Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges

Mutant Human Embryonic Stem Cells Reveal Neurite and Synapse Formation Defects in Type 1 Myotonic Dystrophy

(2011) Antoine Marteyn et al.   Cell Stem Cell

RNA steady-state defects in myotonic dystrophy are linked to nuclear exclusion of SHARP

(2011) Warunee Dansithong et al.   EMBO REPORTS

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

(2011) Charlotte Fugier et al.   NATURE MEDICINE

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

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

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

(2010) Chantal Sellier et al.   EMBO JOURNAL

Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells

(2010) Claudia Huichalaf et al.   FASEB JOURNAL

Partners in crime: bidirectional transcription in unstable microsatellite disease

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

Bidirectional transcription stimulates expansion and contraction of expanded (CTG)•(CAG) repeats

(2010) Masayuki Nakamori et al.   HUMAN MOLECULAR GENETICS

Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function

(2010) S. A. M. Mulders et al.   HUMAN MOLECULAR GENETICS

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

Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients

(2010) Stefano Gambardella et al.   Journal of Translational Medicine

Repeat expansion disease: progress and puzzles in disease pathogenesis

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

Retrospective study on PET–SPECT imaging in a large cohort of myotonic dystrophy type 1 patients

(2010) Vincenzo Romeo et al.   NEUROLOGICAL SCIENCES

Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2

(2010) Y. G. Weber et al.   NEUROLOGY

Progressive skeletal muscle weakness in transgenic mice expressing CTG expansions is associated with the activation of the ubiquitin–proteasome pathway

(2010) Alban Vignaud et al.   NEUROMUSCULAR DISORDERS

Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1

(2010) Riccardo Perbellini et al.   NEUROMUSCULAR DISORDERS

White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: A diffusion tensor imaging study

(2010) Jeffrey R. Wozniak et al.   NEUROMUSCULAR DISORDERS

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

microRNAs and cholesterol metabolism

(2010) Kathryn J. Moore et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

(2010) Misti C. White et al.   PLoS Genetics

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

Expression of RNA CCUG Repeats Dysregulates Translation and Degradation of Proteins in Myotonic Dystrophy 2 Patients

(2009) Elizabeth Salisbury et al.   AMERICAN JOURNAL OF PATHOLOGY

Dystrophia myotonia: why focus on foci?

(2009) R P Junghans   EUROPEAN JOURNAL OF HUMAN GENETICS

Ectopic expression of CGG containing mRNA is neurotoxic in mammals

(2009) V. Hashem et al.   HUMAN MOLECULAR GENETICS

Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy

(2009) Robert J. Osborne et al.   HUMAN MOLECULAR GENETICS

MicroRNAs and cardiac pathology

(2009) Michael V. G. Latronico et al.   Nature Reviews Cardiology

Regulatory roles of natural antisense transcripts

(2009) Mohammad Ali Faghihi et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Absence of a differentiation defect in muscle satellite cells from DM2 patients

(2009) Richard Pelletier et al.   NEUROBIOLOGY OF DISEASE

Instability and chromatin structure of expanded trinucleotide repeats

(2009) Vincent Dion et al.   TRENDS IN GENETICS

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

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

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome

(2008) Judith R. Brouwer et al.   JOURNAL OF NEUROCHEMISTRY

MBNL1 associates with YB-1 in cytoplasmic stress granules

(2008) Hayato Onishi et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

(2008) Ling-Bo Li et al.   NATURE

miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis

(2008) Yoontae Lee et al.   NATURE NEUROSCIENCE

MicroRNAs flex their muscles

(2008) Eva van Rooij et al.   TRENDS IN GENETICS

A microRNA-based gene dysregulation pathway in Huntington's disease

(2007) Rory Johnson et al.   NEUROBIOLOGY OF DISEASE