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Quantitative Structural Insight into Human Variegate Porphyria Disease

7 Mar 2013

Abstract excerpt

Defects in the human protoporphyrinogen oxidase (hPPO) gene, resulting in ~50% decreased activity of hPPO, is responsible for the dominantly inherited disorder variegate porphyria (VP). To understand the molecular mechanism of VP, we employed the site-directed mutagenesis, biochemical assays, structural biology, and molecular dynamics simulation studies to investigate VP-causing hPPO mutants. We report here the...

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PMID: 23467411
DOI: 10.1074/jbc.m113.459768

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