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

(2020) Carol Dobson-Stone et al.   BRAIN

The multifaceted role of kinases in amyotrophic lateral sclerosis: genetic, pathological and therapeutic implications

(2020) Wenting Guo et al.   BRAIN

Cerebrospinal Fluid YKL-40 and Chitotriosidase Levels in Frontotemporal Dementia Vary by Clinical, Genetic and Pathological Subtype

(2020) Ione O.C. Woollacott et al.   DEMENTIA AND GERIATRIC COGNITIVE DISORDERS

Molecular mechanisms and cellular functions of cGAS–STING signalling

(2020) Karl-Peter Hopfner et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Disease-modifying therapies in amyotrophic lateral sclerosis

(2020) Adriano Chiò et al.   NEUROPHARMACOLOGY

Targeting tau: Clinical trials and novel therapeutic approaches

(2020) Lawren VandeVrede et al.   NEUROSCIENCE LETTERS

ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function

(2020) Josephine J. Wu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Real-world evidence of riluzole effectiveness in treating amyotrophic lateral sclerosis

(2020) Jinsy A. Andrews et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

(2020) Ramya Ranganathan et al.   Frontiers in Neuroscience

Optimized method for extraction of exosomes from human primary muscle cells

(2020) Laura Le Gall et al.   Skeletal Muscle

Repeated 5-day cycles of low dose aldesleukin in amyotrophic lateral sclerosis (IMODALS): A phase 2a randomised, double-blind, placebo-controlled trial

(2020) William Camu et al.   EBioMedicine

ALS-Related Mutant SOD1 Aggregates Interfere with Mitophagy by Sequestering the Autophagy Receptor Optineurin

(2020) Yeong Jin Tak et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia

(2020) Mercedes Prudencio et al.   JOURNAL OF CLINICAL INVESTIGATION

The role of TDP-43 mislocalization in amyotrophic lateral sclerosis

(2020) Terry R. Suk et al.   Molecular Neurodegeneration

C9orf72 in myeloid cells suppresses STING-induced inflammation

(2020) Madelyn E. McCauley et al.   NATURE

Modifying macrophages at the periphery has the capacity to change microglial reactivity and to extend ALS survival

(2020) Aude Chiot et al.   NATURE NEUROSCIENCE

ALS Genetics: Gains, Losses, and Implications for Future Therapies

(2020) Garam Kim et al.   NEURON

Trial of Sodium Phenylbutyrate–Taurursodiol for Amyotrophic Lateral Sclerosis

(2020) Sabrina Paganoni et al.   NEW ENGLAND JOURNAL OF MEDICINE

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics

(2020) Minyeop Nahm et al.   Science Translational Medicine

A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS

(2020) Jeremy M. Shefner et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Optineurin defects cause TDP43-pathology with autophagic vacuolar formation

(2020) Takashi Kurashige et al.   NEUROBIOLOGY OF DISEASE

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

RNA Dysregulation in Amyotrophic Lateral Sclerosis

(2019) Zoe Butti et al.   Frontiers in Genetics

Immune dysregulation in amyotrophic lateral sclerosis: mechanisms and emerging therapies

(2019) David R Beers et al.   LANCET NEUROLOGY

Disrupted neuronal trafficking in amyotrophic lateral sclerosis

(2019) Katja Burk et al.   ACTA NEUROPATHOLOGICA

Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD

(2019) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

The debated toxic role of aggregated TDP-43 in amyotrophic lateral sclerosis: a resolution in sight?

