Expanded CUG repeats in DMPK transcripts adopt diverse hairpin conformations without influencing the structure of the flanking sequences

Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism

(2018) Stéphanie Tomé et al.   HUMAN MUTATION

MBNL splicing activity depends on RNA binding site structural context

(2018) Katarzyna Taylor et al.   NUCLEIC ACIDS RESEARCH

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

(2018) Ricardos Tabet et al.   Nature Communications

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy

(2018) Marzena Wojciechowska et al.   Scientific Reports

Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase

(2017) Samuel T Carrell et al.   NUCLEIC ACIDS RESEARCH

Structures of RNA repeats associated with neurological diseases

(2017) Leszek Błaszczyk et al.   Wiley Interdisciplinary Reviews-RNA

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

(2017) Dominic Jauvin et al.   Molecular Therapy-Nucleic Acids

Genome-Wide Analysis of RNA Secondary Structure

(2016) Philip C. Bevilacqua et al.   Annual Review of Genetics

A low absolute number of expanded transcripts is involved in myotonic dystrophy type 1 manifestation in muscle

(2016) Anke E. E. G. Gudde et al.   HUMAN MOLECULAR GENETICS

Predicting RNA secondary structures from sequence and probing data

(2016) Ronny Lorenz et al.   METHODS

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

RNA G-quadruplexes: emerging mechanisms in disease

(2016) Anne Cammas et al.   NUCLEIC ACIDS RESEARCH

Unravelling the myotonic dystrophy type 1 clinical spectrum: A systematic registry-based study with implications for disease classification

(2016) M. De Antonio et al.   REVUE NEUROLOGIQUE

G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome

(2015) Roberto Simone et al.   FEBS LETTERS

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

Molecular mechanisms in DM1 — a focus on foci

(2015) Olof Joakim Pettersson et al.   NUCLEIC ACIDS RESEARCH

Structure and Dynamics of the HIV-1 Frameshift Element RNA

(2014) Justin T. Low et al.   BIOCHEMISTRY

Discovery of a Biomarker and Lead Small Molecules to Target r(GGGGCC)-Associated Defects in c9FTD/ALS

(2014) Zhaoming Su et al.   NEURON

Modifications to toxic CUG RNAs induce structural stability, rescue mis-splicing in a myotonic dystrophy cell model and reduce toxicity in a myotonic dystrophy zebrafish model

(2014) Elaine deLorimier et al.   NUCLEIC ACIDS RESEARCH

Role of Context in RNA Structure: Flanking Sequences Reconfigure CAG Motif Folding in Huntingtin Exon 1 Transcripts

(2013) Steven Busan et al.   BIOCHEMISTRY

TMPyP4 Porphyrin Distorts RNA G-quadruplex Structures of the Disease-associated r(GGGGCC)nRepeat of theC9orf72Gene and Blocks Interaction of RNA-binding Proteins

(2013) Bita Zamiri et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

In vivo genome-wide profiling of RNA secondary structure reveals novel regulatory features

(2013) Yiliang Ding et al.   NATURE

Genome-wide probing of RNA structure reveals active unfolding of mRNA structures in vivo

(2013) Silvi Rouskin et al.   NATURE

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

(2013) Peter K. Todd et al.   NEURON

Design and Analysis of Effects of Triplet Repeat Oligonucleotides in Cell Models for Myotonic Dystrophy

(2013) Anchel González-Barriga et al.   Molecular Therapy-Nucleic Acids

The RNA-binding protein Staufen1 is increased in DM1 skeletal muscle and promotes alternative pre-mRNA splicing

(2012) Aymeric Ravel-Chapuis et al.   JOURNAL OF CELL BIOLOGY

The myotonic dystrophies: molecular, clinical, and therapeutic challenges

(2012) Bjarne Udd et al.   LANCET NEUROLOGY

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

RNA SHAPE analysis in living cells

(2012) Robert C Spitale et al.   Nature Chemical Biology

RNase H-mediated degradation of toxic RNA in myotonic dystrophy type 1

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

QuShape: Rapid, accurate, and best-practices quantification of nucleic acid probing information, resolved by capillary electrophoresis

(2012) F. Karabiber et al.   RNA

The four Zn fingers of MBNL1 provide a flexible platform for recognition of its RNA binding elements

(2011) Danielle Cass et al.   BMC MOLECULAR BIOLOGY

Expanded CUG Repeats Dysregulate RNA Splicing by Altering the Stoichiometry of the Muscleblind 1 Complex

(2011) Sharan Paul et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

RNAstructure: software for RNA secondary structure prediction and analysis

(2010) Jessica S Reuter et al.   BMC BIOINFORMATICS

Advances in RNA structure analysis by chemical probing

(2010) Kevin M Weeks   CURRENT OPINION IN STRUCTURAL BIOLOGY

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

(2010) Claudia Braida et al.   HUMAN MOLECULAR GENETICS

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

Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene

(2009) Zuzana Musova et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

VARNA: Interactive drawing and editing of the RNA secondary structure

(2009) Kévin Darty et al.   BIOINFORMATICS

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

(2009) Jiaxin Hu et al.   NATURE BIOTECHNOLOGY

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

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

(2009) T. M. Wheeler et al.   SCIENCE

OligoWalk: an online siRNA design tool utilizing hybridization thermodynamics

(2008) Z. J. Lu et al.   NUCLEIC ACIDS RESEARCH

Accurate SHAPE-directed RNA structure determination

(2008) K. E. Deigan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA