Nucleolar stress in C9orf72 and sporadic ALS spinal motor neurons precedes TDP-43 mislocalization

C9orf72 suppresses systemic and neural inflammation induced by gut bacteria

(2020) Aaron Burberry et al.   NATURE

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

(2020) Qiang Zhu et al.   NATURE NEUROSCIENCE

C9orf72 deficiency promotes motor deficits of a C9ALS/FTD mouse model in a dose-dependent manner

(2019) Qiang Shao et al.   Acta Neuropathologica Communications

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy

(2019) Jeannie Chew et al.   Molecular Neurodegeneration

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

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

C9ORF72-ALS/FTD-associated poly(GR) binds Atp5a1 and compromises mitochondrial function in vivo

(2019) So Yoen Choi et al.   NATURE NEUROSCIENCE

Nucleocytoplasmic transport defects in neurodegeneration — Cause or consequence?

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

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

(2018) Bart Swinnen et al.   ACTA NEUROPATHOLOGICA

Transcriptome–pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS

(2018) Florian Krach et al.   ACTA NEUROPATHOLOGICA

Stress Granule Assembly Disrupts Nucleocytoplasmic Transport

(2018) Ke Zhang et al.   CELL

C9orf72-associated neurodegeneration in ALS-FTD: breaking new ground in ribosomal RNA and nucleolar dysfunction

(2018) Dustin Herrmann et al.   CELL AND TISSUE RESEARCH

Expression of C9orf72-related dipeptides impairs motor function in a vertebrate model

(2018) Amrutha Swaminathan et al.   HUMAN MOLECULAR GENETICS

The vulnerability of spinal motoneurons and soma size plasticity in a mouse model of amyotrophic lateral sclerosis

(2018) S. Shekar Dukkipati et al.   JOURNAL OF PHYSIOLOGY-LONDON

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

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

C9orf72-FTD/ALS pathogenesis: evidence from human neuropathological studies

(2018) Sarat C. Vatsavayai et al.   ACTA NEUROPATHOLOGICA

Neurons selectively targeted in frontotemporal dementia reveal early stage TDP-43 pathobiology

(2018) Alissa L. Nana et al.   ACTA NEUROPATHOLOGICA

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

RNA phase transitions in repeat expansion disorders

(2017) Ankur Jain et al.   NATURE

Orexin activation counteracts decreases in nonexercise activity thermogenesis (NEAT) caused by high-fat diet

(2017) P.E. Bunney et al.   PHYSIOLOGY & BEHAVIOR

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

Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration

(2017) Sarah Mizielinska et al.   Acta Neuropathologica Communications

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

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

(2016) Chantal Sellier et al.   EMBO JOURNAL

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

(2016) Kohsuke Kanekura et al.   HUMAN MOLECULAR GENETICS

Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

(2016) Janet Ugolino et al.   PLoS Genetics

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

(2016) Steven Boeynaems et al.   Scientific Reports

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

(2015) Johnathan Cooper-Knock 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

FTD/ALS-associated poly(GR) protein impairs the Notch pathway and is recruited by poly(GA) into cytoplasmic inclusions

(2015) Dejun Yang et al.   ACTA NEUROPATHOLOGICA

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity

(2015) Zhouteng Tao 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

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

(2015) Jacqueline G. O’Rourke et al.   NEURON

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

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord

(2014) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Three major nucleolar proteins migrate from nucleolus to nucleoplasm and cytoplasm in root tip cells of Vicia faba L. exposed to aluminum

(2014) Rong Qin et al.   ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

(2014) Manal A. Farg et al.   HUMAN MOLECULAR GENETICS

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

(2014) Mai Yamakawa et al.   HUMAN MOLECULAR GENETICS

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

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

Stress granules as crucibles of ALS pathogenesis

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

von Economo neurones are selectively targeted in frontotemporal dementia

(2013) A. F. Santillo et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Sex Differences in the Number and Size of Motoneurons Innervating Rat Medial Gastrocnemius Muscle

(2013) B. Mierzejewska-Krzyżowska et al.   ANATOMIA HISTOLOGIA EMBRYOLOGIA

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

Effects of gender in amyotrophic lateral sclerosis

(2010) Pamela A. McCombe et al.   Gender Medicine

Tar DNA Binding Protein-43 (TDP-43) Associates with Stress Granules: Analysis of Cultured Cells and Pathological Brain Tissue

(2010) Liqun Liu-Yesucevitz et al.   PLoS One

Non-ATG-initiated translation directed by microsatellite expansions

(2010) T. Zu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gamma and alpha motor neurons distinguished by expression of transcription factor Err3

(2009) A. Friese et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA