Sharan Paul

This study shows that viral vector-mediated SLC9A6 gene replacement improves cerebellar dysfunction and motor phenotypes in shaker rats with Christianson syndrome.

The paper identifies a Slc9a6 mutation causing Purkinje cell loss and ataxia in shaker rats and shows gene therapy can reverse the phenotype.

This paper develops antisense oligonucleotides targeting STAU1 to treat ALS and SCA2, showing efficacy in reducing STAU1 expression and improving disease markers in mouse models.

The paper investigates how STAU1 interacts with mTOR to hyperactivate it and inhibit autophagy in neurodegenerative disease models.

The paper shows that activating the Cck1R pathway reduces mTORC1 signaling and protects Purkinje neurons in SCA mouse models.

This study identifies STAU1 as a modulator of the UPR that promotes apoptosis via the PERK-CHOP pathway in response to ER stress.

This study identifies MTSS1/Src family kinase dysregulation as a common mechanism in multiple inherited ataxias and shows SFK inhibitors can delay disease progression in mouse models.