(2019) Rudolf C Hergesheimer et al.   BRAIN

An update on genetic frontotemporal dementia

(2019) Caroline V. Greaves et al.   JOURNAL OF NEUROLOGY

CSF chitinase proteins in amyotrophic lateral sclerosis

(2019) Alexander G Thompson et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

ALS-FTLD-linked mutations of SQSTM1/p62 disrupt selective autophagy and NFE2L2/NRF2 anti-oxidative stress pathway

(2019) Zhiqiang Deng et al.   Autophagy

Neuroinflammation in frontotemporal dementia

(2019) Fiona Bright et al.   Nature Reviews Neurology

Mutant FUS and ELAVL4 (HuD) Aberrant Crosstalk in Amyotrophic Lateral Sclerosis

(2019) Riccardo De Santis et al.   Cell Reports

Masitinib as an add-on therapy to riluzole in patients with amyotrophic lateral sclerosis: a randomized clinical trial

(2019) Jesus S. Mora et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Ageing as a risk factor for neurodegenerative disease

(2019) Yujun Hou et al.   Nature Reviews Neurology

Neurofilaments in pre-symptomatic ALS and the impact of genotype

(2019) Michael Benatar et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Peripheral Innate Immune Activation Correlates With Disease Severity in GRN Haploinsufficiency

(2019) Peter A. Ljubenkov et al.   Frontiers in Neurology

Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis

(2019) Patrick Oeckl et al.   ACTA NEUROPATHOLOGICA

NurOwn, phase 2, randomized, clinical trial in patients with ALS

(2019) James D. Berry et al.   NEUROLOGY

Serum neurofilament light chain in genetic frontotemporal dementia: a longitudinal, multicentre cohort study

(2019) Emma L van der Ende et al.   LANCET NEUROLOGY

CSF synaptic protein concentrations are raised in those with atypical Alzheimer’s disease but not frontotemporal dementia

(2019) Mica T. M. Clarke et al.   Alzheimers Research & Therapy

Integrated MRI and [11 C]-PBR28 PET Imaging in Amyotrophic Lateral sclerosis

(2018) Mohamad J. Alshikho et al.   ANNALS OF NEUROLOGY

TAR DNA-Binding Protein 43 and Disrupted in Schizophrenia 1 Coaggregation Disrupts Dendritic Local Translation and Mental Function in Frontotemporal Lobar Degeneration

(2018) Ryo Endo et al.   BIOLOGICAL PSYCHIATRY

Innate immune adaptor TRIF deficiency accelerates disease progression of ALS mice with accumulation of aberrantly activated astrocytes

(2018) Okiru Komine et al.   CELL DEATH AND DIFFERENTIATION

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

(2018) Carina Lehmer et al.   EMBO Molecular Medicine

ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis

(2018) Sonam Parakh et al.   HUMAN MOLECULAR GENETICS

Causative Genes in Amyotrophic Lateral Sclerosis and Protein Degradation Pathways: a Link to Neurodegeneration

(2018) C. Maurel et al.   MOLECULAR NEUROBIOLOGY

TDP-43 pathology disrupts nuclear pore complexes and nucleocytoplasmic transport in ALS/FTD

(2018) Ching-Chieh Chou et al.   NATURE NEUROSCIENCE

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

TDP-43 pathology in multiple system atrophy: colocalization of TDP-43 and α-synuclein in glial cytoplasmic inclusions

(2018) S. Koga et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Optineurin Insufficiency Disbalances Proinflammatory and Anti-inflammatory Factors by Reducing Microglial IFN-β Responses

(2018) Andrea Markovinovic et al.   NEUROSCIENCE

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies

(2018) Iris Broce et al.   PLOS MEDICINE

Association of Regulatory T-Cell Expansion With Progression of Amyotrophic Lateral Sclerosis

(2018) Rebecca K. Sheean et al.   JAMA Neurology

Optineurin Functions for Optimal Immunity

(2018) Karolina Slowicka et al.   Frontiers in Immunology

Dysfunction of Optineurin in Amyotrophic Lateral Sclerosis and Glaucoma

(2018) Reka P. Toth et al.   Frontiers in Immunology

Decreased signalling of EphA4 improves functional performance and motor neuron survival in the SOD1G93A ALS mouse model

