Autophagy Dysregulation in ALS: When Protein Aggregates Get Out of Hand

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

Pur-alpha regulates cytoplasmic stress granule dynamics and ameliorates FUS toxicity

(2016) J. Gavin Daigle et al.   ACTA NEUROPATHOLOGICA

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

(2016) Tobias B. Haack et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disturbance of proteasomal and autophagic protein degradation pathways by amyotrophic lateral sclerosis-linked mutations in ubiquilin 2

(2016) Mayuko Osaka et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mechanisms of neuronal homeostasis: Autophagy in the axon

(2016) Sandra Maday   BRAIN RESEARCH

UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome

(2016) Roland Hjerpe et al.   CELL

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

Increased Ubqln2 expression causes neuron death in transgenic rats

(2016) Bo Huang et al.   JOURNAL OF NEUROCHEMISTRY

ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signalling

(2016) Alice Goode et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

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

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

Autophagic down-regulation in motor neurons remarkably prolongs the survival of ALS mice

(2016) Kuo-Wei Hsueh et al.   NEUROPHARMACOLOGY

Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy

(2016) Andrew S. Moore et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons

(2016) Julia Higelin et al.   Frontiers in Cellular Neuroscience

VCP recruitment to mitochondria causes mitophagy impairment and neurodegeneration in models of Huntington’s disease

(2016) Xing Guo et al.   Nature Communications

Structural insights into the interaction and disease mechanism of neurodegenerative disease-associated optineurin and TBK1 proteins

(2016) Faxiang Li et al.   Nature Communications

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

(2016) Janet Ugolino et al.   PLoS Genetics

DNA Damage Response and Autophagy: A Meaningful Partnership

(2016) Aristides G. Eliopoulos et al.   Frontiers in Genetics

Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase

(2016) Eiichi Tokuda et al.   Acta Neuropathologica Communications

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

(2016) Peter M. Sullivan et al.   Acta Neuropathologica Communications

Temporal dynamics of PARK2/parkin and OPTN/optineurin recruitment during the mitophagy of damaged mitochondria

(2015) Yvette C Wong et al.   Autophagy

ER stress: Autophagy induction, inhibition and selection

(2015) Harun-Or Rashid et al.   Autophagy

Mutations in the ubiquitin-binding domain of OPTN/optineurin interfere with autophagy-mediated degradation of misfolded proteins by a dominant-negative mechanism

(2015) Wen-Chuan Shen et al.   Autophagy

A fruitful endeavor: Modeling ALS in the fruit fly

(2015) Ian Casci et al.   BRAIN RESEARCH

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

(2015) Avinash Patel et al.   CELL

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

(2015) Q. Xia et al.   EMBO JOURNAL

Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations

(2015) M. J. Finelli et al.   HUMAN MOLECULAR GENETICS

Reduced protein turnover mediates functional deficits in transgenic mice expressing the 25 kDa C-terminal fragment of TDP-43

(2015) Antonella Caccamo et al.   HUMAN MOLECULAR GENETICS

Autophagy in DNA Damage Response

(2015) Piotr Czarny et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Axonal autophagosomes recruit dynein for retrograde transport through fusion with late endosomes

(2015) Xiu-Tang Cheng et al.   JOURNAL OF CELL BIOLOGY

Rapamycin alleviates pathogenesis of a newDrosophilamodel of ALS-TDP

(2015) Ching-Wei Cheng et al.   JOURNAL OF NEUROGENETICS

Autophagy receptor defects and ALS-FTLD

(2015) Veronika Majcher et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Parkin Protects Against Misfolded SOD1 Toxicity by Promoting Its Aggresome Formation and Autophagic Clearance

(2015) Cheryl Yung et al.   MOLECULAR NEUROBIOLOGY

Autophagy in Neurodegenerative Diseases: From Mechanism to Therapeutic Approach

(2015) Jihoon Nah et al.   MOLECULES AND CELLS

The ubiquitin kinase PINK1 recruits autophagy receptors to induce mitophagy

(2015) Michael Lazarou et al.   NATURE

FTD and ALS—translating mouse studies into clinical trials

(2015) Lars M. Ittner et al.   Nature Reviews Neurology

Compromised autophagy and neurodegenerative diseases

(2015) Fiona M. Menzies et al.   NATURE REVIEWS NEUROSCIENCE

Endolysosomal Deficits Augment Mitochondria Pathology in Spinal Motor Neurons of Asymptomatic fALS Mice

