AON-induced splice-switching and DMPK pre-mRNA degradation as potential therapeutic approaches for Myotonic Dystrophy type 1

Intron retention induced by microsatellite expansions as a disease biomarker

(2018) Łukasz J. Sznajder et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MBNL expression in autoregulatory feedback loops

(2017) Patryk Konieczny et al.   RNA Biology

Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues

(2017) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Splice-Switching Therapy for Spinal Muscular Atrophy

(2017) et al.   Genes

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

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

Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine

(2016) Maximilian W. Popp et al.   CELL

Dmpkgene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice

(2016) Samuel T. Carrell et al.   HUMAN MOLECULAR GENETICS

Autoregulation of MBNL1 function by exon 1 exclusion from MBNL1 transcript

(2016) Patryk Konieczny et al.   NUCLEIC ACIDS RESEARCH

Antagonistic regulation of mRNA expression and splicing by CELF and MBNL proteins

(2015) Eric T. Wang et al.   GENOME RESEARCH

Short antisense-locked nucleic acids (all-LNAs) correct alternative splicing abnormalities in myotonic dystrophy

(2015) Agnieszka Wojtkowiak-Szlachcic et al.   NUCLEIC ACIDS RESEARCH

Cooperation meets competition in microRNA-mediated DMPK transcript regulation

(2015) Edyta Koscianska et al.   NUCLEIC ACIDS RESEARCH

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

(2014) Yoshihiro Kino et al.   HUMAN MOLECULAR GENETICS

The Dharma of Nonsense-Mediated mRNA Decay in Mammalian Cells

(2014) Maximilian Wei-Lin Popp et al.   MOLECULES AND CELLS

Nonsense-mediated decay as a terminating mechanism for antisense oligonucleotides

(2014) Amanda J. Ward et al.   NUCLEIC ACIDS RESEARCH

Splicing biomarkers of disease severity in myotonic dystrophy

(2013) Masayuki Nakamori et al.   ANNALS OF NEUROLOGY

Induction and reversal of myotonic dystrophy type 1 pre-mRNA splicing defects by small molecules

(2013) Jessica L. Childs-Disney et al.   Nature Communications

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

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

(2012) Thurman M. Wheeler et al.   NATURE

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

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

Stabilization of Expanded (CTG)•(CAG) Repeats by Antisense Oligonucleotides

(2011) Masayuki Nakamori et al.   MOLECULAR THERAPY

Mechanism of escape from nonsense-mediated mRNA decay of human  -globin transcripts with nonsense mutations in the first exon

(2011) G. Neu-Yilik et al.   RNA

Mutant (CCTG)n Expansion Causes Abnormal Expression of Zinc Finger Protein 9 (ZNF9) in Myotonic Dystrophy Type 2

(2010) Olayinka Raheem et al.   AMERICAN JOURNAL OF PATHOLOGY

A conserved motif controls nuclear localization of Drosophila Muscleblind

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

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

(2010) Fulvia Terenzi et al.   RNA Biology

DMDexon 1 truncating point mutations: Amelioration of phenotype by alternative translation initiation in exon 6

(2009) Olga L. Gurvich et al.   HUMAN MUTATION

Reduction of the Rate of Protein Translation in Patients with Myotonic Dystrophy 2

(2009) C. Huichalaf et al.   JOURNAL OF NEUROSCIENCE

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

(2009) Richard Pelletier et al.   NEUROBIOLOGY OF DISEASE

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

MBNL1 associates with YB-1 in cytoplasmic stress granules

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

Dual localization of the RNA binding protein CUGBP-1 to stress granule and perinucleolar compartment

(2007) Ken Fujimura et al.   EXPERIMENTAL CELL RESEARCH