(2018) J. Zhao et al.   Scientific Reports

CSF sAPPβ, YKL-40, and NfL along the ALS-FTD spectrum

(2018) Ignacio Illán-Gala et al.   NEUROLOGY

Blood-Brain Barrier: From Physiology to Disease and Back

(2018) Melanie D. Sweeney et al.   PHYSIOLOGICAL REVIEWS

Genetic mutations in RNA-binding proteins and their roles in ALS

(2017) Katannya Kapeli et al.   HUMAN GENETICS

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

(2017) Noa Lipstein et al.   JOURNAL OF CLINICAL INVESTIGATION

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

(2017) Koji Abe et al.   LANCET NEUROLOGY

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

(2017) Lindsay A. Becker et al.   NATURE

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

TDP-43 Depletion in Microglia Promotes Amyloid Clearance but Also Induces Synapse Loss

(2017) Rosa C. Paolicelli et al.   NEURON

Aberrant distributions of nuclear pore complex proteins in ALS mice and ALS patients

(2017) Jingwei Shang et al.   NEUROSCIENCE

Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms

(2017) Andrea Markovinovic et al.   PROGRESS IN NEUROBIOLOGY

Endocytosis regulates TDP-43 toxicity and turnover

(2017) Guangbo Liu et al.   Nature Communications

The TBK1-OPTN Axis Mediates Crosstalk Between Mitophagy and the Innate Immune Response: A Potential Therapeutic Target for Neurodegenerative Diseases

(2017) Lu He et al.   Neuroscience Bulletin

Disease Mechanisms of C9ORF72 Repeat Expansions

(2017) Tania F. Gendron et al.   Cold Spring Harbor Perspectives in Medicine

July 2017 ENCALS statement on edaravone

(2017) Ammar Al-Chalabi et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Characterization of Gene Expression Phenotype in Amyotrophic Lateral Sclerosis Monocytes

(2017) Weihua Zhao et al.   JAMA Neurology

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemporal Lobar Degeneration

(2017) Yvonne S. Davidson et al.   Acta Neuropathologica Communications

Peripheral monocytes are functionally altered and invade the CNS in ALS patients

(2016) Lisa Zondler et al.   ACTA NEUROPATHOLOGICA

Defective recognition of LC3B by mutant SQSTM1/p62 implicates impairment of autophagy as a pathogenic mechanism in ALS-FTLD

(2016) Alice Goode et al.   Autophagy

The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway

(2016) Sorana Ciura et al.   Autophagy

The Golgi apparatus acts as a platform for TBK1 activation after viral RNA sensing

(2016) Marie Pourcelot et al.   BMC BIOLOGY

Reverse engineering human neurodegenerative disease using pluripotent stem cell technology

(2016) Ying Liu et al.   BRAIN RESEARCH

Immunoprecipitation and mass spectrometry defines an extensive RBM45 protein–protein interaction network

(2016) Yang Li et al.   BRAIN RESEARCH

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

The C9orf72 protein interacts with Rab1a and the ULK1 complex to regulate initiation of autophagy

(2016) Christopher P Webster et al.   EMBO JOURNAL

The TBK1-binding domain of optineurin promotes type I interferon responses

(2016) Netra Pal Meena et al.   FEBS LETTERS

Gain-of-function profilin 1 mutations linked to familial amyotrophic lateral sclerosis cause seed-dependent intracellular TDP-43 aggregation

(2016) Yoshinori Tanaka et al.   HUMAN MOLECULAR GENETICS

Impaired activation of ALS monocytes by exosomes

(2016) Lisa Zondler et al.   IMMUNOLOGY AND CELL BIOLOGY

Developmentally Regulated RNA-binding Protein 1 (Drb1)/RNA-binding Motif Protein 45 (RBM45), a Nuclear-Cytoplasmic Trafficking Protein, Forms TAR DNA-binding Protein 43 (TDP-43)-mediated Cytoplasmic Aggregates

(2016) Takafumi Mashiko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Quantification of the Relative Contributions of Loss-of-function and Gain-of-function Mechanisms in TAR DNA-binding Protein 43 (TDP-43) Proteinopathies

(2016) Roberta Cascella et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

GPNMB ameliorates mutant TDP-43-induced motor neuron cell death

(2016) Yuki Nagahara et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Profilin 1 mutants form aggregates that induce accumulation of prion-like TDP-43