(2015) Yuxiang Xie et al.   NEURON

Trehalose decreases mutant SOD1 expression and alleviates motor deficiency in early but not end-stage amyotrophic lateral sclerosis in a SOD1-G93A mouse model

(2015) Y. Li et al.   NEUROSCIENCE

Erratum to: TDP-43 Proteinopathy and ALS: Insights into Disease Mechanisms and Therapeutic Targets

(2015) Emma L. Scotter et al.   Neurotherapeutics

Small-molecule enhancers of autophagy modulate cellular disease phenotypes suggested by human genetics

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

Pathogenic Ubqln2 gains toxic properties to induce neuron death

(2014) Qinxue Wu et al.   ACTA NEUROPATHOLOGICA

Autophagy in neuronal cells: general principles and physiological and pathological functions

(2014) Markus Damme et al.   ACTA NEUROPATHOLOGICA

Functions of FUS/TLS From DNA Repair to Stress Response: Implications for ALS

(2014) Reddy Ranjith Kumar Sama et al.   ASN Neuro

The role of TOR in autophagy regulation from yeast to plants and mammals

(2014) Sandra Díaz-Troya et al.   Autophagy

Pathogenic role of BECN1/Beclin 1 in the development of amyotrophic lateral sclerosis

(2014) Melissa Nassif et al.   Autophagy

MTOR-independent, autophagic enhancer trehalose prolongs motor neuron survival and ameliorates the autophagic flux defect in a mouse model of amyotrophic lateral sclerosis

(2014) Xiaojie Zhang et al.   Autophagy

Autophagosomes, phagosomes, autolysosomes, phagolysosomes, autophagolysosomes… Wait, I’m confused

(2014) Daniel J Klionsky et al.   Autophagy

Oxidative damage and the Nrf2-ARE pathway in neurodegenerative diseases

(2014) Li Gan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Inhibition of autophagy, lysosome and VCP function impairs stress granule assembly

(2014) S J Seguin et al.   CELL DEATH AND DIFFERENTIATION

Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD

(2014) Serena Lattante et al.   HUMAN MOLECULAR GENETICS

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

(2014) Mayuko Osaka 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

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

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

Autophagy induction enhances TDP43 turnover and survival in neuronal ALS models

(2014) Sami J Barmada et al.   Nature Chemical Biology

The role of FUS gene variants in neurodegenerative diseases

(2014) Hao Deng et al.   Nature Reviews Neurology

Autophagy regulates amyotrophic lateral sclerosis-linked fused in sarcoma-positive stress granules in neurons

(2014) Hyun-Hee Ryu et al.   NEUROBIOLOGY OF AGING

TDP-43 N terminus encodes a novel ubiquitin-like fold and its unfolded form in equilibrium that can be shifted by binding to ssDNA

(2014) Haina Qin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients

(2014) Koji Abe et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The neuropathology associated with repeat expansions in the C9ORF72 gene

(2013) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

(2013) Ian R. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

(2013) Elisa Teyssou et al.   ACTA NEUROPATHOLOGICA

Food restriction-induced autophagy modulates degradation of mutant SOD1 in an amyotrophic lateral sclerosis mouse model

(2013) Kunxi Zhang et al.   BRAIN RESEARCH

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

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

Eukaryotic Stress Granules Are Cleared by Autophagy and Cdc48/VCP Function

(2013) J. Ross Buchan et al.   CELL

Historical landmarks of autophagy research

(2013) Yoshinori Ohsumi   CELL RESEARCH

New Insights Into the Role of Sequestosome 1/p62 Mutant Proteins in the Pathogenesis of Paget's Disease of Bone

(2013) Sarah L. Rea et al.   ENDOCRINE REVIEWS

Clinical perspective on oxidative stress in sporadic amyotrophic lateral sclerosis

