Kaalak Reddy

Inosine misincorporation into mRNA triggers the integrated stress response and activates an innate immune gene expression signature

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 selectively reduces expanded repeat RNA levels in models of myotonic dystrophy

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

CAG repeat-selective compounds reduce abundance of expanded CAG RNAs in patient cell and murine models of SCAs

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

CCG*CGG interruptions in high penetrance SCA8 families increase RAN translation and protein toxicity

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

ITPase Deficiency Causes Martsolf Syndrome With a Lethal Infantile Dilated Cardiomyopathy

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