Masayuki Nakamori

Quercetin reduces toxic RNA levels and rescues MBNL-dependent mis-splicing in DM1 and DM2 models.

This study shows that reducing somatic CAG expansions in HD mice improves motor function and disease markers, suggesting therapeutic potential for HD and similar repeat expansion diseases.

This paper establishes a patient-derived blood-brain barrier model using hiPSCs to study BBB dysfunction in ALS and identifies specific TARDBP mutations that do not cause BBB issues.

This study identifies miR-1 and its target Multiplexin as key regulators in DM1-associated dilated cardiomyopathy using Drosophila models.

This study investigates splicing abnormalities in white matter of DM1 brains using RNA-seq, finding that WM defects may result from both GM and WM RNA splicing issues.

The paper shows FAN1 nuclease processes and pauses on slipped-DNA repeats, reducing repeat expansions and delaying disease onset.

The paper identifies straightjacket/α2δ3 deregulation as a contributor to cardiac conduction defects in DM1 by showing its overexpression in fly models and human patients.