Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemaly N, Rotig A, Lyonnet S, Colin Y, Barcia G, Cantagrel V, Le Van Kim C, Hermine O, Kinoshita T, Peyrard T, Azouzi S. Blood. 2021 Mar 24:blood.2020009810. doi: 10.1182/blood.2020009810. Online ahead of print. PMID: 3376370
The equilibrative nucleoside transporter 1 (ENT1) is critical for nucleotide homeostasis and optimal erythropoiesis.
Mikdar M, Gonzalez-Menendez P, Cai X, Zhang Y, Serra M, Dembélé AK, Boschat AC, Sanquer S, Chhuon C, Guerrera IC, Sitbon M, Hermine O, Colin Y, Le Van Kim C, Kinet S, Narla M, Xia Y, Peyrard T, Taylor N, Azouzi S.
Blood. 2021 Mar 10:blood.2020007281. doi: 10.1182/blood.2020007281. Online ahead of print. PMID: 33690842
Human erythroid differentiation requires VDAC1-mediated mitochondrial clearance. Moras M, Hattab C, Gonzalez-Menendez P, Fader CM, Dussiot M, Larghero J, Le Van Kim C, Kinet S, Taylor N, Lefevre SD, Ostuni MA. Haematologica. 2021 Jan 7. doi: 10.3324/haematol.2020.257121. PMID: 33406813
The proteome of neutrophils in sickle cell disease reveals an unexpected activation of interferon alpha signaling pathway. Hermand P, Azouzi S, Gautier EF, Guillonneau F, Bondet V, Duffy D, Dechavanne S, Tharaux PL, Mayeux P, Le Van Kim C, Koehl B. Haematologica. 2020 Dec 1;105(12):2851-2854. doi: 10.3324/haematol.2019.238295.
Lack of the multidrug transporter MRP4/ABCC4 defines the PEL-negative blood group and impairs platelet aggregation. Azouzi S, Mikdar M, Hermand P, Gautier EF, Salnot V, Willemetz A, Nicolas G, Vrignaud C, Raneri A, Mayeux P, Bole-Feysot C, Nitschké P, Cartron JP, Colin Y, Hermine O, Jedlitschky G, Cloutier M, Constanzo-Yanez J, Ethier C, Robitaille N, St-Louis M, Le Van Kim C, Peyrard T. Blood. 2020 Feb 6;135(6):441-448. doi: 10.1182/blood.2019002320.PMID: 31826245
Cell-derived microparticles and sickle cell disease chronic vasculopathy in sub-Saharan Africa: A multinational study. Dembélé AK, Lapoumeroulie C, Diaw M, Tessougue O, Offredo L, Diallo DA, Diop S, Elion J, Colin-Aronovicz Y, Tharaux PL, Jouven X, Romana M, Ranque B, Le Van Kim C. Br J Haematol. 2020 Nov 29. doi: 10.1111/bjh.17242. Online ahead of print.PMID: 33249569
Fetal hemoglobin rescues ineffective erythropoiesis in sickle cell disease. El Hoss S, Cochet S, Godard A, Yan H, Dussiot M, Frati G, Boutonnat-Faucher B, Laurance S, Renaud O, Joseph L, Miccio A, Brousse V, Mohandas N, El Nemer W. Haematologica. 2020 Aug 27:haematol.2020.265462. doi: 10.3324/haematol.2020.265462. Online ahead of print.PMID: 32855279
Plasma microparticles of sickle patients during crisis or taking hydroxyurea modify endothelium inflammatory properties. Garnier Y, Ferdinand S, Garnier M, Cita KC, Hierso R, Claes A, Connes P, Hardy-Dessources MD, Lapouméroulie C, Lemonne N, Etienne-Julan M, El Nemer W, Romana M. Blood. 2020 Jul 9;136(2):247-256. doi: 10.1182/blood.2020004853.PMID: 32285120
Effects of sphingolipids overload on red blood cell properties in Gaucher disease. Dupuis L, Chipeaux C, Bourdelier E, Martino S, Reihani N, Belmatoug N, Billette de Villemeur T, Hivert B, Moussa F, Le Van Kim C, de Person M, Franco M. J Cell Mol Med. 2020 Sep;24(17):9726-9736. doi: 10.1111/jcmm.15534. Epub 2020 Aug 7.PMID: 32767726
Downregulation of Mitochondrial TSPO Inhibits Mitophagy and Reduces Enucleation during Human Terminal Erythropoiesis. Moras M, Hattab C, Gonzalez-Menendez P, Martino S, Larghero J, Le Van Kim C, Kinet S, Taylor N, Lefevre SD, Ostuni MA. Int J Mol Sci. 2020 Nov 28;21(23):9066. doi: 10.3390/ijms21239066.PMID: 33260618