Protein Disulphide Isomerases: emerging roles of PDI and ERp57 in the nervous system and as therapeutic targets for ALS

Protein folding alterations in amyotrophic lateral sclerosis

(2016) Sonam Parakh et al.   BRAIN RESEARCH

ALS‐linked protein disulfide isomerase variants cause motor dysfunction

(2016) Ute Woehlbier et al.   EMBO JOURNAL

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

(2016) Kevin P Kenna et al.   NATURE GENETICS

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

(2015) Paloma Gonzalez-Perez et al.   GENE

Polymorphisms in protein disulfide isomerase are associated with sporadic amyotrophic lateral sclerosis in the Chinese Han population

(2015) Qin Yang et al.   INTERNATIONAL JOURNAL OF NEUROSCIENCE

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Small molecule-induced oxidation of protein disulfide isomerase is neuroprotective

(2015) Anna Kaplan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional Role of the Disulfide Isomerase ERp57 in Axonal Regeneration

(2015) Valentina Castillo et al.   PLoS One

Different redox sensitivity of endoplasmic reticulum associated degradation clients suggests a novel role for disulphide bonds in secretory proteins

(2014) Iria Medraño-Fernandez et al.   Biochemistry and Cell Biology

Dissection of genetic factors associated with amyotrophic lateral sclerosis

(2014) Claire S. Leblond et al.   EXPERIMENTAL NEUROLOGY

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

(2014) Janel O Johnson et al.   NATURE NEUROSCIENCE

Disturbance of endoplasmic reticulum proteostasis in neurodegenerative diseases

(2014) Claudio Hetz et al.   NATURE REVIEWS NEUROSCIENCE

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Protein Disulfide-Isomerase Interacts with a Substrate Protein at All Stages along Its Folding Pathway

(2014) Alistair G. Irvine et al.   PLoS One

Peptide disulfide RKCGCFF facilitates oxidative protein refolding by mimicking protein disulfide isomerase

(2013) Hu Liu et al.   BIOCHEMICAL ENGINEERING JOURNAL

Protein disulfide isomerase: a promising target for cancer therapy

(2013) Shili Xu et al.   DRUG DISCOVERY TODAY

Association studies indicate that protein disulfide isomerase is a risk factor in amyotrophic lateral sclerosis

(2013) Chun Tak Kwok et al.   FREE RADICAL BIOLOGY AND MEDICINE

Controversies and priorities in amyotrophic lateral sclerosis

(2013) Martin R Turner et al.   LANCET NEUROLOGY

Potential Effect of S-Nitrosylated Protein Disulfide Isomerase on Mutant SOD1 Aggregation and Neuronal Cell Death in Amyotrophic Lateral Sclerosis

(2013) Gye Sun Jeon et al.   MOLECULAR NEUROBIOLOGY

Genetics of amyotrophic lateral sclerosis: an update

(2013) Sheng Chen et al.   Molecular Neurodegeneration

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

(2013) Hong Joo Kim et al.   NATURE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The changing scene of amyotrophic lateral sclerosis

(2013) Wim Robberecht et al.   NATURE REVIEWS NEUROSCIENCE

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Distinct Changes in Synaptic Protein Composition at Neuromuscular Junctions of Extraocular Muscles versus Limb Muscles of ALS Donors

(2013) Jing-Xia Liu 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

Reticulon1-C modulates protein disulphide isomerase function

(2013) P Bernardoni et al.   Cell Death & Disease

Structural Insights into the Redox-Regulated Dynamic Conformations of Human Protein Disulfide Isomerase

(2012) Chao Wang et al.   ANTIOXIDANTS & REDOX SIGNALING

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

(2012) Véronique V Belzil et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

(2012) Chi-Hong Wu et al.   NATURE

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

Increasing MuSK Activity Delays Denervation and Improves Motor Function in ALS Mice

(2012) María J. Pérez-García et al.   Cell Reports

Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis

(2011) N. Ticozzi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Protein disulfide isomerase-immunopositive inclusions in patients with amyotrophic lateral sclerosis

(2011) Yasuyuki Honjo et al.   Amyotrophic Lateral Sclerosis

SQSTM1 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2011) Faisal Fecto   ARCHIVES OF NEUROLOGY

Cellular stress response pathways and ageing: intricate molecular relationships

(2011) Nikos Kourtis et al.   EMBO JOURNAL

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

(2011) Han-Xiang Deng et al.   NATURE

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

(2011) Laura Ferraiuolo et al.   Nature Reviews Neurology

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

Amyotrophic Lateral Sclerosis Multiprotein Biomarkers in Peripheral Blood Mononuclear Cells

(2011) Giovanni Nardo et al.   PLoS One

Protein Disulfide Isomerase and Host-Pathogen Interaction

(2011) Beatriz S. Stolf et al.   TheScientificWorldJOURNAL

The endoplasmic reticulum and protein trafficking in dendrites and axons

(2011) Omar A. Ramírez et al.   TRENDS IN CELL BIOLOGY

Current hypotheses for the underlying biology of amyotrophic lateral sclerosis

(2010) Jeffrey D. Rothstein   ANNALS OF NEUROLOGY

Protein disulfide isomerase-immunopositive inclusions in patients with Alzheimer disease

(2010) Yasuyuki Honjo et al.   BRAIN RESEARCH

Induction of the unfolded protein response and cell death pathway in Alzheimer's disease, but not in aged Tg2576 mice

(2010) Jin Hwan Lee et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

A structural overview of the PDI family of proteins

(2010) Guennadi Kozlov et al.   FEBS Journal

Functional Relationship between Protein Disulfide Isomerase Family Members during the Oxidative Folding of Human Secretory Proteins

(2010) Lori A. Rutkevich et al.   MOLECULAR BIOLOGY OF THE CELL

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

Inhibitors of protein disulfide isomerase suppress apoptosis induced by misfolded proteins

(2010) Benjamin G Hoffstrom et al.   Nature Chemical Biology

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

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

(2010) Karin Forsberg et al.   PLoS One

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

(2010) J. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Protein Disulfide Isomerase: A Critical Evaluation of Its Function in Disulfide Bond Formation

(2009) Feras Hatahet et al.   ANTIOXIDANTS & REDOX SIGNALING

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

(2009) Adam K. Walker et al.   BRAIN

Protein disulphide isomerase is required for signal peptide peptidase-mediated protein degradation

(2009) Seong-Ok Lee et al.   EMBO JOURNAL

Insights into MHC Class I Peptide Loading from the Structure of the Tapasin-ERp57 Thiol Oxidoreductase Heterodimer

(2009) Gang Dong et al.   IMMUNITY

Protein disulphide isomerase family members show distinct substrate specificity: P5 is targeted to BiP client proteins

(2009) C. E. Jessop et al.   JOURNAL OF CELL SCIENCE

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

Muscle Mitochondrial Uncoupling Dismantles Neuromuscular Junction and Triggers Distal Degeneration of Motor Neurons

(2009) Luc Dupuis 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

Selective Targeting of ER Exit Sites Supports Axon Development

(2009) Meir Aridor et al.   TRAFFIC

Increasing Melanoma Cell Death Using Inhibitors of Protein Disulfide Isomerases to Abrogate Survival Responses to Endoplasmic Reticulum Stress

(2008) P. E. Lovat et al.   CANCER RESEARCH

The Amyotrophic Lateral Sclerosis 8 Protein VAPB Is Cleaved, Secreted, and Acts as a Ligand for Eph Receptors

(2008) Hiroshi Tsuda et al.   CELL

Alternative Conformations of the x Region of Human Protein Disulphide-Isomerase Modulate Exposure of the Substrate Binding b’ Domain

(2008) Van Dat Nguyen et al.   JOURNAL OF MOLECULAR BIOLOGY

Biomarkers in amyotrophic lateral sclerosis

(2008) Martin R Turner et al.   LANCET NEUROLOGY

A functional equivalent of endoplasmic reticulum and Golgi in axons for secretion of locally synthesized proteins

(2008) Tanuja T. Merianda et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE

In Vivo Reduction-Oxidation State of Protein Disulfide Isomerase: The Two Active Sites Independently Occur in the Reduced and Oxidized Forms

(2007) Christian Appenzeller-Herzog et al.   ANTIOXIDANTS & REDOX SIGNALING