Steven W. Pipe

TL;DR: The WFH Guidelines for the Management of Hemophilia panelists and co-authors thank the panelists for their time and share their views on how to better understand and treat hemophilia.

TL;DR: The findings indicate that reactive oxygen species are a signal generated by misfolded protein in the ER that cause UPR activation and cell death and may provide an avenue to treat and/or prevent diseases of protein misfolding.

TL;DR: It is shown that inactivating mutations in MCFD2 cause F5F8D with a phenotype indistinguishable from that caused by mutations in LMAN1, suggesting that theMCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins.

TL;DR: An international panel of hemophilia opinion leaders met to develop consensus recommendations for ITI in patients with severe and mild hemophiles and these recommendations draw on the available published literature and the collective clinical experience of the group and are rated based on the level of supporting evidence.

TL;DR: FVIII bioengineered for improved secretion will significantly increase potential for success in gene therapy strategies for hemophilia A as well as improve recombinant FVIII production in cell culture manufacturing or transgenic animals.