Amyotrophic Lateral Sclerosis Pathogenesis: A Journey Through the Secretory Pathway

Sorting, recognition and activation of the misfolded protein degradation pathways through macroautophagy and the proteasome

(2014) Wen-Xing Ding et al.   Autophagy

Altered macroautophagy in the spinal cord of SOD1 mutant mice

(2014) Liang Li et al.   Autophagy

Dual role of Atg1 in regulation of autophagy-specific PAS assembly in Saccharomyces cerevisiae

(2014) Hessun Cheong et al.   Autophagy

The Role of Mitochondria in Reactive Oxygen Species Metabolism and Signaling

(2010) Anatoly A. Starkov   Annals of the New York Academy of Sciences

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

(2010) E. Kabashi et al.   HUMAN MOLECULAR GENETICS

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

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

Sestrin as a Feedback Inhibitor of TOR That Prevents Age-Related Pathologies

(2010) J. H. Lee et al.   SCIENCE

TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

(2009) Michael A. Gitcho et al.   ACTA NEUROPATHOLOGICA

ER and aging—Protein folding and the ER stress response

(2009) Nirinjini Naidoo   AGEING RESEARCH REVIEWS

Dysfunction of the unfolded protein response increases neurodegeneration in aged rat hippocampus following proteasome inhibition

(2009) María Paz Gavilán et al.   AGING CELL

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A phase II trial of talampanel in subjects with amyotrophic lateral sclerosis

(2009) Robert M. Pascuzzi et al.   Amyotrophic Lateral Sclerosis

Regulation Mechanisms and Signaling Pathways of Autophagy

(2009) Congcong He et al.   Annual Review of Genetics

Mitochondrial Function, Morphology, and Axonal Transport in Amyotrophic Lateral Sclerosis

(2009) Jordi Magrané et al.   ANTIOXIDANTS & REDOX SIGNALING

Mechanisms and Implications of Reactive Oxygen Species Generation During the Unfolded Protein Response: Roles of Endoplasmic Reticulum Oxidoreductases, Mitochondrial Electron Transport, and NADPH Oxidase

(2009) Célio X.C. Santos et al.   ANTIOXIDANTS & REDOX SIGNALING

Aggregation of Copper–Zinc Superoxide Dismutase in Familial and Sporadic ALS

(2009) Madhuri Chattopadhyay et al.   ANTIOXIDANTS & REDOX SIGNALING

XBP-1 deficiency in the nervous system reveals a homeostatic switch to activate autophagy

(2009) Soledad Matus et al.   Autophagy

Phosphatidylinositol 3,5-bisphosphate and Fab1p/PIKfyve underPPIn endo-lysosome function

(2009) Stephen K. Dove et al.   BIOCHEMICAL JOURNAL

Two Disaccharides and TrimethylamineN-Oxide Affect Aβ Aggregation Differently, but All Attenuate Oligomer-Induced Membrane Permeability

(2009) Wei Qi et al.   BIOCHEMISTRY

Protein disulphide isomerase protects against protein aggregation and is S-nitrosylated in amyotrophic lateral sclerosis

(2009) Adam K. Walker et al.   BRAIN

Effects of partial suppression of parkin on huntingtin mutant R6/1 mice

(2009) Isabel Rubio et al.   BRAIN RESEARCH

Rethinking ALS: The FUS about TDP-43

(2009) Clotilde Lagier-Tourenne et al.   CELL

IRE1α Kinase Activation Modes Control Alternate Endoribonuclease Outputs to Determine Divergent Cell Fates

(2009) Dan Han et al.   CELL

The inositol 1,4,5-trisphosphate receptor regulates autophagy through its interaction with Beclin 1

(2009) J M Vicencio et al.   CELL DEATH AND DIFFERENTIATION

Endoplasmic Reticulum Protein Quality Control in Neurodegenerative Disease: The Good, the Bad and the Therapy

(2009) Wiep Scheper et al.   CURRENT MEDICINAL CHEMISTRY

Mitochondrial apoptosis induced by BH3-only molecules in the exclusive presence of endoplasmic reticular Bak

(2009) Martina Klee et al.   EMBO JOURNAL

Activation of mammalian IRE1α upon ER stress depends on dissociation of BiP rather than on direct interaction with unfolded proteins

(2009) Daisuke Oikawa et al.   EXPERIMENTAL CELL RESEARCH

The mitochondrial permeability transition pore in motor neurons: Involvement in the pathobiology of ALS mice

(2009) Lee J. Martin et al.   EXPERIMENTAL NEUROLOGY

Autophagy for the avoidance of neurodegeneration

(2009) F. Madeo et al.   GENES & DEVELOPMENT

XBP-1 deficiency in the nervous system protects against amyotrophic lateral sclerosis by increasing autophagy

(2009) C. Hetz et al.   GENES & DEVELOPMENT

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

(2009) Cole J. Ferguson et al.   HUMAN MOLECULAR GENETICS

Variation in aggregation propensities among ALS-associated variants of SOD1: Correlation to human disease

(2009) Mercedes Prudencio et al.   HUMAN MOLECULAR GENETICS

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

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

The Nrf2-Antioxidant Response Element Signaling Pathway and Its Activation by Oxidative Stress

(2009) Truyen Nguyen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Coordination of membrane events during autophagy by multiple class III PI3-kinase complexes

(2009) Anne Simonsen et al.   JOURNAL OF CELL BIOLOGY

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

Regulated Ire1-dependent decay of messenger RNAs in mammalian cells

(2009) Julie Hollien et al.   JOURNAL OF CELL BIOLOGY

How do ESCRT proteins control autophagy?

(2009) T. E. Rusten et al.   JOURNAL OF CELL SCIENCE

Control of mitochondrial apoptosis by the Bcl-2 family

(2009) J. K. Brunelle et al.   JOURNAL OF CELL SCIENCE

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

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

Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin-independent mechanism

(2009) Jozsef Gal et al.   JOURNAL OF NEUROCHEMISTRY

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

Reticulon-4A (Nogo-A) Redistributes Protein Disulfide Isomerase to Protect Mice from SOD1-Dependent Amyotrophic Lateral Sclerosis

(2009) Y. S. Yang et al.   JOURNAL OF NEUROSCIENCE

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

The evidence for altered RNA metabolism in amyotrophic lateral sclerosis (ALS)

(2009) Michael J. Strong   JOURNAL OF THE NEUROLOGICAL SCIENCES

BAX Inhibitor-1 Is a Negative Regulator of the ER Stress Sensor IRE1α

(2009) Fernanda Lisbona et al.   MOLECULAR CELL

Fine-Tuning of the Unfolded Protein Response: Assembling the IRE1α Interactome

(2009) Claudio Hetz et al.   MOLECULAR CELL

Discovery of Atg5/Atg7-independent alternative macroautophagy

(2009) Yuya Nishida et al.   NATURE

Rapamycin fed late in life extends lifespan in genetically heterogeneous mice

(2009) David E. Harrison et al.   NATURE

A role for motoneuron subtype–selective ER stress in disease manifestations of FALS mice

(2009) Smita Saxena et al.   NATURE NEUROSCIENCE

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

(2009) Patrick A. Dion et al.   NATURE REVIEWS GENETICS

Dynamics and diversity in autophagy mechanisms: lessons from yeast

(2009) Hitoshi Nakatogawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Converging concepts of protein folding in vitro and in vivo

(2009) F Ulrich Hartl et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Soluble fibrillar oligomer levels are elevated in Alzheimer's disease brain and correlate with cognitive dysfunction

(2009) Jennifer L. Tomic et al.   NEUROBIOLOGY OF DISEASE

Wild-type Cu/Zn superoxide dismutase (SOD1) does not facilitate, but impedes the formation of protein aggregates of amyotrophic lateral sclerosis causing mutant SOD1

(2009) Heidrun Witan et al.   NEUROBIOLOGY OF DISEASE

Involvement of CHOP, an ER-stress apoptotic mediator, in both human sporadic ALS and ALS model mice

