[5][6][7] CSPG4 plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes.

It represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells.

[7] CSPG4/NG2 is also a hallmark protein of oligodendrocyte progenitor cells (OPCs)[8] and OPC dysfunction has been implicated as a candidate pathophysiological mechanism of familial schizophrenia.

The researchers also demonstrate that the induced pluripotent stem cells (iPSCs)-derived OPCs from CSPG4A131T mutation carriers exhibited abnormal post-translational processing, subcellular localization of the mutant NG2 protein, aberrant cellular morphology, and a decreased cell viability and myelination potential.

In vivo diffusion tensor imaging of the brain of CSPG4A131T mutation carriers demonstrated a reduced white matter integrity compared to the unaffected sibling and matched general population controls.