Proximity proteomics of C9orf72 dipeptide repeat proteins identifies molecular chaperones as modifiers of poly-GA aggregation

J-domain proteins interaction with neurodegenerative disease-related proteins

(2021) Sara María Ayala Mariscal et al.   EXPERIMENTAL CELL RESEARCH

The p97-UBXN1 complex regulates aggresome formation

(2021) Sirisha Mukkavalli et al.   JOURNAL OF CELL SCIENCE

Emerging Perspectives on Dipeptide Repeat Proteins in C9ORF72 ALS/FTD

(2021) Alexander Schmitz et al.   Frontiers in Cellular Neuroscience

C9orf72-associated arginine-rich dipeptide repeats induce RNA-dependent nuclear accumulation of Staufen in neurons

(2021) Eun Seon Kim et al.   HUMAN MOLECULAR GENETICS

UBQLN2-HSP70 axis reduces poly-Gly-Ala aggregates and alleviates behavioral defects in the C9ORF72 animal model

(2021) Kejing Zhang et al.   NEURON

Autophagy and ALS: mechanistic insights and therapeutic implications

(2021) Jason P. Chua et al.   Autophagy

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

(2021) Janja Božič et al.   BRAIN

Therapeutic strategies for C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia

(2021) Guillaume M. Hautbergue et al.   CURRENT OPINION IN NEUROLOGY

Ubiquitination of G3BP1 mediates stress granule disassembly in a context-specific manner

(2021) Youngdae Gwon et al.   SCIENCE

DNAJB6 suppresses alpha-synuclein induced pathology in an animal model of Parkinson's disease

(2021) Sertan Arkan et al.   NEUROBIOLOGY OF DISEASE

DNAJB6b-enriched small extracellular vesicles decrease polyglutamine aggregation in in vitro and in vivo models of Huntington disease

(2021) Bhagyashree S. Joshi et al.   iScience

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

(2020) Jaakko Sarparanta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Proximity dependent biotinylation: key enzymes and adaptation to proteomics approaches

(2020) Payman Samavarchi-Tehrani et al.   MOLECULAR & CELLULAR PROTEOMICS

Cell‐to‐cell transmission of C9orf72 poly‐(Gly‐Ala) triggers key features of ALS / FTD

(2020) Bahram Khosravi et al.   EMBO JOURNAL

Synaptic dysfunction induced by glycine‐alanine dipeptides in C9orf72‐ ALS / FTD is rescued by SV 2 replenishment

(2020) Brigid K Jensen et al.   EMBO Molecular Medicine

Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36

(2020) Zachary T. McEachin et al.   NEURON

Co-chaperones DNAJA1 and DNAJB6 are critical for regulation of polyglutamine aggregation

(2020) Claudio Rodríguez-González et al.   Scientific Reports

Congenic expression of poly-GA but not poly-PR in mice triggers selective neuron loss and interferon responses found in C9orf72 ALS

(2020) Katherine D. LaClair et al.   ACTA NEUROPATHOLOGICA

G4C2 Repeat RNA Initiates a POM121-Mediated Reduction in Specific Nucleoporins in C9orf72 ALS/FTD

(2020) Alyssa N. Coyne et al.   NEURON

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

(2020) Casey N. Cook et al.   Science Translational Medicine

Spatiotemporal Proteomic Analysis of Stress Granule Disassembly Using APEX Reveals Regulation by SUMOylation and Links to ALS Pathogenesis

(2020) Hagai Marmor-Kollet et al.   MOLECULAR CELL

diaPASEF: parallel accumulation–serial fragmentation combined with data-independent acquisition

(2020) Florian Meier et al.   NATURE METHODS

C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A

(2019) Thomas G. Moens et al.   ACTA NEUROPATHOLOGICA

The Roles of Ubiquitin-Binding Protein Shuttles in the Degradative Fate of Ubiquitinated Proteins in the Ubiquitin-Proteasome System and Autophagy