(2013) Emanuele D’Amico et al.   FREE RADICAL BIOLOGY AND MEDICINE

Controversies and priorities in amyotrophic lateral sclerosis

(2013) Martin R Turner et al.   LANCET NEUROLOGY

Rab11 facilitates cross-talk between autophagy and endosomal pathway through regulation of Hook localization

(2013) Zsuzsanna Szatmári et al.   MOLECULAR BIOLOGY OF THE CELL

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

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

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALS

(2013) Peter E.A. Ash et al.   NEURON

The eIF2α/ATF4 pathway is essential for stress-induced autophagy gene expression

(2013) Wafa B’chir et al.   NUCLEIC ACIDS RESEARCH

dnc-1/dynactin 1 Knockdown Disrupts Transport of Autophagosomes and Induces Motor Neuron Degeneration

(2013) Kensuke Ikenaka et al.   PLoS One

Functional Contribution of the Transcription Factor ATF4 to the Pathogenesis of Amyotrophic Lateral Sclerosis

(2013) Soledad Matus et al.   PLoS One

ALS-Associated TDP-43 Induces Endoplasmic Reticulum Stress, Which Drives Cytoplasmic TDP-43 Accumulation and Stress Granule Formation

(2013) Adam K. Walker et al.   PLoS One

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Autophagy and mitophagy in cellular damage control

(2013) Jianhua Zhang   Redox Biology

IFNG and autophagy

(2012) Dhananjaya V. Kalvakolanu et al.   Autophagy

Recycling endosomes contribute to autophagosome formation

(2012) Andrea Longatti et al.   Autophagy

Autophagy activation ameliorates neuronal pathogenesis of FTLD-U mice

(2012) I-Fang Wang et al.   Autophagy

Mechanisms of Autophagosome Biogenesis

(2012) David C. Rubinsztein et al.   CURRENT BIOLOGY

A novel small molecule, N-(4-(2-pyridyl)(1,3-thiazol-2-yl))-2-(2,4,6-trimethylphenoxy) acetamide, selectively protects against oxidative stress-induced cell death by activating the Nrf2–ARE pathway: Therapeutic implications for ALS

(2012) Takuya Kanno et al.   FREE RADICAL BIOLOGY AND MEDICINE

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

(2012) Elisa Majounie et al.   LANCET NEUROLOGY

Mutant FUS induces endoplasmic reticulum stress in amyotrophic lateral sclerosis and interacts with protein disulfide-isomerase

(2012) Manal A. Farg et al.   NEUROBIOLOGY OF AGING

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

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

The Delicate Balance Between Secreted Protein Folding and Endoplasmic Reticulum-Associated Degradation in Human Physiology

(2012) Christopher J. Guerriero et al.   PHYSIOLOGICAL REVIEWS

Induction of Apoptosis Coupled to Endoplasmic Reticulum Stress in Human Prostate Cancer Cells by n-butylidenephthalide

(2012) Sheng-Chun Chiu et al.   PLoS One

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

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

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Differential Involvement of Optineurin in Amyotrophic Lateral Sclerosis With or Without SOD1 Mutations

(2011) Han-Xiang Deng   ARCHIVES OF NEUROLOGY

Rapamycin treatment augments motor neuron degeneration in SOD1G93Amouse model of amyotrophic lateral sclerosis

(2011) Xiaojie Zhang et al.   Autophagy

Autophagy, mitochondria and oxidative stress: cross-talk and redox signalling

(2011) Jisun Lee et al.   BIOCHEMICAL JOURNAL

Regulation of Autophagy by Neuropathological Protein TDP-43

(2011) Jayarama Krishnan Bose et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autophagy in Spinal Cord Motor Neurons in Sporadic Amyotrophic Lateral Sclerosis

(2011) Shoichi Sasaki   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

p62 Is a Key Regulator of Nutrient Sensing in the mTORC1 Pathway

(2011) Angeles Duran et al.   MOLECULAR CELL

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

(2011) Han-Xiang Deng et al.   NATURE

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

Alteration of protein folding and degradation in motor neuron diseases: Implications and protective functions of small heat shock proteins

