Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

(2013) Tania F. Gendron et al.   ACTA NEUROPATHOLOGICA

Compound loss of muscleblind-like function in myotonic dystrophy

(2013) Kuang-Yung Lee et al.   EMBO Molecular Medicine

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

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

(2013) K. Mori et al.   SCIENCE

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

(2012) Eric T. Wang et al.   CELL

Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise

(2012) Christopher M. Chamberlain et al.   HUMAN MOLECULAR GENETICS

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy

(2012) Konstantinos Charizanis et al.   NEURON

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms

(2011) Hélène Tran et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autoregulated Splicing ofmuscleblind-like 1 (MBNL1) Pre-mRNA

(2011) Devika P. Gates et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Stochastic and reversible aggregation of mRNA with expanded CUG-triplet repeats

(2011) E. Querido et al.   JOURNAL OF CELL SCIENCE

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

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

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

Nuclear import by karyopherin-βs: Recognition and inhibition

(2010) Yuh Min Chook et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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

A conserved motif controls nuclear localization of Drosophila Muscleblind

(2010) Juan M. Fernandez-Costa et al.   MOLECULES AND CELLS

Repeat expansion disease: progress and puzzles in disease pathogenesis

(2010) Albert R. La Spada et al.   NATURE REVIEWS GENETICS

Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations

(2010) Yoshihiro Kino 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

Conserved developmental alternative splicing of muscleblind-like (MBNL) transcripts regulates MBNL localization and activity

(2010) Fulvia Terenzi et al.   RNA Biology

The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies

(2009) Peter O. Bauer et al.   JOURNAL OF NEUROCHEMISTRY

MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1

(2009) Yoshihiro Kino et al.   NUCLEIC ACIDS RESEARCH

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

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

Design of Peptide Inhibitors for the Importin α/β Nuclear Import Pathway by Activity-Based Profiling

(2008) Shunichi Kosugi et al.   CHEMISTRY & BIOLOGY

Muscleblind-like 2 (Mbnl2) -deficient mice as a model for myotonic dystrophy

(2008) Minqi Hao et al.   DEVELOPMENTAL DYNAMICS

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

(2008) Ling-Bo Li et al.   NATURE

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