Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.

@article{Costain2019AbsenceOI,
  title={Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.},
  author={Gregory Costain and Manik Chandra Ghosh and Nunziata Maio and Amanda Carnevale and Yue Cindy Si and Tracey A Rouault and Grace Y. Yoon},
  journal={Brain : a journal of neurology},
  year={2019},
  volume={142 5},
  pages={
          1195-1202
        }
}
Disruption of cellular iron homeostasis can contribute to neurodegeneration. In mammals, two iron-regulatory proteins (IRPs) shape the expression of the iron metabolism proteome. Targeted deletion of Ireb2 in a mouse model causes profoundly disordered iron metabolism, leading to functional iron deficiency, anemia, erythropoietic protoporphyria, and a neurodegenerative movement disorder. Using exome sequencing, we identified the first human with bi-allelic loss-of-function variants in the gene… CONTINUE READING
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