Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

@inproceedings{Watt2015LysylH3,
  title={Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa},
  author={Stephen A. Watt and Jasbani H. S. Dayal and Sheila Wright and Megan E Riddle and Celine Pourreyron and J R Mcmillan and Roy M. Kimble and Marco Prisco and Ulrike Gartner and E Vicky Warbrick and W H Irwin McLean and Irene M. Leigh and J A McGrath and J C Salas-Alanis and Jakub Tolar and Andrew P South and Gerhard Wiche},
  booktitle={PloS one},
  year={2015}
}
Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in COL7A1 resulting in reduced or absent type VII collagen, aberrant anchoring fibril formation and subsequent dermal-epidermal fragility. Here, we identify a significant decrease in PLOD3 expression and its encoded protein, the collagen modifying enzyme lysyl hydroxylase 3 (LH3), in RDEB. We show abundant LH3 localising to the basement membrane in normal skin which is severely depleted in RDEB patient skin. We demonstrate… CONTINUE READING
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