C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import

ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair

(2019) Joseph R. Klim et al.   NATURE NEUROSCIENCE

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration

(2019) Ze’ev Melamed et al.   NATURE NEUROSCIENCE

Heterochromatin anomalies and double-stranded RNA accumulation underlie C9orf72 poly(PR) toxicity

(2019) Yong-Jie Zhang et al.   SCIENCE

Genetic Convergence Brings Clarity to the Enigmatic Red Line in ALS

(2019) Casey Cook et al.   NEURON

RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43

(2019) Jacob R. Mann et al.   NEURON

Nucleocytoplasmic transport defects in neurodegeneration — Cause or consequence?

(2019) Saskia Hutten et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

DEAD-box ATPases are global regulators of phase-separated organelles

(2019) Maria Hondele et al.   NATURE

C9orf72-generated poly-GR and poly-PR do not directly interfere with nucleocytoplasmic transport

(2019) Joni Vanneste et al.   Scientific Reports

Surface Properties Determining Passage Rates of Proteins through Nuclear Pores

(2018) Steffen Frey et al.   CELL

Nuclear Import Receptor Inhibits Phase Separation of FUS through Binding to Multiple Sites

(2018) Takuya Yoshizawa 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

FUS Phase Separation Is Modulated by a Molecular Chaperone and Methylation of Arginine Cation-π Interactions

(2018) Seema Qamar et al.   CELL

CRISPR–Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity

(2018) Nicholas J. Kramer et al.   NATURE GENETICS

Poly(GR) impairs protein translation and stress granule dynamics in C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis

(2018) Yong-Jie Zhang et al.   NATURE MEDICINE

RNA buffers the phase separation behavior of prion-like RNA binding proteins

(2018) Shovamayee Maharana et al.   SCIENCE

mRNA structure determines specificity of a polyQ-driven phase separation

(2018) Erin M. Langdon et al.   SCIENCE

Tau Protein Disrupts Nucleocytoplasmic Transport in Alzheimer’s Disease

(2018) Bahareh Eftekharzadeh et al.   NEURON

Importin α: functions as a nuclear transport factor and beyond

(2018) Masahiro OKA et al.   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

The cargo spectrum of nuclear transport receptors

(2018) Imke Baade et al.   CURRENT OPINION IN CELL BIOLOGY

Karyopherins regulate nuclear pore complex barrier and transport function

(2017) Larisa E. Kapinos et al.   JOURNAL OF CELL BIOLOGY

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

Biomolecular condensates: organizers of cellular biochemistry

(2017) Salman F. Banani et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutant Huntingtin Disrupts the Nuclear Pore Complex

(2017) Jonathan C. Grima et al.   NEURON

Toxic PRnpoly-dipeptides encoded by theC9orf72repeat expansion block nuclear import and export

(2017) Kevin Y. Shi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

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

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

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

(2016) Bahram Khosravi et al.   HUMAN MOLECULAR GENETICS

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

Simple rules for passive diffusion through the nuclear pore complex

(2016) Benjamin L. Timney et al.   JOURNAL OF CELL BIOLOGY

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

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

Transport Selectivity of Nuclear Pores, Phase Separation, and Membraneless Organelles

(2016) H. Broder Schmidt et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

(2016) Steven Boeynaems et al.   Scientific Reports

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

(2015) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Nuclear localization signals for four distinct karyopherin-β nuclear import systems

(2015) Michael Soniat et al.   BIOCHEMICAL JOURNAL

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD

(2015) Angelica Nordin et al.   HUMAN MOLECULAR GENETICS

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

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

(2015) Ana Jovičić et al.   NATURE NEUROSCIENCE

Cytoplasmic protein aggregates interfere with nucleocytoplasmic transport of protein and RNA

(2015) A. C. Woerner et al.   SCIENCE

TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD

(2015) J. P. Ling et al.   SCIENCE

Post-translationalO-GlcNAcylation is essential for nuclear pore integrity and maintenance of the pore selectivity filter

(2015) Yanping Zhu et al.   Journal of Molecular Cell Biology

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

PredictProtein—an open resource for online prediction of protein structural and functional features

(2014) Guy Yachdav et al.   NUCLEIC ACIDS RESEARCH

The neuropathology associated with repeat expansions in the C9ORF72 gene

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

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

(2013) Ian R. Mackenzie 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

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

(2013) O. Dols-Icardo et al.   HUMAN MOLECULAR GENETICS

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

(2013) M. van Blitterswijk et al.   NEUROLOGY

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

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

Sequence and structural analyses of nuclear export signals in the NESdb database

(2012) Darui Xu et al.   MOLECULAR BIOLOGY OF THE CELL

The Proteomics Identifications (PRIDE) database and associated tools: status in 2013

(2012) Juan Antonio Vizcaíno et al.   NUCLEIC ACIDS RESEARCH

Self-regulated viscous channel in the nuclear pore complex

(2012) J. Ma et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Importazole, a Small Molecule Inhibitor of the Transport Receptor Importin-β

(2011) Jonathan F. Soderholm et al.   ACS Chemical 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

The interface between transcription and mRNP export: From THO to THSC/TREX-2

(2010) Ana G. Rondón et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

The importin β binding domain as a master regulator of nucleocytoplasmic transport

(2010) Kaylen Lott et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Nuclear Size Is Regulated by Importin α and Ntf2 in Xenopus

(2010) Daniel L. Levy et al.   CELL

The design of Förster (fluorescence) resonance energy transfer (FRET)-based molecular sensors for Ran GTPase

(2010) Petr Kaláb et al.   METHODS

A Bimodal Distribution of Two Distinct Categories of Intrinsically Disordered Structures with Separate Functions in FG Nucleoporins

(2010) Justin Yamada et al.   MOLECULAR & CELLULAR PROTEOMICS

Multiple reprobing of Western blots after inactivation of peroxidase activity by its substrate, hydrogen peroxide

(2009) Alexis D. Sennepin et al.   ANALYTICAL BIOCHEMISTRY

Characterisation of the passive permeability barrier of nuclear pore complexes

(2009) Dagmar Mohr et al.   EMBO JOURNAL

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH