Topic: PRKCG

Spinocerebellar ataxia (SCA) is a rare neurodegenerative disorder characterized by cerebellar dysfunction, involving Purkinje cell (PC) degeneration and cerebellar atrophy. With over 40 genetic variations, our focus is on SCA14 which is caused by mutations in the Protein Kinase C Gamma Gene (PRKCG). In our laboratory, we are taking advantage of two mouse models (PKCγ-S361G transgenic line and PKCγ-A24E knock-in line) with a constitutively active PKCγ, showing PC dendritic disruption and an ataxic motor phenotype. Using RNA-sequencing data comparing cerebellar samples from PKCγ-A24E mice with

Spinocerebellar ataxia 14 (SCA14) is a rare autosomal dominant neurodegenerative disease caused by mutations in protein kinase C gamma gene (PRKCG, PKCγ protein) leading to motor deficits and cognitive decline. PKCγ is a signalling protein strongly expressed in Purkinje cells (PCs) of the cerebellum and is known to be involved in the regulation of synapse formation and PC dendritic development. The effects of PKCγ are mediated by phosphorylation of target proteins which regulate cytoskeleton dynamics playing a critical role in dendritic development. However, the interaction of PKCγ with cytosk