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

Molecular Mechanisms of TDP-43 Misfolding and Pathology in Amyotrophic Lateral Sclerosis

(2019) Archana Prasad et al.   Frontiers in Molecular Neuroscience

Caspase-4 mediates cytoplasmic accumulation of TDP-43 in the primate brains

(2019) Peng Yin et al.   ACTA NEUROPATHOLOGICA

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

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

(2018) Qiang Guo et al.   CELL

Phase Separation of FUS Is Suppressed by Its Nuclear Import Receptor and Arginine Methylation

(2018) Mario Hofweber et al.   CELL

Nuclear-Import Receptors Reverse Aberrant Phase Transitions of RNA-Binding Proteins with Prion-like Domains

(2018) Lin 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

Xpo7 is a broad-spectrum exportin and a nuclear import receptor

(2018) Metin Aksu et al.   JOURNAL OF CELL BIOLOGY

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

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

UbiSite approach for comprehensive mapping of lysine and N-terminal ubiquitination sites

(2018) Vyacheslav Akimov et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

UbiSite approach for comprehensive mapping of lysine and N-terminal ubiquitination sites

(2018) Vyacheslav Akimov et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Nuclear egress of TDP-43 and FUS occurs independently of Exportin-1/CRM1

(2018) Helena Ederle et al.   Scientific Reports

TDP43 nuclear export and neurodegeneration in models of amyotrophic lateral sclerosis and frontotemporal dementia

(2018) Hilary C. Archbold et al.   Scientific Reports

A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration

(2018) Daniel A Solomon et al.   BRAIN

Identification and characterization of ubiquitinylation sites in TAR DNA-binding protein of 43kDa (TDP-43)

(2018) Friederike Hans et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Propagation and spread of pathogenic protein assemblies in neurodegenerative diseases

(2018) Mathias Jucker et al.   NATURE NEUROSCIENCE

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

(2018) Petra Frick et al.   Acta Neuropathologica Communications

TDP-43 and FUS en route from the nucleus to the cytoplasm

(2017) Helena Ederle et al.   FEBS LETTERS

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

(2017) Youn-Bok Lee et al.   HUMAN MOLECULAR GENETICS

Nuclear inclusion bodies of mutant and wild-type p53 in cancer: a hallmark of p53 inactivation and proteostasis remodelling by p53 aggregation

(2017) Frederik De Smet et al.   JOURNAL OF PATHOLOGY

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

Site-specific identification and quantitation of endogenous SUMO modifications under native conditions

(2017) Ryan J. Lumpkin et al.   Nature Communications

Impaired protein degradation in FTLD and related disorders

(2016) Julia K. Götzl et al.   AGEING RESEARCH REVIEWS

Timing and significance of pathological features inC9orf72expansion-associated frontotemporal dementia

(2016) Sarat C. Vatsavayai et al.   BRAIN

An amyloid-like cascade hypothesis for C9orf72 ALS/FTD

(2016) Dieter Edbauer et al.   CURRENT OPINION IN NEUROBIOLOGY

The Glycine-Alanine Dipeptide Repeat from C9orf72 Hexanucleotide Expansions Forms Toxic Amyloids Possessing Cell-to-Cell Transmission Properties

(2016) Yu-Jen Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2016) Yong-Jie Zhang et al.   NATURE NEUROSCIENCE

C9orf72 BAC Mouse Model with Motor Deficits and Neurodegenerative Features of ALS/FTD

(2016) Yuanjing Liu et al.   NEURON

Cell-to-Cell Transmission of Dipeptide Repeat Proteins Linked to C9orf72 -ALS/FTD

(2016) Thomas Westergard et al.   Cell Reports

Distinct C9orf72-Associated Dipeptide Repeat Structures Correlate with Neuronal Toxicity

(2016) Brittany N. Flores et al.   PLoS One

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

(2016) Steven Boeynaems et al.   Scientific Reports

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

(2015) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Functional recovery in new mouse models of ALS/FTLD after clearance of pathological cytoplasmic TDP-43

(2015) Adam K. Walker et al.   ACTA NEUROPATHOLOGICA

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

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

(2015) Brian D. Freibaum et al.   NATURE

Tau-driven 26S proteasome impairment and cognitive dysfunction can be prevented early in disease by activating cAMP-PKA signaling

(2015) Natura Myeku et al.   NATURE MEDICINE

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

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

(2015) Emma L. Scotter et al.   Neurotherapeutics

cAMP-induced phosphorylation of 26S proteasomes on Rpn6/PSMD11 enhances their activity and the degradation of misfolded proteins

(2015) Sudarsanareddy Lokireddy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

(2015) J. Chew et al.   SCIENCE

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

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

Antisense Proline-Arginine RAN Dipeptides Linked to C9ORF72-ALS/FTD Form Toxic Nuclear Aggregates that Initiate In Vitro and In Vivo Neuronal Death

(2014) Xinmei Wen et al.   NEURON

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

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

Slippery Substrates Impair ATP-dependent Protease Function by Slowing Unfolding

(2013) Daniel A. Kraut   JOURNAL OF BIOLOGICAL CHEMISTRY

Near-infrared fluorescent proteins for multicolor in vivo imaging

(2013) Daria M Shcherbakova et al.   NATURE METHODS

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

(2013) Shuo-Chien Ling 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

Motor Neuron-specific Disruption of Proteasomes, but Not Autophagy, Replicates Amyotrophic Lateral Sclerosis

(2012) Yoshitaka Tashiro et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Increased proteasome activity in human embryonic stem cells is regulated by PSMD11

(2012) David Vilchez et al.   NATURE

Rodent Models of TDP-43 Proteinopathy: Investigating the Mechanisms of TDP-43-Mediated Neurodegeneration

(2011) Tania F. Gendron et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Systematic and Quantitative Assessment of the Ubiquitin-Modified Proteome

(2011) Woong Kim et al.   MOLECULAR CELL

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

(2011) James R Tollervey et al.   NATURE NEUROSCIENCE

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

Cytoplasmic Accumulation and Aggregation of TDP-43 upon Proteasome Inhibition in Cultured Neurons

(2011) Janet van Eersel et al.   PLoS One

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

(2010) Agnes L. Nishimura et al.   BRAIN

Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

(2009) Felix Geser et al.   ARCHIVES OF NEUROLOGY

Stress-mediated nuclear stabilization of p53 is regulated by ubiquitination and importin-α3 binding

(2009) N D Marchenko et al.   CELL DEATH AND DIFFERENTIATION

Expression of TDP-43 C-terminal Fragmentsin VitroRecapitulates Pathological Features of TDP-43 Proteinopathies

(2009) Lionel M. Igaz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Masking of a Nuclear Signal Motif by Monoubiquitination Leads to Mislocalization and Degradation of the Regulatory Enzyme Cytidylyltransferase

(2009) B. B. Chen et al.   MOLECULAR AND CELLULAR BIOLOGY

Aberrant cleavage of TDP-43 enhances aggregation and cellular toxicity

(2009) Y.-J. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disturbance of Nuclear and Cytoplasmic TAR DNA-binding Protein (TDP-43) Induces Disease-like Redistribution, Sequestration, and Aggregate Formation

(2008) Matthew J. Winton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY