Karla Patricia Figueroa

The paper examines the localization of tRNA-splicing ligase complex proteins in SCA4 pontine neurons, finding their accumulation in neuronal intranuclear inclusions.

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 identifies MFN2 mutations in ALS patients and shows they impair mitochondrial function and increase TDP-43 levels in zebrafish 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.

The paper identifies TP73 variants as risk factors for ALS through exome sequencing and functional assays in cell lines and zebrafish.