List of works by Masayuki Nakamori

A CTG repeat-selective chemical screen identifies microtubule inhibitors as selective modulators of toxic CUG RNA levels

scientific article published on 30 September 2019

A Kir3.4 mutation causes Andersen-Tawil syndrome by an inhibitory effect on Kir2.1

scientific article

A dimeric 2,9-diamino-1,10-phenanthroline derivative improves alternative splicing in myotonic dystrophy type 1 cell and mouse models

article

A hidden ancestral legacy trumped

journal article; published in Nature on 2011-10-05

Aberrant Myokine Signaling in Congenital Myotonic Dystrophy

scientific article

Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1.

scientific article

Actinomycin D Specifically Reduces Expanded CUG Repeat RNA in Myotonic Dystrophy Models.

scientific article

Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy

scientific article published on 01 August 2007

Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.

scientific article published on 22 June 2005

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

scientific article

Biological Efficacy and Toxicity of Diamidines in Myotonic Dystrophy Type 1 Models.

scientific article

Detection of slipped-DNAs at the trinucleotide repeats of the myotonic dystrophy type I disease locus in patient tissues.

scientific article

Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy.

scientific article published on 11 July 2017

Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle.

scientific article published on 28 July 2007

Episodic ataxia type 2 manifests as epileptiform electroencephalographic activity with no epileptic attacks in two family members

scientific article published on 30 March 2016

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues

scientific article published on January 1, 2011

Furamidine Rescues Myotonic Dystrophy Type I Associated Mis-Splicing through Multiple Mechanisms

scientific article published on 27 August 2018

Human Genomic Safe Harbors and the Suicide Gene-Based Safeguard System for iPSC-Based Cell Therapy

scientific article published on 19 March 2019

Identification of restriction endonucleases sensitive to 5-cytosine methylation at non-CpG sites, including expanded (CAG)n/(CTG)n repeats.

scientific article published in April 2011

Isaacs' syndrome successfully treated by immunoadsorption plasmapheresis

scientific article published on 01 October 2000

Large expansion of CTG•CAG repeats is exacerbated by MutSβ in human cells.

scientific article published on 5 June 2015

Lomofungin and dilomofungin: inhibitors of MBNL1-CUG RNA binding with distinct cellular effects

scientific article

Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1.

scientific article published in February 2018

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.

scientific article

Myotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability.

scientific article

Nucleic Acid-Based Therapeutics for Parkinson's Disease

scientific article published on 01 April 2019

Oral administration of erythromycin decreases RNA toxicity in myotonic dystrophy

scientific article

Pentamidine reverses the splicing defects associated with myotonic dystrophy.

scholarly article

Reducing levels of toxic RNA with small molecules

scientific article

Replacement of the myotonic dystrophy type 1 CTG repeat with 'non-CTG repeat' insertions in specific tissues.

scientific article

Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.

scientific article published on 11 April 2016

Targeting nuclear RNA for in vivo correction of myotonic dystrophy

scientific article

The myotonic dystrophy health index: Japanese adaption and validity testing

scientific article published on 08 February 2019

[Therapeutic development in myotonic dystrophy].

scientific article

deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1

scientific article published on 12 December 2019