Vikram G. Shakkottai

This study identifies ER stress and HSP90-dependent UPR as mechanisms underlying delayed onset of SCA6 motor dysfunction and Purkinje cell spiking abnormalities.

This study uses longitudinal single-nucleus RNA sequencing to analyze transcriptional dynamics in SCA1 cerebellum, identifying early cellular changes and applying deep learning to predict disease state.

This study identifies increased intrinsic membrane excitability in SCA1-KI mice as a novel mechanism underlying hypertrophic olivary degeneration without inhibitory denervation.

This study shows that neuronal activity regulates MATR3 levels and function through calpain cleavage and Ca2+/calmodulin binding, linking these processes to ALS pathology.

The paper describes a method to generate reproducible single-rosette brain organoids from human pluripotent stem cells and uses them to study structural phenotypes in neurodevelopmental disorders.

This study shows THAP1 regulates oligodendrocyte maturation by controlling lysosomal degradation of glycosaminoglycans in OPCs.

The paper identifies optimal chlorzoxazone-baclofen concentrations to improve cerebellar dysfunction in SCA1 without toxicity, proposing a dose escalation trial design.

This paper identifies five new genetic risk loci for Lewy body dementia through whole-genome sequencing and shows shared risk profiles with Alzheimer’s and Parkinson’s disease.

The paper identifies neurochemical biomarkers of SCA3 pathology in mouse models and shows their reversibility with ATXN3 reduction.

This paper describes a novel SCA3 human embryonic stem cell line and shows that antisense oligonucleotides reduce ATXN3 aggregation and prevent aggresome formation.

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.