C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis

(2021) Arpan R. Mehta et al.   ACTA NEUROPATHOLOGICA

RNA transport and local translation in neurodevelopmental and neurodegenerative disease

(2021) Michael S. Fernandopulle et al.   NATURE NEUROSCIENCE

The tubulin code and its role in controlling microtubule properties and functions

(2020) Carsten Janke et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Knocking out C9ORF72 Exacerbates Axonal Trafficking Defects Associated with Hexanucleotide Repeat Expansion and Reduces Levels of Heat Shock Proteins

(2020) Masin Abo-Rady et al.   Stem Cell Reports

Amyotrophic lateral sclerosis: a clinical review

(2020) P. Masrori et al.   EUROPEAN JOURNAL OF NEUROLOGY

C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy

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

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

Microtubules Deform the Nuclear Membrane and Disrupt Nucleocytoplasmic Transport in Tau-Mediated Frontotemporal Dementia

(2019) Francesco Paonessa et al.   Cell Reports

Disrupted neuronal trafficking in amyotrophic lateral sclerosis

(2019) Katja Burk et al.   ACTA NEUROPATHOLOGICA

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

(2019) So Yoen Choi et al.   NATURE NEUROSCIENCE

RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats

(2019) Shizuka B. Yamada et al.   NATURE NEUROSCIENCE

Axonal transport defects and neurodegeneration: Molecular mechanisms and therapeutic implications

(2019) Wenting Guo et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Role of Tau as a Microtubule-Associated Protein: Structural and Functional Aspects

(2019) Pascale Barbier et al.   Frontiers in Aging Neuroscience

Mutant C9orf72 human iPSC‐derived astrocytes cause non‐cell autonomous motor neuron pathophysiology

(2019) Chen Zhao et al.   GLIA

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

(2018) Bart Swinnen et al.   ACTA NEUROPATHOLOGICA

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

Age-dependent neurodegeneration and organelle transport deficiencies in mutant TDP43 patient-derived neurons are independent of TDP43 aggregation

(2018) N. Kreiter et al.   NEUROBIOLOGY OF DISEASE

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

(2018) Aude Nicolas et al.   NEURON

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

(2018) Bhuvaneish T. Selvaraj et al.   Nature Communications

C9orf72-mediated ALS and FTD: multiple pathways to disease

(2018) Rubika Balendra et al.   Nature Reviews Neurology

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

(2017) Steven Boeynaems et al.   MOLECULAR CELL

The cholesterol metabolite 27 hydroxycholesterol facilitates breast cancer metastasis through its actions on immune cells

(2017) Amy E. Baek et al.   Nature Communications

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

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

How dynein and dynactin transport cargos: a structural perspective

(2016) Andrew P Carter et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

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

(2016) Kohsuke Kanekura et al.   HUMAN MOLECULAR GENETICS

Axonal transport defects are a common phenotype inDrosophilamodels of ALS

(2016) Katie R. Baldwin et al.   HUMAN MOLECULAR GENETICS

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

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

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

Reducing Lissencephaly-1 levels augments mitochondrial transport and has a protective effect in adultDrosophilaneurons

(2015) Alessio Vagnoni et al.   JOURNAL OF CELL SCIENCE

Frontotemporal dementia

(2015) Jee Bang et al.   LANCET

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

Differential Toxicity of Nuclear RNA Foci versus Dipeptide Repeat Proteins in a Drosophila Model of C9ORF72 FTD/ALS

(2015) Helene Tran et al.   NEURON

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues

(2014) Ione O. C. Woollacott et al.   ACTA NEUROPATHOLOGICA

In vitroreconstitution of a highly processive recombinant human dynein complex

(2014) Max A Schlager et al.   EMBO JOURNAL

Accurate Proteome-wide Label-free Quantification by Delayed Normalization and Maximal Peptide Ratio Extraction, Termed MaxLFQ

(2014) Jürgen Cox et al.   MOLECULAR & CELLULAR PROTEOMICS

Combinatorial analysis of developmental cues efficiently converts human pluripotent stem cells into multiple neuronal subtypes

(2014) Yves Maury et al.   NATURE BIOTECHNOLOGY

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

Axonal Transport of TDP-43 mRNA Granules Is Impaired by ALS-Causing Mutations

(2014) Nael H. Alami et al.   NEURON

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

(2014) Bradley N. Smith et al.   NEURON

Optimized CRISPR/Cas tools for efficient germline and somatic genome engineering in Drosophila

(2014) F. Port et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

(2013) Marka van Blitterswijk et al.   LANCET NEUROLOGY

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

TRAK/Milton Motor-Adaptor Proteins Steer Mitochondrial Trafficking to Axons and Dendrites

(2013) Myrrhe van Spronsen et al.   NEURON

A Novel Drosophila Model of Nerve Injury Reveals an Essential Role of Nmnat in Maintaining Axonal Integrity

(2012) Yanshan Fang et al.   CURRENT BIOLOGY

The axonal transport of mitochondria

(2012) W. M. Saxton et al.   JOURNAL OF CELL SCIENCE

HDAC6 inhibitors reverse axonal loss in a mouse model of mutant HSPB1–induced Charcot-Marie-Tooth disease

(2011) Constantin d'Ydewalle et al.   NATURE MEDICINE

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

Differential Regulation of Dynein and Kinesin Motor Proteins by Tau

(2008) R. Dixit et al.   SCIENCE