(2016) Yoshinori Tanaka et al.   Prion

C9orf72 is required for proper macrophage and microglial function in mice

(2016) J. G. ORourke et al.   SCIENCE

How neuroinflammation contributes to neurodegeneration

(2016) R. M. Ransohoff   SCIENCE

Human TBK1: A Gatekeeper of Neuroinflammation

(2016) Liyana Ahmad et al.   TRENDS IN MOLECULAR MEDICINE

Linear ubiquitination is involved in the pathogenesis of optineurin-associated amyotrophic lateral sclerosis

(2016) Seshiru Nakazawa et al.   Nature Communications

CUL2-mediated clearance of misfolded TDP-43 is paradoxically affected by VHL in oligodendrocytes in ALS

(2016) Tsukasa Uchida et al.   Scientific Reports

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

(2015) Cyril Pottier et al.   ACTA NEUROPATHOLOGICA

Inflammatory molecules in Frontotemporal Dementia: Cerebrospinal fluid signature of progranulin mutation carriers

(2015) D. Galimberti et al.   BRAIN BEHAVIOR AND IMMUNITY

Globular Glial Mixed Four Repeat Tau and TDP-43 Proteinopathy with Motor Neuron Disease and Frontotemporal Dementia

(2015) Ryoko Takeuchi et al.   BRAIN PATHOLOGY

TDP-43 loss of function increases TFEB activity and blocks autophagosome-lysosome fusion

(2015) Q. Xia et al.   EMBO JOURNAL

TDP-43 activates microglia through NF-κB and NLRP3 inflammasome

(2015) Weihua Zhao et al.   EXPERIMENTAL NEUROLOGY

TBK1 controls autophagosomal engulfment of polyubiquitinated mitochondria through p62/SQSTM1 phosphorylation

(2015) Gen Matsumoto et al.   HUMAN MOLECULAR GENETICS

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Potential Environmental Factors in Amyotrophic Lateral Sclerosis

(2015) Björn Oskarsson et al.   NEUROLOGIC CLINICS

Loss ofTBK1is a frequent cause of frontotemporal dementia in a Belgian cohort

(2015) Ilse Gijselinck et al.   NEUROLOGY

Proteomic analyses reveal that loss of TDP-43 affects RNA processing and intracellular transport

(2015) M. Štalekar et al.   NEUROSCIENCE

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

Complex Inflammation mRNA-Related Response in ALS Is Region Dependent

(2015) Sara Berjaoui et al.   NEURAL PLASTICITY

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

Inflammation Induces TDP-43 Mislocalization and Aggregation

(2015) Ana Sofia Correia et al.   PLoS One

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

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

Concomitant accumulation of α-synuclein and TDP-43 in a patient with corticobasal degeneration

(2014) Satoshi Yamashita et al.   JOURNAL OF NEUROLOGY

Poly-A Binding Protein-1 Localization to a Subset of TDP-43 Inclusions in Amyotrophic Lateral Sclerosis Occurs More Frequently in Patients Harboring an Expansion inC9orf72

(2014) Leeanne McGurk et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Aggregate formation prevents dTDP-43 neurotoxicity in the Drosophila melanogaster eye

(2014) Lucia Cragnaz et al.   NEUROBIOLOGY OF DISEASE

Amyloid-β oligomers as a template for secondary amyloidosis in Alzheimer's disease

(2014) Marcos J. Guerrero-Muñoz et al.   NEUROBIOLOGY OF DISEASE

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

The Tau Tubulin Kinases TTBK1/2 Promote Accumulation of Pathological TDP-43

(2014) Nicole F. Liachko et al.   PLoS Genetics

Interaction of transactive response DNA binding protein 43 with nuclear factor κB in mild cognitive impairment with episodic memory deficits

(2014) Yasuyuki Ohta et al.   Acta Neuropathologica Communications

Protein aggregation in amyotrophic lateral sclerosis

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

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

(2013) Veronique V. Belzil et al.   ACTA NEUROPATHOLOGICA

Mitochondrial dysfunction in amyotrophic lateral sclerosis - a valid pharmacological target?