(2019) Katarzyna Zientara-Rytter et al.   Cells

HR23B pathology preferentially co-localizes with p62, pTDP-43 and poly-GA in C9ORF72-linked frontotemporal dementia and amyotrophic lateral sclerosis

(2019) Frederike W. Riemslagh et al.   Acta Neuropathologica Communications

Evolving Evidence of Calreticulin as a Pharmacological Target in Neurological Disorders

(2019) Vignesh Kotian et al.   ACS Chemical Neuroscience

C9orf72 Poly(PR) Dipeptide Repeats Disturb Biomolecular Phase Separation and Disrupt Nucleolar Function

(2019) Michael R. White et al.   MOLECULAR CELL

g:Profiler: a web server for functional enrichment analysis and conversions of gene lists (2019 update)

(2019) Uku Raudvere et al.   NUCLEIC ACIDS RESEARCH

The Molecular Chaperone DNAJB6, but Not DNAJB1, Suppresses the Seeded Aggregation of Alpha-Synuclein in Cells

(2019) Natasja Deshayes et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Poly-glycine–alanine exacerbates C9orf72 repeat expansion-mediated DNA damage via sequestration of phosphorylated ATM and loss of nuclear hnRNPA3

(2019) Yoshihiro Nihei et al.   ACTA NEUROPATHOLOGICA

C9ORF72 protein function and immune dysregulation in amyotrophic lateral sclerosis

(2019) Jesse D. Lai et al.   NEUROSCIENCE LETTERS

Active poly‐GA vaccination prevents microglia activation and motor deficits in a C9orf72 mouse model

(2019) Qihui Zhou et al.   EMBO Molecular Medicine

Antibody Therapy Targeting RAN Proteins Rescues C9 ALS/FTD Phenotypes in C9orf72 Mouse Model

(2019) Lien Nguyen et al.   NEURON

HSP70 and HSP90 in neurodegenerative diseases

(2019) Abha Gupta et al.   NEUROSCIENCE LETTERS

In Situ Structure of Neuronal C9orf72 Poly-GA Aggregates Reveals Proteasome Recruitment

(2018) Qiang Guo et al.   CELL

C9ORF72 dipeptide repeat poly-GA inclusions promote intracellular aggregation of phosphorylated TDP-43

(2018) Takashi Nonaka et al.   HUMAN MOLECULAR GENETICS

The VCP-UBXN1 complex mediates triage of ubiquitylated cytosolic proteins bound to the BAG6 complex.

(2018) Rakesh Ganji et al.   MOLECULAR AND CELLULAR BIOLOGY

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

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

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

(2018) Daniel A. Mordes et al.   Acta Neuropathologica Communications

Efficient proximity labeling in living cells and organisms with TurboID

(2018) Tess C Branon et al.   NATURE BIOTECHNOLOGY

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

Glycine-alanine dipeptide repeat protein contributes to toxicity in a zebrafish model of C9orf72 associated neurodegeneration

(2017) Yu Ohki et al.   Molecular Neurodegeneration

DNAJ Proteins in neurodegeneration: essential and protective factors

(2017) Christina Zarouchlioti et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72 -associated amyotrophic lateral sclerosis

(2017) Tania F. Gendron et al.   Science Translational Medicine

Evidence that C9ORF72 Dipeptide Repeat Proteins Associate with U2 snRNP to Cause Mis-splicing in ALS/FTD Patients

(2017) Shanye Yin et al.   Cell Reports

Disease Mechanisms of C9ORF72 Repeat Expansions

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

The Role of the Multifunctional BAG3 Protein in Cellular Protein Quality Control and in Disease

(2017) Elisabeth Stürner et al.   Frontiers in Molecular Neuroscience

The Role of Dipeptide Repeats in C9ORF72-Related ALS-FTD

(2017) Brian D. Freibaum et al.   Frontiers in Molecular Neuroscience

The molecular chaperones DNAJB6 and Hsp70 cooperate to suppress α-synuclein aggregation

