Article
Impaired activity and membrane association of most calpain-5 mutants causal for neovascular inflammatory vitreoretinopathy.
Biochimica et biophysica acta. Molecular basis of disease - 1 Aug 2023
Geddes James W, Bondada Vimala, Croall Dorothy E, Rodgers David W, Gal Jozsef
Abstract excerpt
Neovascular inflammatory vitreoretinopathy (NIV) is a rare eye disease that ultimately leads to complete blindness and is caused by mutations in the gene encoding calpain-5 (CAPN5), with six pathogenic mutations identified. In transfected SH-SY5Y cells, five of the mutations resulted in decreased membrane association, diminished S-acylation, and reduced calcium-induced autoproteolysis of CAPN5. CAPN5 proteolysis...
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