(2009) Yasushi Ito et al.   NEUROBIOLOGY OF DISEASE

Another gene for ALS: Mutations in sporadic cases and the rare variant hypothesis

(2009) K. Talbot   NEUROLOGY

Mutations in FUS cause FALS and SALS in French and French Canadian populations

(2009) V. V. Belzil et al.   NEUROLOGY

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

(2009) Xiaoju Wang et al.   NEUROSCIENCE LETTERS

Divergent Effects of PERK and IRE1 Signaling on Cell Viability

(2009) Jonathan H. Lin et al.   PLoS One

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

Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS

(2009) C. M. Karch et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) I. Wegorzewska et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

S-Nitrosylation of Drp1 Mediates β-Amyloid-Related Mitochondrial Fission and Neuronal Injury

(2009) Dong-Hyung Cho et al.   SCIENCE

Ribosomal Protein S6 Kinase 1 Signaling Regulates Mammalian Life Span

(2009) C. Selman et al.   SCIENCE

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

Destabilizing Protein Polymorphisms in the Genetic Background Direct Phenotypic Expression of Mutant SOD1 Toxicity

(2009) Tali Gidalevitz et al.   PLoS Genetics

Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS

(2008) Miriam H. Meisler et al.   Amyotrophic Lateral Sclerosis

Lithium therapy in ALS

(2008) Vincent Meininger et al.   Amyotrophic Lateral Sclerosis

Creatine monohydrate in ALS: Effects on strength, fatigue, respiratory status and ALSFRS

(2008) Jeffrey Rosenfeld et al.   Amyotrophic Lateral Sclerosis

Oligomers of the amyloid-β protein disrupt working memory: Confirmation with two behavioral procedures

(2008) Alan Poling et al.   BEHAVIOURAL BRAIN RESEARCH

Soluble oligomers of the amyloid β-protein impair synaptic plasticity and behavior

(2008) Dennis J. Selkoe   BEHAVIOURAL BRAIN RESEARCH

Trehalose impairs aggregation of PrPSc molecules and protects prion-infected cells against oxidative damage

(2008) Florence Béranger et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Protective effect against Parkinson's disease-related insults through the activation of XBP1

(2008) Megumi Sado et al.   BRAIN RESEARCH

Real-Time Redox Measurements during Endoplasmic Reticulum Stress Reveal Interlinked Protein Folding Functions

(2008) Philip I. Merksamer et al.   CELL

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL

Skeletal Muscle Is a Primary Target of SOD1G93A-Mediated Toxicity

(2008) Gabriella Dobrowolny et al.   Cell Metabolism

The Stress Rheostat: An Interplay Between the Unfolded Protein Response (UPR) and Autophagy in Neurodegeneration

(2008) Soledad Matus et al.   CURRENT MOLECULAR MEDICINE

Liaisons dangereuses: autophagy, neuronal survival and neurodegeneration

(2008) Sharon A Tooze et al.   CURRENT OPINION IN NEUROBIOLOGY

The endoplasmic reticulum-Golgi pathway is a target for translocation and aggregation of mutant superoxide dismutase linked to ALS

(2008) Makoto Urushitani et al.   FASEB JOURNAL

Huntington’s disease: degradation of mutant huntingtin by autophagy

(2008) Sovan Sarkar et al.   FEBS Journal

ALS-linked mutant SOD1 induces ER stress- and ASK1-dependent motor neuron death by targeting Derlin-1

(2008) H. Nishitoh et al.   GENES & DEVELOPMENT

Heterodimer formation of wild-type and amyotrophic lateral sclerosis-causing mutant Cu/Zn-superoxide dismutase induces toxicity independent of protein aggregation

(2008) Heidrun Witan et al.   HUMAN MOLECULAR GENETICS

A novel mouse model with impaired dynein/dynactin function develops amyotrophic lateral sclerosis (ALS)-like features in motor neurons and improves lifespan in SOD1-ALS mice

(2008) Eva Teuling et al.   HUMAN MOLECULAR GENETICS

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish

(2008) Francois Gros-Louis et al.   HUMAN MOLECULAR GENETICS

Lysosomal proliferation and distal degeneration in motor neurons expressing the G59S mutation in the p150Glued subunit of dynactin

(2008) E. S. Chevalier-Larsen et al.   HUMAN MOLECULAR GENETICS

VAPB interacts with and modulates the activity of ATF6

(2008) C. Gkogkas et al.   HUMAN MOLECULAR GENETICS

AIP1 Is Critical in Transducing IRE1-mediated Endoplasmic Reticulum Stress Response

(2008) Dianhong Luo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Chemical Biology Investigation of Cell Death Pathways Activated by Endoplasmic Reticulum Stress Reveals Cytoprotective Modulators of ASK1

(2008) InKi Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural determinants of the cellular localization and shuttling of TDP-43

(2008) Y. M. Ayala et al.   JOURNAL OF CELL SCIENCE

ATF4 is an oxidative stress–inducible, prodeath transcription factor in neurons in vitro and in vivo

(2008) Philipp S. Lange et al.   JOURNAL OF EXPERIMENTAL MEDICINE

ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB

(2008) Hiroaki Suzuki et al.   JOURNAL OF NEUROCHEMISTRY

Nuclear Erythroid 2-Related Factor 2-Antioxidative Response Element Signaling Pathway in Motor Cortex and Spinal Cord in Amyotrophic Lateral Sclerosis

(2008) Alexander Sarlette et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS

(2008) Yukio Fujita et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Caspase-2 Cleavage of BID Is a Critical Apoptotic Signal Downstream of Endoplasmic Reticulum Stress

(2008) J.-P. Upton et al.   MOLECULAR AND CELLULAR BIOLOGY

Arimoclomol at dosages up to 300 mg/day is well tolerated and safe in amyotrophic lateral sclerosis

(2008) Merit E. Cudkowicz et al.   MUSCLE & NERVE

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE

One step at a time: endoplasmic reticulum-associated degradation

(2008) Shruthi S. Vembar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Endoplasmic reticulum stress and induction of the unfolded protein response in human sporadic amyotrophic lateral sclerosis

(2008) Julie D. Atkin et al.   NEUROBIOLOGY OF DISEASE

Spinal anterior horn cells in sporadic amyotrophic lateral sclerosis show ribosomal detachment from, and cisternal distention of the rough endoplasmic reticulum

(2008) K. Oyanagi et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Combined lithium and valproate treatment delays disease onset, reduces neurological deficits and prolongs survival in an amyotrophic lateral sclerosis mouse model

(2008) H.-L. Feng et al.   NEUROSCIENCE

The endoplasmic reticulum in apoptosis and autophagy: role of the BCL-2 protein family

(2008) H M Heath-Engel et al.   ONCOGENE

SOD1 and Amyotrophic Lateral Sclerosis: Mutations and Oligomerization

(2008) Lucia Banci et al.   PLoS One

Messenger RNA Oxidation Occurs Early in Disease Pathogenesis and Promotes Motor Neuron Degeneration in ALS

(2008) Yueming Chang et al.   PLoS One

Unfolded protein response transcription factor XBP-1 does not influence prion replication or pathogenesis

(2008) C. Hetz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS

(2008) B TURNER et al.   PROGRESS IN NEUROBIOLOGY

Protein Aggregation and Protein Instability Govern Familial Amyotrophic Lateral Sclerosis Patient Survival

(2008) Qi Wang et al.   PLOS BIOLOGY

Amyotrophic Lateral Sclerosis: From Current Developments in the Laboratory to Clinical Implications

(2007) Mauro Cozzolino et al.   ANTIOXIDANTS & REDOX SIGNALING

Activating transcription factor 4

(2007) Kurosh Ameri et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Superoxide dismutase 1 mutants related to amyotrophic lateral sclerosis induce endoplasmic stress in neuro2a cells

(2007) Yeo Kyoung Oh et al.   JOURNAL OF NEUROCHEMISTRY

The BCL-2 protein family: opposing activities that mediate cell death

(2007) Richard J. Youle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

A Golgi fragmentation pathway in neurodegeneration

(2007) Saya Nakagomi et al.   NEUROBIOLOGY OF DISEASE