Kaalak Reddy

This study shows that inosine misincorporation into mRNA activates the integrated stress response and an innate immune gene expression signature, linking ITPase deficiency to cellular stress.

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

The paper identifies small molecules that reduce expanded CAG RNA abundance in SCA patient and mouse models, showing repeat-selective effects across multiple SCAs.

This study characterizes switchback DNA, a left-handed DNA structure, showing its unique stability, nuclease resistance, and potential biological role in tandem repeats.

The paper shows that mutating two intronic nucleotides alters RNA structure and dynamics, disrupting MBNL1 and RBFOX1 regulation of INSR exon 11 splicing.

This study shows that CCG*CGG interruptions in SCA8 repeat expansions increase RAN protein levels and toxicity, contributing to higher disease penetrance.

This paper identifies ITPA mutations causing a lethal infantile dilated cardiomyopathy with Martsolf syndrome features and describes the molecular consequences of ITPase deficiency.