GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport

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

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

Nuclear Trafficking in Health and Disease

(2014) Amir Mor et al.   CURRENT OPINION IN CELL BIOLOGY

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis

(2014) Hannah M. Kaneb et al.   HUMAN MOLECULAR GENETICS

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

C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins

(2014) S. Mizielinska et al.   SCIENCE

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

(2014) I. Kwon et al.   SCIENCE

Regulation of mRNA Trafficking by Nuclear Pore Complexes

(2014) Amandine Bonnet et al.   Genes

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

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

Chtop is a component of the dynamic TREX mRNA export complex

(2013) Chung-Te Chang et al.   EMBO JOURNAL

VCP Is Essential for Mitochondrial Quality Control by PINK1/Parkin and this Function Is Impaired by VCP Mutations

(2013) Nam Chul Kim et al.   NEURON

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

(2013) Peter E.A. Ash et al.   NEURON

Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations

(2013) Zhijun Zhang et al.   PLoS One

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

(2013) Z. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion

(2013) D. Sareen et al.   Science Translational Medicine

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia

(2012) Marka van Blitterswijk et al.   CURRENT OPINION IN NEUROLOGY

The Nup153-Nup50 Protein Interface and Its Role in Nuclear Import

(2012) Masaki Makise et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

(2012) Jijun Wan et al.   NATURE GENETICS

Extremely Long-Lived Nuclear Pore Proteins in the Rat Brain

(2012) J. N. Savas et al.   SCIENCE

TREX exposes the RNA-binding domain of Nxf1 to enable mRNA export

(2012) Nicolas Viphakone et al.   Nature Communications

Induced Pluripotent Stem Cell Models of Progranulin-Deficient Frontotemporal Dementia Uncover Specific Reversible Neuronal Defects

(2012) Sandra Almeida et al.   Cell Reports

RanGTP is required for meiotic spindle organization and the initiation of embryonic development in Drosophila

(2011) J. Cesario et al.   JOURNAL OF CELL SCIENCE

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

Constructing and Deconstructing Stem Cell Models of Neurological Disease

(2011) Steve S.W. Han et al.   NEURON

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

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease

(2008) Heidi O Nousiainen et al.   NATURE GENETICS