Abnormal features in mutant cerebellar Purkinje cells lacking junctophilins

Biochem Biophys Res Commun. 2007 Nov 23;363(3):835-9. doi: 10.1016/j.bbrc.2007.09.062. Epub 2007 Sep 24.


Junctional membrane complexes (JMCs) generated by junctophilins are required for Ca(2+)-mediated communication between cell-surface and intracellular channels in excitable cells. Knockout mice lacking neural junctophilins (JP-DKO) show severe motor defects and irregular cerebellar plasticity due to abolished channel crosstalk in Purkinje cells (PCs). To precisely understand aberrations in JP-DKO mice, we further analyzed the mutant PCs. During the induction of cerebellar plasticity via electrical stimuli, JP-DKO PCs showed insufficient depolarizing responses. Immunochemistry detected mild impairment in synaptic maturation and hyperphosphorylation of protein kinase Cgamma in JP-DKO PCs. Moreover, gene expression was slightly altered in the JP-DKO cerebellum. Therefore, the mutant PCs bear marginal but widespread abnormalities, all of which likely cause cerebellar motor defects in JP-DKO mice.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Action Potentials / genetics
  • Action Potentials / physiology
  • Animals
  • Calcium / metabolism
  • Cerebellum / cytology
  • Cerebellum / metabolism
  • Electric Stimulation
  • Gene Expression Profiling
  • Immunoblotting
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Membrane Proteins / physiology*
  • Mice
  • Mice, Knockout
  • Mutation*
  • Oligonucleotide Array Sequence Analysis
  • Phosphorylation
  • Protein Kinase C / metabolism
  • Purkinje Cells / metabolism
  • Purkinje Cells / physiology*


  • Membrane Proteins
  • junctophilin
  • protein kinase C gamma
  • Protein Kinase C
  • Calcium