(2013) H Muyderman et al.   BRITISH JOURNAL OF PHARMACOLOGY

Immune-mediated Mechanisms in the Pathoprogression of Amyotrophic Lateral Sclerosis

(2013) Weihua Zhao et al.   Journal of Neuroimmune Pharmacology

How Do Immune Cells Support and Shape the Brain in Health, Disease, and Aging?

(2013) M. Schwartz et al.   JOURNAL OF NEUROSCIENCE

Autoimmune disease preceding amyotrophic lateral sclerosis: An epidemiologic study

(2013) M. R. Turner et al.   NEUROLOGY

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

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 RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients

(2012) Mahlon Collins et al.   ACTA NEUROPATHOLOGICA

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

(2012) Manohar Pilli et al.   IMMUNITY

Roles of Ataxin-2 in Pathological Cascades Mediated by TAR DNA-binding Protein 43 (TDP-43) and Fused in Sarcoma (FUS)

(2012) Yoshihiro Nihei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Insights into the role of progranulin in immunity, infection, and inflammation

(2012) J. Jian et al.   JOURNAL OF LEUKOCYTE BIOLOGY

p62/sequestosome 1 binds to TDP-43 in brains with frontotemporal lobar degeneration with TDP-43 inclusions

(2012) Kunikazu Tanji et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Quantitative Analysis of the Detergent-Insoluble Brain Proteome in Frontotemporal Lobar Degeneration Using SILAC Internal Standards

(2012) Nicholas T. Seyfried et al.   JOURNAL OF PROTEOME RESEARCH

UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis

(2012) Kelly L. Williams et al.   NEUROBIOLOGY OF AGING

Rho guanine nucleotide exchange factor is an NFL mRNA destabilizing factor that forms cytoplasmic inclusions in amyotrophic lateral sclerosis

(2012) Cristian A. Droppelmann et al.   NEUROBIOLOGY OF AGING

SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

(2012) E. Rubino et al.   NEUROLOGY

Cyclin-dependent kinase 5 immunoreactivity for granulovacuolar degeneration

(2012) Masahiro Nakamori et al.   NEUROREPORT

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

(2011) Tibor Hortobágyi et al.   ACTA NEUROPATHOLOGICA

Keeping up with genetic discoveries in amyotrophic lateral sclerosis: The ALSoD and ALSGene databases

(2011) Christina M. Lill et al.   Amyotrophic Lateral Sclerosis

Endogenous regulatory T lymphocytes ameliorate amyotrophic lateral sclerosis in mice and correlate with disease progression in patients with amyotrophic lateral sclerosis

(2011) David R. Beers et al.   BRAIN

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

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

Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease

(2011) Thomas Philips et al.   LANCET NEUROLOGY

Aberrant septin 11 is associated with sporadic frontotemporal lobar degeneration

(2011) Yair M Gozal et al.   Molecular Neurodegeneration

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

(2011) Han-Xiang Deng et al.   NATURE

Gains or losses: molecular mechanisms of TDP43-mediated neurodegeneration

(2011) Edward B. Lee et al.   NATURE REVIEWS NEUROSCIENCE

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

(2011) Frank P. Diekstra 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

Optineurin in neurodegenerative diseases

(2011) Tenshi Osawa et al.   NEUROPATHOLOGY

Amyotrophic Lateral Sclerosis Multiprotein Biomarkers in Peripheral Blood Mononuclear Cells

(2011) Giovanni Nardo et al.   PLoS One

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

Identification of active loci of a human endogenous retrovirus in neurons of patients with amyotrophic lateral sclerosis

(2010) Renée Douville et al.   ANNALS OF NEUROLOGY

The Spectrum of Mutations in Progranulin

(2010) Chang-En Yu 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

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

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

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

(2009) Michael A van Es et al.   NATURE GENETICS

T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS

(2008) I. M. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA