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

Small Molecule Recognition and Tools to Study Modulation of r(CGG)exp in Fragile X-Associated Tremor Ataxia Syndrome

(2016) Wang-Yong Yang et al.   ACS Chemical Biology

Pathogenic C9ORF72 Antisense Repeat RNA Forms a Double Helix with Tandem C:C Mismatches

(2016) David W. Dodd et al.   BIOCHEMISTRY

Programmable RNA Tracking in Live Cells with CRISPR/Cas9

(2016) David A. Nelles et al.   CELL

Structure of Human DROSHA

(2016) S. Chul Kwon et al.   CELL

RNA Duplex Map in Living Cells Reveals Higher-Order Transcriptome Structure

(2016) Zhipeng Lu et al.   CELL

In Vivo Mapping of Eukaryotic RNA Interactomes Reveals Principles of Higher-Order Organization and Regulation

(2016) Jong Ghut Ashley Aw et al.   MOLECULAR CELL

Global Mapping of Human RNA-RNA Interactions

(2016) Eesha Sharma et al.   MOLECULAR CELL

Robust transcriptome-wide discovery of RNA-binding protein binding sites with enhanced CLIP (eCLIP)

(2016) Eric L Van Nostrand et al.   NATURE METHODS

Structural characterization of a dimer of RNA duplexes composed of 8-bromoguanosine modified CGG trinucleotide repeats: a novel architecture of RNA quadruplexes

(2016) Dorota Gudanis et al.   NUCLEIC ACIDS RESEARCH

Identifying proteins that bind to specific RNAs - focus on simple repeat expansion diseases

(2016) Magdalena Jazurek et al.   NUCLEIC ACIDS RESEARCH

Mechanistic determinants of MBNL activity

(2016) Łukasz J. Sznajder et al.   NUCLEIC ACIDS RESEARCH

RNA G-quadruplexes are globally unfolded in eukaryotic cells and depleted in bacteria

(2016) J. U. Guo et al.   SCIENCE

C2c2 is a single-component programmable RNA-guided RNA-targeting CRISPR effector

(2016) Omar O. Abudayyeh et al.   SCIENCE

Enhanced CLIP Uncovers IMP Protein-RNA Targets in Human Pluripotent Stem Cells Important for Cell Adhesion and Survival

(2016) Anne E. Conway et al.   Cell Reports

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

(2016) Erin G Conlon et al.   eLife

Antisense RNA foci in the motor neurons of C9ORF72-ALS patients are associated with TDP-43 proteinopathy

(2015) Johnathan Cooper-Knock et al.   ACTA NEUROPATHOLOGICA

Crystallographic and Computational Analyses of AUUCU Repeating RNA That Causes Spinocerebellar Ataxia Type 10 (SCA10)

(2015) HaJeung Park et al.   BIOCHEMISTRY

Functional Anatomy of the Human Microprocessor

(2015) Tuan Anh Nguyen et al.   CELL

Sequence Features of Drosha and Dicer Cleavage Sites Affect the Complexity of IsomiRs

(2015) Julia Starega-Roslan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Nuclear accumulation of mRNAs underlies G4C2-repeat-induced translational repression in a cellular model of C9orf72 ALS

(2015) S. Rossi et al.   JOURNAL OF CELL SCIENCE

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

(2015) Ke Zhang et al.   NATURE

Structural Insights Reveal the Dynamics of the Repeating r(CAG) Transcript Found in Huntington’s Disease (HD) and Spinocerebellar Ataxias (SCAs)

(2015) Arpita Tawani et al.   PLoS One

Quantitative proteomics using SILAC: Principles, applications, and developments

(2015) Xiulan Chen et al.   PROTEOMICS

Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65

(2015) Xin Sun et al.   Scientific Reports

Targeting the r(CGG) Repeats That Cause FXTAS with Modularly Assembled Small Molecules and Oligonucleotides

(2014) Tuan Tran et al.   ACS Chemical Biology

DNA and RNA Quadruplex-Binding Proteins

(2014) Václav Brázda et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

RNA Bind-n-Seq: Quantitative Assessment of the Sequence and Structural Binding Specificity of RNA Binding Proteins

(2014) Nicole Lambert et al.   MOLECULAR CELL

C9orf72 nucleotide repeat structures initiate molecular cascades of disease

(2014) Aaron R. Haeusler et al.   NATURE

Programmable RNA recognition and cleavage by CRISPR/Cas9

(2014) Mitchell R. O’Connell et al.   NATURE

Photo-cross-linking and high-resolution mass spectrometry for assignment of RNA-binding sites in RNA-binding proteins

(2014) Katharina Kramer et al.   NATURE METHODS

Myotonic Dystrophy

(2014) Charles A. Thornton   NEUROLOGIC CLINICS

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

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

(2014) Marzena Wojciechowska et al.   NUCLEIC ACIDS RESEARCH

MBNL proteins and their target RNAs, interaction and splicing regulation

(2014) Patryk Konieczny et al.   NUCLEIC ACIDS RESEARCH

Distinctive structural motifs of RNA G-quadruplexes composed of AGG, CGG and UGG trinucleotide repeats

