PRKCG, protein kinase C gamma, 5582

N. diseases: 90; N. variants: 35
Disease: Cerebellar Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.020 Biomarker group BEFREE Our findings provide evidence for both an increased PKCγ activity in Purkinje cells in vivo and for pathological changes typical for cerebellar disease thus linking the increased and dysregulated activity of PKCγ tightly to the development of cerebellar disease in SCA-14 and possibly also in other forms of SCA. 24937631 2014
CUI: C0007760
Disease: Cerebellar Diseases
Cerebellar Diseases 		0.020 Biomarker group BEFREE These findings suggested that the oligomerization and aggregation of mutant γPKC caused improper dendritic development and apoptosis of PCs, which led to cerebellar dysfunction and SCA14 pathogenesis. 21666345 2011