Biochem Biophys Res Commun manuscript!


Congratulation to Zorka and all co-authors on the BBRC manuscript detailing the characterization of the suspected pathological H333R variant of human protoporphyrinogen oxidase IX in vitro and in cells. Our data verify at the molecular level that PPOX(H333R) represents a variegate porphyria-causing mutation that can be considered the founder mutation in the Moroccan Jewish population. Great job!