(2014) Magdalena Malgowska et al.   NUCLEIC ACIDS RESEARCH

Development of an AP-FRET Based Analysis for Characterizing RNA-Protein Interactions in Myotonic Dystrophy (DM1)

(2014) Shagufta Rehman et al.   PLoS One

Fragile X-associated tremor/ataxia syndrome (FXTAS): pathology and mechanisms

(2013) Paul Hagerman   ACTA NEUROPATHOLOGICA

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

(2013) Sandra Almeida et al.   ACTA NEUROPATHOLOGICA

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

(2013) Steven Busan et al.   BIOCHEMISTRY

Quantitative proteomic analysis reveals concurrent RNA-protein interactions and identifies new RNA-binding proteins in Saccharomyces cerevisiae

(2013) D. M. Klass et al.   GENOME RESEARCH

The Disease-associated r(GGGGCC)nRepeat from theC9orf72Gene Forms Tract Length-dependent Uni- and Multimolecular RNA G-quadruplex Structures

(2013) Kaalak Reddy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

A Dynamic Structural Model of Expanded RNA CAG Repeats: A Refined X-ray Structure and Computational Investigations Using Molecular Dynamics and Umbrella Sampling Simulations

(2013) Ilyas Yildirim et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

(2013) Randi Hagerman et al.   LANCET NEUROLOGY

iCLIP: Protein–RNA interactions at nucleotide resolution

(2013) Ina Huppertz et al.   METHODS

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

Structural insights into the targeting of mRNA GU-rich elements by the three RRMs of CELF1

(2013) J. M. Edwards et al.   NUCLEIC ACIDS RESEARCH

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

(2013) Chantal Sellier et al.   Cell Reports

Utilizing the GAAA Tetraloop/Receptor To Facilitate Crystal Packing and Determination of the Structure of a CUG RNA Helix

(2012) Leslie A. Coonrod et al.   BIOCHEMISTRY

Transcriptome-wide Regulation of Pre-mRNA Splicing and mRNA Localization by Muscleblind Proteins

(2012) Eric T. Wang et al.   CELL

RNA recognition by double-stranded RNA binding domains: a matter of shape and sequence

(2012) Grégoire Masliah et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

(2012) Bradley N Smith et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural dynamics of double-helical RNAs composed of CUG/CUG- and CUG/CGG-repeats

(2012) Jevgenia Tamjar et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

Investigation of protein–RNA interactions by mass spectrometry—Techniques and applications

(2012) Carla Schmidt et al.   Journal of Proteomics

Combinatorial Mutagenesis of MBNL1 Zinc Fingers Elucidates Distinct Classes of Regulatory Events

(2012) J. Purcell et al.   MOLECULAR AND CELLULAR BIOLOGY

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

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

(2012) Pietro Fratta et al.   Scientific Reports

Myotonic Dystrophy Type 1 RNA Crystal Structures Reveal Heterogeneous 1 × 1 Nucleotide UU Internal Loop Conformations

(2011) Amit Kumar et al.   BIOCHEMISTRY

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

MBNL1-RNA Recognition: Contributions of MBNL1 Sequence and RNA Conformation

(2011) Yuan Fu et al.   CHEMBIOCHEM

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

(2011) Ho Tsoi et al.   HUMAN MOLECULAR GENETICS

Quantitative Profiling ofIn Vivo-assembled RNA-Protein Complexes Using a Novel Integrated Proteomic Approach

(2011) Becky Pinjou Tsai et al.   MOLECULAR & CELLULAR PROTEOMICS

Mapping in vivo protein-RNA interactions at single-nucleotide resolution from HITS-CLIP data

(2011) Chaolin Zhang et al.   NATURE BIOTECHNOLOGY

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

Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome

(2011) Agnieszka Kiliszek 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

Identification of RNA-protein interaction networks using PAR-CLIP

(2011) Manuel Ascano et al.   Wiley Interdisciplinary Reviews-RNA

The C-Terminus of Nucleolin Promotes the Formation of the c-MYCG-Quadruplex and Inhibits c-MYCPromoter Activity

(2010) Verónica González et al.   BIOCHEMISTRY

Transcriptome-wide Identification of RNA-Binding Protein and MicroRNA Target Sites by PAR-CLIP

(2010) Markus Hafner et al.   CELL

Partners in crime: bidirectional transcription in unstable microsatellite disease

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

Structural Diversity of Triplet Repeat RNAs

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

iCLIP reveals the function of hnRNP particles in splicing at individual nucleotide resolution

(2010) Julian König 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

MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing

(2010) Emily S. Goers et al.   NUCLEIC ACIDS RESEARCH

Identification of MBNL1 and MBNL3 domains required for splicing activation and repression

(2010) Ioannis Grammatikakis 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

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

(2009) Agnieszka Kiliszek et al.   NUCLEIC ACIDS RESEARCH

Structural basis for the sequence-specific RNA-recognition mechanism of human CUG-BP1 RRM3

(2009) Kengo Tsuda 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

Bidirectional expression of the SCA8 expansion mutation: One mutation, two genes

(2008) Yoshio Ikeda et al.   CEREBELLUM

Mechanisms of RNA-mediated Disease

(2008) Jason R. O'Rourke et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2008) Donny D. Licatalosi 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