Aggregation-prone c9FTD/ALS poly(GA) RAN-translated proteins cause neurotoxicity by inducing ER stress

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

(2014) Malcolm Proudfoot et al.   ACTA NEUROPATHOLOGICA

Mechanisms of toxicity in C9FTLD/ALS

(2014) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Neurodegenerative diseases: G-quadruplex poses quadruple threat

(2014) J. Paul Taylor   NATURE

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

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

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

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron 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

Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion

(2013) Zhengrui Xi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

When ER stress reaches a dead end

(2013) Hery Urra et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation

(2013) Yong-Jie Zhang et al.   HUMAN MOLECULAR GENETICS

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ER-stress-induced transcriptional regulation increases protein synthesis leading to cell death

(2013) Jaeseok Han et al.   NATURE CELL BIOLOGY

Pharmacological reduction of ER stress protects against TDP-43 neuronal toxicity in vivo

(2013) Alexandra Vaccaro et al.   NEUROBIOLOGY OF DISEASE

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

(2013) Peter E.A. Ash et al.   NEURON

RNA Toxicity from the ALS/FTD C9ORF72 Expansion Is Mitigated by Antisense Intervention

(2013) Christopher J. Donnelly et al.   NEURON

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd et al.   NEURON

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

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

(2013) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The deoxynucleotide triphosphohydrolase SAMHD1 is a major regulator of DNA precursor pools in mammalian cells

(2013) E. Franzolin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) K. Mori et al.   SCIENCE

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Cleaning Up: ER-Associated Degradation to the Rescue

(2012) Jeffrey L. Brodsky   CELL

The unfolded protein response in models of human mutant G93A amyotrophic lateral sclerosis

(2012) T. Prell et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Reduced Calreticulin Levels Link Endoplasmic Reticulum Stress and Fas-Triggered Cell Death in Motoneurons Vulnerable to ALS

(2012) N. Bernard-Marissal et al.   JOURNAL OF NEUROSCIENCE

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

Progranulin regulates neuronal outgrowth independent of Sortilin

(2012) Jennifer Gass et al.   Molecular Neurodegeneration

Tauroursodeoxycholic acid (TUDCA) supplementation prevents cognitive impairment and amyloid deposition in APP/PS1 mice

(2012) Adrian C. Lo et al.   NEUROBIOLOGY OF DISEASE

Obesity-induced endoplasmic reticulum stress causes chronic inflammation in adipose tissue

(2012) Noritaka Kawasaki et al.   Scientific Reports

Salubrinal protects against tunicamycin and hypoxia induced cardiomyocyte apoptosis via the PERK-eIF2α signaling pathwaySalubrinal protects against tunicamycin and hypoxia induced cardiomyocyte apoptosis via the PERK-eIF2α signaling pathway

(2012) Liu Chun-Lei et al.   Journal of Geriatric Cardiology

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

Proteasome inhibitor MG132-induced apoptosis via ER stress-mediated apoptotic pathway and its potentiation by protein tyrosine kinase p56lck in human Jurkat T cells

(2011) Hae Sun Park et al.   BIOCHEMICAL PHARMACOLOGY

RT-qPCR study on post-mortem brain samples from patients with major psychiatric disorders: Reference genes and specimen characteristics

(2011) Nerea Abasolo et al.   JOURNAL OF PSYCHIATRIC RESEARCH

Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress

(2011) Ira Tabas et al.   NATURE CELL 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

Validation of Endogenous Control Genes for Gene Expression Studies on Human Ocular Surface Epithelium

(2011) Bina Kulkarni et al.   PLoS One

Accumulation of Wildtype and ALS-Linked Mutated VAPB Impairs Activity of the Proteasome

(2011) Anice Moumen et al.   PLoS One

Selective Inhibition of a Regulatory Subunit of Protein Phosphatase 1 Restores Proteostasis

(2011) P. Tsaytler et al.   SCIENCE

Protein quality control in the ER: balancing the ubiquitin checkbook

(2011) Jasper H.L. Claessen et al.   TRENDS IN CELL BIOLOGY

C-Terminus of Heat Shock Cognate 70 Interacting Protein Increases Following Stroke and Impairs Survival Against Acute Oxidative Stress

(2010) Jeannette N. Stankowski et al.   ANTIOXIDANTS & REDOX SIGNALING

Endoplasmic Reticulum Stress in Motor Neurons of the Spinal Cord in Sporadic Amyotrophic Lateral Sclerosis

(2010) Shoichi Sasaki   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Neuronal Apoptosis Induced by Endoplasmic Reticulum Stress Is Regulated by ATF4-CHOP-Mediated Induction of the Bcl-2 Homology 3-Only Member PUMA

(2010) Z. Galehdar et al.   JOURNAL OF NEUROSCIENCE

Evidence of endoplasmic reticular stress in the spinal motor neurons exposed to CSF from sporadic amyotrophic lateral sclerosis patients

(2010) K. Vijayalakshmi et al.   NEUROBIOLOGY OF DISEASE

Dementia and cognitive impairment in amyotrophic lateral sclerosis: a review

(2010) Maria Teresa Giordana et al.   NEUROLOGICAL SCIENCES

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

Transactivation Response DNA-Binding Protein 43 Microvasculopathy in Frontotemporal Degeneration and Familial Lewy Body Disease

(2009) Wen-Lang Lin et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

(2009) Smita Saxena et al.   NATURE NEUROSCIENCE

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

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

Impaired ubiquitin–proteasome system activity in the synapses of Huntington's disease mice

(2008) Jianjun Wang et al.   JOURNAL OF CELL BIOLOGY

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

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