Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.

  title={Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.},
  author={Ashok Aspatwar and Martti E. E. Tolvanen and Eija Jokitalo and Mataleena Parikka and Csaba P. Ortutay and Sanna-Kaisa E. Harjula and Mika R{\"a}met and Mauno Vihinen and Seppo Parkkila},
  journal={Human molecular genetics},
  volume={22 3},
Congenital ataxia and mental retardation are mainly caused by variations in the genes that affect brain development. Recent reports have shown that mutations in the CA8 gene are associated with mental retardation and ataxia in humans and ataxia in mice. The gene product, carbonic anhydrase-related protein VIII (CARP VIII), is predominantly present in cerebellar Purkinje cells, where it interacts with the inositol 1,4,5-trisphosphate receptor type 1, a calcium channel. In this study, we… CONTINUE READING
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