(2011) Serena Carra et al.   PROGRESS IN NEUROBIOLOGY

An Overview of DNA Repair in Amyotrophic Lateral Sclerosis

(2011) Fabio Coppedè   TheScientificWorldJOURNAL

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

(2011) Cao Huang et al.   PLoS Genetics

FUS-immunoreactive inclusions are a common feature in sporadic and non-SOD1 familial amyotrophic lateral sclerosis

(2010) Han-Xiang Deng et al.   ANNALS OF NEUROLOGY

A role of small heat shock protein B8 (HspB8) in the autophagic removal of misfolded proteins responsible for neurodegenerative diseases

(2010) Valeria Crippa et al.   Autophagy

Rab7: Role of its protein interaction cascades in endo-lysosomal traffic

(2010) Tuanlao Wang et al.   CELLULAR SIGNALLING

mTOR regulation of autophagy

(2010) Chang Hwa Jung et al.   FEBS LETTERS

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

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

Ubiquilin functions in autophagy and is degraded by chaperone-mediated autophagy

(2010) C. Rothenberg et al.   HUMAN MOLECULAR GENETICS

TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration

(2010) C. Lagier-Tourenne et al.   HUMAN MOLECULAR GENETICS

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

(2010) S. Millecamps et al.   JOURNAL OF MEDICAL GENETICS

Regulation of TDP-43 aggregation by phosphorylation andp62/SQSTM1

(2010) Owen A. Brady et al.   JOURNAL OF NEUROCHEMISTRY

Autophagy: cellular and molecular mechanisms

(2010) Danielle Glick et al.   JOURNAL OF PATHOLOGY

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

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

(2010) D. Baumer et al.   NEUROLOGY

Novel Antibodies Reveal Inclusions Containing Non-Native SOD1 in Sporadic ALS Patients

(2010) Karin Forsberg et al.   PLoS One

Treatment with lithium carbonate does not improve disease progression in two different strains of SOD1 mutant mice

(2009) Chiara Pizzasegola et al.   Amyotrophic Lateral Sclerosis

The role of lithium in the treatment of bipolar disorder: convergent evidence for neurotrophic effects as a unifying hypothesis

(2009) Rodrigo Machado-Vieira et al.   BIPOLAR DISORDERS

TDP-43 Redistribution is an Early Event in Sporadic Amyotrophic Lateral Sclerosis

(2009) Maria Teresa Giordana et al.   BRAIN PATHOLOGY

Rapamycin Rescues TDP-43 Mislocalization and the Associated Low Molecular Mass Neurofilament Instability

(2009) Antonella Caccamo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mammalian macroautophagy at a glance

(2009) B. Ravikumar et al.   JOURNAL OF CELL SCIENCE

Degradation of TDP-43 and its pathogenic form by autophagy and the ubiquitin-proteasome system

(2009) Xiaoju Wang et al.   NEUROSCIENCE LETTERS

No Benefit from Chronic Lithium Dosing in a Sibling-Matched, Gender Balanced, Investigator-Blinded Trial Using a Standard Mouse Model of Familial ALS

(2009) Alan Gill et al.   PLoS One

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

Autophagy: A lysosomal degradation pathway with a central role in health and disease

(2008) Eeva-Liisa Eskelinen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Motor Neuron Disease Occurring in a Mutant Dynactin Mouse Model Is Characterized by Defects in Vesicular Trafficking

(2008) F. M. Laird et al.   JOURNAL OF NEUROSCIENCE

Autophagy Induction and Autophagosome Clearance in Neurons: Relationship to Autophagic Pathology in Alzheimer's Disease

(2008) B. Boland et al.   JOURNAL OF NEUROSCIENCE

TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis

(2008) Vivianna M Van Deerlin et al.   LANCET NEUROLOGY

Small molecule enhancers of autophagy for neurodegenerative diseases

(2008) Sovan Sarkar et al.   Molecular BioSystems

Lithium delays progression of amyotrophic lateral sclerosis

(2008) F. Fornai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE