Publications

• Publication date : 23 March 2021 More

  Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders

  Blood

  Authors : Romain Duval Nicolas Gaël Willemetz Alexandra Yoshiko Murakami Mahmoud Mikdar Cedric Vrignaud Hisham Megahed Jean-Pierre Cartron Cecile Masson Samer Wehbi Berengere Koehl Marie Hully Karine Siquier Nicole Chemaly Agnes Rotig Stanislas Lyonnet Yves Colin Giulia Barcia Vincent Cantagrel Caroline Le Van Kim Olivier Hermine Taroh Kinoshita Thierry Peyrard Slim Azouzi

• Publication date : 06 February 2019 More

  Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.

  Am J Hum Genet.

  Authors : Mirmiran Arienne Martin-Schmitt Caroline Lefebvre Thibaud Manceau Hana Daher Raed Oustric V Poli A Lacapère JJ Moulouel Boualem Puy Hervé Peoch'h Katell Lenglet H Simonin S Deybach Jean-Charles Nicolas Gaël Gouya Laurent

• Publication date : 18 September 2017 More

  Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.

  Proc Natl Acad Sci U S A

  Authors : Yien YY Ducamp S Van der Vorm LN Kardon JR Manceau Hana Kannengiesser Caroline Bergonia HA Kafina MD Gouya Laurent Baker TA Puy Hervé Phillips JD Nicolas Gaël Paw BH