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

Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy

(2011) Natsumi Ohsawa et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Allele-selective inhibition of ataxin-3 (ATX3) expression by antisense oligomers and duplex RNAs

(2011) Jiaxin Hu et al.   BIOLOGICAL CHEMISTRY

RNAi medicine for the brain: progresses and challenges

(2011) R. L. Boudreau 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

Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy

(2011) Charlotte Fugier et al.   NATURE MEDICINE

An Antisense CAG Repeat Transcript at JPH3 Locus Mediates Expanded Polyglutamine Protein Toxicity in Huntington's Disease-like 2 Mice

(2011) Brian Wilburn et al.   NEURON

Inhibition of mutant huntingtin expression by RNA duplex targeting expanded CAG repeats

(2011) Agnieszka Fiszer 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

Long Tract of Untranslated CAG Repeats Is Deleterious in Transgenic Mice

(2011) Ren-Jun Hsu et al.   PLoS One

In vivo discovery of a peptide that prevents CUG-RNA hairpin formation and reverses RNA toxicity in myotonic dystrophy models

(2011) A. Garcia-Lopez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CAG repeat RNA as an auxiliary toxic agent in polyglutamine disorders

(2011) Marzena Wojciechowska et al.   RNA Biology

Repeat Associated Non-ATG Translation Initiation: One DNA, Two Transcripts, Seven Reading Frames, Potentially Nine Toxic Entities!

(2011) Christopher E. Pearson   PLoS Genetics

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

(2011) Zhenming Yu et al.   PLoS Genetics

Primary Central Nervous System Lymphoma

(2010) Elizabeth R. Gerstner et al.   ARCHIVES OF NEUROLOGY

Allele-Selective Inhibition of MutantHuntingtinExpression with Antisense Oligonucleotides Targeting the Expanded CAG Repeat

(2010) Keith T. Gagnon et al.   BIOCHEMISTRY

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

The Role of Flexibility in the Rational Design of Modularly Assembled Ligands Targeting the RNAs that Cause the Myotonic Dystrophies

(2010) Matthew D. Disney et al.   CHEMBIOCHEM

Allele-Selective Inhibition of Huntingtin Expression by Switching to an miRNA-like RNAi Mechanism

(2010) Jiaxin Hu et al.   CHEMISTRY & BIOLOGY

Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patients

(2010) Chantal Sellier et al.   EMBO JOURNAL

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

(2010) Tanel Punga et al.   EMBO Molecular Medicine

CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1

(2010) Amanda J. Ward et al.   HUMAN MOLECULAR GENETICS

Partners in crime: bidirectional transcription in unstable microsatellite disease

(2010) R. Batra et al.   HUMAN MOLECULAR GENETICS

Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1

(2010) Misha Koshelev et al.   HUMAN MOLECULAR GENETICS

Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells

(2010) Daman Kumari et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural Diversity of Triplet Repeat RNAs

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

Diverse Endonucleolytic Cleavage Sites in the Mammalian Transcriptome Depend upon MicroRNAs, Drosha, and Additional Nucleases

(2010) Fedor V. Karginov et al.   MOLECULAR CELL

FragSeq: transcriptome-wide RNA structure probing using high-throughput sequencing

(2010) Jason G Underwood et al.   NATURE METHODS

Selective silencing of mutated mRNAs in DM1 by using modified hU7-snRNAs

(2010) Virginie François et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

Trinucleotide repeats in human genome and exome

(2010) Piotr Kozlowski 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

Controlling the Specificity of Modularly Assembled Small Molecules for RNA via Ligand Module Spacing: Targeting the RNAs That Cause Myotonic Muscular Dystrophy

(2009) Melissa M. Lee et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Rational Design of Ligands Targeting Triplet Repeating Transcripts That Cause RNA Dominant Disease: Application to Myotonic Muscular Dystrophy Type 1 and Spinocerebellar Ataxia Type 3

(2009) Alexei Pushechnikov et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Allele-specific silencing of mutant huntingtin and ataxin-3 genes by targeting expanded CAG repeats in mRNAs

(2009) Jiaxin Hu et al.   NATURE BIOTECHNOLOGY

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

(2009) Agnieszka Kiliszek et al.   NUCLEIC ACIDS RESEARCH

The quadruplex r(CGG)n destabilizing cationic porphyrin TMPyP4 cooperates with hnRNPs to increase the translation efficiency of fragile X premutation mRNA

(2009) N. Ofer et al.   NUCLEIC ACIDS RESEARCH

Structural Studies of an RNA Aptamer Containing GGA Repeats Under Ionic Conditions Using Microchip Electrophoresis, Circular Dichroism, and 1D-NMR

(2009) Fumiko Nishikawa et al.   OLIGONUCLEOTIDES

Triplet repeat length bias and variation in the human transcriptome

(2009) M. Molla et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding

(2009) J. F. Arambula et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pentamidine reverses the splicing defects associated with myotonic dystrophy

(2009) M. B. Warf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy

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

The protein factors MBNL1 and U2AF65 bind alternative RNA structures to regulate splicing

(2009) M. B. Warf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reversal of RNA Dominance by Displacement of Protein Sequestered on Triplet Repeat RNA

(2009) T. M. Wheeler et al.   SCIENCE

Therapeutic gene silencing strategies for polyglutamine disorders

(2009) Janine Scholefield et al.   TRENDS IN GENETICS

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

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

Short Tandem Repeats in Human Exons: A Target for Disease Mutations

(2008) Bo Madsen et al.   BMC GENOMICS

Abundance and length of simple repeats in vertebrate genomes are determined by their structural properties

(2008) A. Bacolla et al.   GENOME RESEARCH

Dynamic Combinatorial Selection of Molecules Capable of Inhibiting the (CUG) Repeat RNA−MBNL1 Interaction In Vitro: Discovery of Lead Compounds Targeting Myotonic Dystrophy (DM1)

(2008) Peter C. Gareiss et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

HITS-CLIP yields genome-wide insights into brain alternative RNA processing

(2008) Donny D. Licatalosi et al.   NATURE

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

(2008) Ling-Bo Li et al.   NATURE

Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1

(2008) Marianna Teplova et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

NRED: a database of long noncoding RNA expression

(2008) Marcel E. Dinger et al.   NUCLEIC ACIDS RESEARCH

Genetic and Chemical Modifiers of a CUG Toxicity Model in Drosophila

(2008) Amparo Garcia-Lopez et al.   PLoS One

Simple sequence repeats: genetic modulators of brain function and behavior

(2008) John W. Fondon et al.   TRENDS IN NEUROSCIENCES

Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: Two individual consequences of CUG trinucleotide repeats

(2007) C.M. Dhaenens et al.   EXPERIMENTAL NEUROLOGY