RNA toxicity in polyglutamine disorders: concepts, models, and progress of research

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

Triplet repeats in transcripts: structural insights into RNA toxicity

(2012) Paulina Galka-Marciniak et al.   BIOLOGICAL CHEMISTRY

RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity

(2012) Gloria V. Echeverria et al.   BRAIN RESEARCH

Huntingtin protein interactions altered by polyglutamine expansion as determined by quantitative proteomic analysis

(2012) Tamara Ratovitski et al.   CELL CYCLE

Induced Pluripotent Stem Cells from Patients with Huntington's Disease Show CAG-Repeat-Expansion-Associated Phenotypes

(2012) The HD iPSC Consortium   Cell Stem Cell

Polyglutamine neurodegeneration: expanded glutamines enhance native functions

(2012) Harry T Orr   CURRENT OPINION IN GENETICS & DEVELOPMENT

Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice

(2012) M. A. Pouladi et al.   HUMAN MOLECULAR GENETICS

Mouse Models of Polyglutamine Diseases: Review and Data Table. Part I

(2012) Maciej Figiel et al.   MOLECULAR NEUROBIOLOGY

TALENs: a widely applicable technology for targeted genome editing

(2012) J. Keith Joung et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ubiquitous Expression of CUG or CAG Trinucleotide Repeat RNA Causes Common Morphological Defects in a Drosophila Model of RNA-Mediated Pathology

(2012) Kynan T. Lawlor et al.   PLoS One

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

SCA1—Phosphorylation, a regulator of Ataxin-1 function and pathogenesis

(2012) Harry T. Orr   PROGRESS IN NEUROBIOLOGY

Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA)

(2012) Masahisa Katsuno et al.   PROGRESS IN NEUROBIOLOGY

A Pathogenic Mechanism in Huntington's Disease Involves Small CAG-Repeated RNAs with Neurotoxic Activity

(2012) Mónica Bañez-Coronel et al.   PLoS Genetics

Amyloid-like Aggregates Sequester Numerous Metastable Proteins with Essential Cellular Functions

(2011) Heidi Olzscha et al.   CELL

Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila

(2011) Shin-Yi Shieh et al.   HUMAN MOLECULAR GENETICS

Activation of the innate immune response and interferon signalling in myotonic dystrophy type 1 and type 2 cataracts

(2011) Jeremy D. Rhodes et al.   HUMAN MOLECULAR GENETICS

Perturbation of U2AF65/NXF1-mediated RNA nuclear export enhances RNA toxicity in polyQ diseases

(2011) Ho Tsoi et al.   HUMAN MOLECULAR GENETICS

Double-stranded RNA is pathogenic in Drosophila models of expanded repeat neurodegenerative diseases

(2011) Kynan T. Lawlor et al.   HUMAN MOLECULAR GENETICS

Cellular toxicity of expanded RNA repeats: focus on RNA foci

(2011) Marzena Wojciechowska et al.   HUMAN MOLECULAR GENETICS

A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression

(2011) Daniel W. Chung et al.   HUMAN MOLECULAR GENETICS

Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease

(2011) Guy Keryer et al.   JOURNAL OF CLINICAL INVESTIGATION

Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy

(2011) Frédérique Rau et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats

(2011) François-Xavier Laurent et al.   NUCLEIC ACIDS RESEARCH

Triplet repeat RNA structure and its role as pathogenic agent and therapeutic target

(2011) W. J. Krzyzosiak et al.   NUCLEIC ACIDS RESEARCH

Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference

(2011) Mateusz de Mezer et al.   NUCLEIC ACIDS RESEARCH

CAG repeats mimic CUG repeats in the misregulation of alternative splicing

(2011) Agnieszka Mykowska et al.   NUCLEIC ACIDS RESEARCH

Long Tract of Untranslated CAG Repeats Is Deleterious in Transgenic Mice

(2011) Ren-Jun Hsu et al.   PLoS One

Correlation of Inter-Locus Polyglutamine Toxicity with CAG•CTG Triplet Repeat Expandability and Flanking Genomic DNA GC Content

(2011) Colm E. Nestor et al.   PLoS One

CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders

(2011) Marzena Wojciechowska et al.   RNA Biology

Triplet Repeat–Derived siRNAs Enhance RNA–Mediated Toxicity in a Drosophila Model for Myotonic Dystrophy

(2011) Zhenming Yu et al.   PLoS Genetics

Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans

(2010) Li-Chun Wang et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Structural Diversity of Triplet Repeat RNAs

(2010) Krzysztof Sobczak et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Huntington's disease: from molecular pathogenesis to clinical treatment

(2010) Christopher A Ross et al.   LANCET NEUROLOGY

Native Functions of the Androgen Receptor Are Essential to Pathogenesis in a Drosophila Model of Spinobulbar Muscular Atrophy

(2010) Natalia B. Nedelsky et al.   NEURON

PolyQ Disease: Too Many Qs, Too Much Function?

(2010) Ian H. Kratter et al.   NEURON

Atomic resolution structure of CAG RNA repeats: structural insights and implications for the trinucleotide repeat expansion diseases

(2010) Agnieszka Kiliszek et al.   NUCLEIC ACIDS RESEARCH

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

Roles of trinucleotide-repeat RNA in neurological disease and degeneration

(2010) Ling-Bo Li et al.   TRENDS IN NEUROSCIENCES

Polyglutamine Diseases: Where does Toxicity Come from? What is Toxicity? Where are We Going?

(2010) T. Takahashi et al.   Journal of Molecular Cell Biology

Post-translational modifications of expanded polyglutamine proteins: impact on neurotoxicity

(2009) M. Pennuto et al.   HUMAN MOLECULAR GENETICS

Structural insights into CUG repeats containing the ‘stretched U–U wobble’: implications for myotonic dystrophy

(2009) Agnieszka Kiliszek et al.   NUCLEIC ACIDS RESEARCH

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

(2009) Randy S. Daughters et al.   PLoS Genetics

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

(2008) Janghoo Lim et al.   NATURE

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

(2008) Ling-Bo Li et al.   NATURE