RAN Translation of the Expanded CAG Repeats in the SCA3 Disease Context

Reduced autophagy upon C9ORF72 loss synergizes with dipeptide repeat protein toxicity in G4C2 repeat expansion disorders

(2020) Manon Boivin et al.   EMBO JOURNAL

The Integrated Stress Response and Phosphorylated Eukaryotic Initiation Factor 2α in Neurodegeneration

(2020) Sarah Bond et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Repeat‐associated non‐AUG translation in C9orf72‐ALS/FTD is driven by neuronal excitation and stress

(2019) Thomas Westergard et al.   EMBO Molecular Medicine

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

(2019) Yong-Jie Zhang et al.   SCIENCE

Repeat-associated non-AUG (RAN) translation: insights from pathology

(2019) Monica Banez-Coronel et al.   LABORATORY INVESTIGATION

Repeat-Associated Non-ATG Translation: Molecular Mechanisms and Contribution to Neurological Disease

(2019) Lien Nguyen et al.   Annual Review of Neuroscience

eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS

(2019) Lindsey D. Goodman et al.   Acta Neuropathologica Communications

Repeat-associated RNA structure and aberrant splicing

(2019) Melissa A. Hale et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

DDX 3X and specific initiation factors modulate FMR 1 repeat‐associated non‐AUG‐initiated translation

(2019) Alexander E Linsalata et al.   EMBO REPORTS

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

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

Production of poly(GA) in C9ORF72 patient motor neurons derived from induced pluripotent stem cells

(2019) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

New pathologic mechanisms in nucleotide repeat expansion disorders

(2019) C.M. Rodriguez et al.   NEUROBIOLOGY OF DISEASE

Pathogenic Mechanisms and Therapy Development for C9orf72 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

(2019) Jie Jiang et al.   Neurotherapeutics

From Pathogenesis to Novel Therapeutics for Spinocerebellar Ataxia Type 3: Evading Potholes on the Way to Translation

(2019) Jorge Diogo Da Silva et al.   Neurotherapeutics

Pathogenesis of SCA3 and implications for other polyglutamine diseases

(2019) Hayley S. McLoughlin et al.   NEUROBIOLOGY OF DISEASE

CRISPR-Cas9 Screens Identify the RNA Helicase DDX3X as a Repressor of C9ORF72 (GGGGCC)n Repeat-Associated Non-AUG Translation

(2019) Weiwei Cheng et al.   NEURON

Repeat-associated non-AUG (RAN) translation and other molecular mechanisms in Fragile X Tremor Ataxia Syndrome

(2018) M. Rebecca Glineburg et al.   BRAIN RESEARCH

Mechanisms of protein toxicity in neurodegenerative diseases

(2018) Chang Geon Chung et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Machado-Joseph disease / Spinocerebellar ataxia type 3:lessons from disease pathogenesis and clues into therapy

(2018) Carlos Matos et al.   JOURNAL OF NEUROCHEMISTRY

Translation of dipeptide repeat proteins from the C9ORF72 expanded repeat is associated with cellular stress

(2018) Yoshifumi Sonobe et al.   NEUROBIOLOGY OF DISEASE

Repeat-Associated Non-ATG Translation in Neurological Diseases

(2018) Tao Zu et al.   Cold Spring Harbor Perspectives in Biology

C9ORF72 GGGGCC repeat-associated non-AUG translation is upregulated by stress through eIF2α phosphorylation

(2018) Weiwei Cheng et al.   Nature Communications

CUG initiation and frameshifting enable production of dipeptide repeat proteins from ALS/FTD C9ORF72 transcripts

(2018) Ricardos Tabet et al.   Nature Communications

Variants of the 5′-terminal region of p53 mRNA influence the ribosomal scanning and translation efficiency

(2018) Paulina Zydowicz-Machtel et al.   Scientific Reports

SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F

(2018) Fatma Ayhan et al.   EMBO JOURNAL

Protein misfolding, aggregation, and conformational strains in neurodegenerative diseases

(2018) Claudio Soto et al.   NATURE NEUROSCIENCE

Non-AUG translation: a new start for protein synthesis in eukaryotes

(2017) Michael G. Kearse et al.   GENES & DEVELOPMENT

Expanded polyalanine tracts function as nuclear export signals and promote protein mislocalization via eEF1A1 factor

(2017) Li Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Polyglutamine-Expanded Huntingtin Exacerbates Age-Related Disruption of Nuclear Integrity and Nucleocytoplasmic Transport

(2017) Fatima Gasset-Rosa et al.   NEURON

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

(2017) Chantal Sellier et al.   NEURON

RAN Translation Regulated by Muscleblind Proteins in Myotonic Dystrophy Type 2

(2017) Tao Zu et al.   NEURON

Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31

(2017) Taro Ishiguro et al.   NEURON

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

Strategic disruption of nuclear pores structure, integrity and barrier for nuclear apoptosis

(2017) Victor Shahin   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Structural Characteristics of Simple RNA Repeats Associated with Disease and their Deleterious Protein Interactions

(2017) Adam Ciesiolka et al.   Frontiers in Cellular Neuroscience

PTENβ is an alternatively translated isoform of PTEN that regulates rDNA transcription

(2017) Hui Liang et al.   Nature Communications

RAN translation at C9orf72-associated repeat expansions is selectively enhanced by the integrated stress response

(2017) Katelyn M. Green et al.   Nature Communications

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

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

Protein misfolding in neurodegenerative diseases: implications and strategies

(2017) Patrick Sweeney et al.   Translational Neurodegeneration

The pathogenic exon 1 HTT protein is produced by incomplete splicing in Huntington’s disease patients

(2017) Andreas Neueder et al.   Scientific Reports

Repeat-associated non-AUG translation from antisense CCG repeats in fragile X tremor/ataxia syndrome

(2016) Amy Krans et al.   ANNALS OF NEUROLOGY

Nuclear speckles are detention centers for transcripts containing expanded CAG repeats

(2016) Martyna O. Urbanek et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

RAN translation—What makes it run?

(2016) Katelyn M. Green et al.   BRAIN RESEARCH

The integrated stress response

(2016) Karolina Pakos‐Zebrucka et al.   EMBO REPORTS

Upstream Open Reading Frames Differentially Regulate Gene-specific Translation in the Integrated Stress Response

(2016) Sara K. Young et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

CGG Repeat-Associated Non-AUG Translation Utilizes a Cap-Dependent Scanning Mechanism of Initiation to Produce Toxic Proteins

(2016) Michael G. Kearse et al.   MOLECULAR CELL

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

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

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

(2016) Steven Boeynaems et al.   Scientific Reports

In Vitro Expansion of CAG, CAA, and Mixed CAG/CAA Repeats

(2015) Grzegorz Figura et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

(2015) Saskia Polling et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

RNA Structures as Mediators of Neurological Diseases and as Drug Targets

(2015) Viachaslau Bernat et al.   NEURON

RAN Translation in Huntington Disease

(2015) Monica Bañez-Coronel et al.   NEURON

N-terminal modifications of cellular proteins: The enzymes involved, their substrate specificities and biological effects

(2015) Sylvia Varland et al.   PROTEOMICS

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation

(2015) Saskia Polling et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Repeat Associated Non-AUG Translation (RAN Translation) Dependent on Sequence Downstream of the ATXN2 CAG Repeat

(2015) Daniel R. Scoles et al.   PLoS One

A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript

(2014) Biswarathan Ramani et al.   HUMAN MOLECULAR GENETICS

Association of polyalanine and polyglutamine coiled coils mediates expansion disease-related protein aggregation and dysfunction

(2014) Ilaria Pelassa et al.   HUMAN MOLECULAR GENETICS

Misfolded Polyglutamine, Polyalanine, and Superoxide Dismutase 1 Aggregate via Distinct Pathways in the Cell

(2014) Saskia Polling et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

RAN translation and frameshifting as translational challenges at simple repeats of human neurodegenerative disorders

(2014) Marzena Wojciechowska et al.   NUCLEIC ACIDS RESEARCH

RNA-mediated pathogenic mechanisms in polyglutamine diseases and amyotrophic lateral sclerosis

(2014) Ho Yin Edwin Chan   Frontiers in Cellular Neuroscience

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

(2013) Peter E.A. Ash et al.   NEURON

CGG Repeat-Associated Translation Mediates Neurodegeneration in Fragile X Tremor Ataxia Syndrome

(2013) Peter K. Todd 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

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

(2013) K. Sathasivam 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

Mechanisms of RNA-induced toxicity in CAG repeat disorders

(2013) R Nalavade et al.   Cell Death & Disease

Expanded ATXN3 frameshifting events are toxic in Drosophila and mammalian neuron models

(2012) Shawn J. Stochmanski et al.   HUMAN MOLECULAR GENETICS

Diffprot — software for non-parametric statistical analysis of differential proteomics data

(2012) Agata Malinowska et al.   Journal of Proteomics

CAG expansion induces nucleolar stress in polyglutamine diseases

(2012) H. Tsoi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Global mapping of translation initiation sites in mammalian cells at single-nucleotide resolution

(2012) S. Lee et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Protein alpha-N-acetylation studied by N-terminomics

(2011) Petra Van Damme et al.   FEBS Journal

CAG repeats mimic CUG repeats in the misregulation of alternative splicing

(2011) Agnieszka Mykowska et al.   NUCLEIC ACIDS RESEARCH

Mouse Ataxin-3 Functional Knock-Out Model

(2010) Pawel M. Switonski et al.   NEUROMOLECULAR MEDICINE

Splice Isoforms of the Polyglutamine Disease Protein Ataxin-3 Exhibit Similar Enzymatic yet Different Aggregation Properties

(2010) Ginny Marie Harris 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

Biochemical analysis of oligomerization of expanded polyalanine repeat proteins

(2009) Jun Nojima et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Increased transcript diversity: novel splicing variants of Machado–Joseph Disease gene (ATXN3)

(2009) Conceição Bettencourt et al.   NEUROGENETICS

Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans

(2009) T. Arnesen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Coding-Sequence Determinants of Gene Expression in Escherichia coli

(2009) G. Kudla et al.   SCIENCE

Focal distortion of the nuclear envelope by huntingtin aggregates revealed by lamin immunostaining

(2008) J. Paul Chapple et al.   NEUROSCIENCE LETTERS