(2017) Francesco A. Aprile et al.   Scientific Reports

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

(2016) Han-Jou Chen et al.   BRAIN

Timing and significance of pathological features inC9orf72expansion-associated frontotemporal dementia

(2016) Sarat C. Vatsavayai et al.   BRAIN

C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles

(2016) Kyung-Ha Lee et al.   CELL

Toxic PR Poly-Dipeptides Encoded by the C9orf72 Repeat Expansion Target LC Domain Polymers

(2016) Yi Lin et al.   CELL

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy

(2016) Chrisovalantis Papadopoulos et al.   EMBO JOURNAL

Cytoplasmic poly-GA aggregates impair nuclear import of TDP-43 in C9orf72 ALS/FTLD

(2016) Bahram Khosravi et al.   HUMAN MOLECULAR GENETICS

Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation

(2016) Kohsuke Kanekura et al.   HUMAN MOLECULAR GENETICS

Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

(2016) Ian R. A. Mackenzie et al.   JOURNAL OF NEUROCHEMISTRY

An improved smaller biotin ligase for BioID proximity labeling

(2016) Dae In Kim et al.   MOLECULAR BIOLOGY OF THE CELL

C9ORF72 poly(GA) aggregates sequester and impair HR23 and nucleocytoplasmic transport proteins

(2016) Yong-Jie Zhang et al.   NATURE 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

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

(2015) Martin H. Schludi et al.   ACTA NEUROPATHOLOGICA

Accumulation of dipeptide repeat proteins predates that of TDP-43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions inC9ORF72gene

(2015) Atik Baborie et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

(2014) Yong-Jie Zhang et al.   ACTA NEUROPATHOLOGICA

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

MSstats: an R package for statistical analysis of quantitative mass spectrometry-based proteomic experiments

(2014) Meena Choi et al.   BIOINFORMATICS

Characterization of the dipeptide repeat protein in the molecular pathogenesis of c9FTD/ALS

(2014) Mai Yamakawa et al.   HUMAN MOLECULAR GENETICS

STRING v10: protein–protein interaction networks, integrated over the tree of life

(2014) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Probing nuclear pore complex architecture with proximity-dependent biotinylation

(2014) D. I. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Poly-dipeptides encoded by the C9orf72 repeats bind nucleoli, impede RNA biogenesis, and kill cells

(2014) I. Kwon et al.   SCIENCE

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

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

The DNAJB6 and DNAJB8 Protein Chaperones Prevent Intracellular Aggregation of Polyglutamine Peptides

(2013) Judith Gillis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

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

(2013) Peter E.A. Ash et al.   NEURON

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

(2013) K. Mori et al.   SCIENCE

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

(2013) David MA Mann et al.   Acta Neuropathologica Communications

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

(2012) Julien Couthouis et al.   HUMAN MOLECULAR GENETICS

A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells

(2012) Kyle J. Roux et al.   JOURNAL OF CELL BIOLOGY

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

(2011) Manuela Neumann et al.   BRAIN

p62 targeting to the autophagosome formation site requires self-oligomerization but not LC3 binding

(2011) Eisuke Itakura et al.   JOURNAL OF CELL BIOLOGY

Hydrogen peroxide decreases the survival rate of HeLa cells with stable knockdown of survival motor neuron protein

(2011) Ting-Yuan Liu et al.   KAOHSIUNG JOURNAL OF MEDICAL SCIENCES

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

A DNAJB Chaperone Subfamily with HDAC-Dependent Activities Suppresses Toxic Protein Aggregation

(2010) Jurre Hageman et al.   MOLECULAR CELL

Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders

(2009) Patricia Lillo et al.   JOURNAL OF CLINICAL NEUROSCIENCE

BioVenn – a web application for the comparison and visualization of biological lists using area-proportional Venn diagrams

(2008) Tim Hulsen et al.   BMC GENOMICS

Computational analysis of the human HSPH/HSPA/DNAJ family and cloning of a human HSPH/HSPA/DNAJ expression library

(2008) Jurre Hageman et al.   CELL STRESS & CHAPERONES