Physiopathologie des Anémies rares et des Maladies de Surcharge

Liste non exhaustive 2020-2025

1: Saffioti NA, Sousa EB, Marin M, Leal Denis MF, Ostuni MA, Herlax V, Schwarzbaum PJ, Pallarola D. Escherichia coli α-hemolysin induces red blood cell retention in a microfluidic spleen-like device. Biophys J. 2025 Mar 11:S0006-3495(25)00137-7. doi: 10.1016/j.bpj.2025.03.001. Epub ahead of print. PMID: 40077968.

2: Chai Z, Li G, Ndour PA, Connes P, Buffet PA, Franco M, Karniadakis GE. In silico biophysics and rheology of blood and red blood cells in Gaucher Disease. bioRxiv [Preprint]. 2024 Dec 12:2024.12.10.627687. doi:10.1101/2024.12.10.627687. PMID: 39713391; PMCID: PMC11661219.

3: Maggio A, Napolitano M, Taher AT, Bou-Fakhredin R, Ostuni MA. Reframing thalassaemia syndrome as a benign haematopoietic stem cell disorder. Br J Haematol. 2025 Feb;206(2):464-477. doi: 10.1111/bjh.19919. Epub 2024 Dec 15. PMID: 39676308.

4: Orrico F, Lopez AC, Silva N, Franco M, Mouro-Chanteloup I, Denicola A, Ostuni MA, Thomson L, Möller MN. Hydrogen peroxide diffusion across the red blood cell membrane occurs mainly by simple diffusion through the lipid fraction. Free Radic Biol Med. 2025 Jan;226:389-396. doi: 10.1016/j.freeradbiomed.2024.11.031. Epub 2024 Nov 17. PMID: 39551450.

5: Raynor A, Peoc'h K, Boi C, Manceau H, Pissard S, Diallo K, Kannengiesser C, Rohrlich P. Marked microcytosis and increased transferrin saturation: Think about variants in SLC11A2 (DMT1). Blood Cells Mol Dis. 2025 Feb;110:102898. doi: 10.1016/j.bcmd.2024.102898. Epub 2024 Nov 2. PMID: 39531753.

6: Romana M, Laurance S, Hardy-Dessources MD, Claer L, Ravion S, Dorgham K, Garnier Y, Kuznicki L, Tarer V, Tressières B, Lefevre SD, Baccini V, Ostuni MA, Le Van Kim C, Etienne-Julan M. Mitochondrial retention in mature red blood cells from patients with sickle cell disease is associated with stress erythropoiesis but not with proinflammatory state. Hemasphere. 2024 Oct 28;8(11):e70030. doi: 10.1002/hem3.70030. PMID: 39473454; PMCID: PMC11513883.

7: Lefebvre T, Eguether T, Thévenot E, Poli A, Chu-Van E, Krasniqi P, Schmitt C, Talbi N, Nicolas G, Puy H, Junot C, Lamazière A, Castelli F, Gouya L, Fenaille F. Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients. J Inherit Metab Dis. 2025 Jan;48(1):e12809. doi: 10.1002/jimd.12809. Epub 2024 Oct 25. PMID: 39460373.

8: Theuriet J, Gerfaud-Valentin M, Durel CA, Gouya L, Pegat A. Neuralgic amyotrophy presentation of acute intermittent porphyria: A case report. J Peripher Nerv Syst. 2024 Dec;29(4):567-569. doi: 10.1111/jns.12668. Epub 2024 Oct 18. PMID: 39425488; PMCID: PMC11625988.

9: Córdoba KM, Jericó D, Jiang L, Collantes M, Alegre M, García-Ruiz L, Manzanilla O, Sampedro A, Herranz JM, Insausti I, Martinez de la Cuesta A, Urigo F, Alcaide P, Morán M, Martín MA, Lanciego JL, Lefebvre T, Gouya L, Quincoces G, Unzu C, Hervas-Stubbs S, Falcón-Pérez JM, Alegre E, Aldaz A, Fernández-Seara MA, Peñuelas I, Berraondo P, Martini PGV, Avila MA, Fontanellas A. Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates. Gut. 2025 Jan 17;74(2):270-283. doi: 10.1136/gutjnl-2024-332619. PMID: 39366725; PMCID: PMC11874285.

10: Li G, Li H, Ndour PA, Franco M, Li X, MacDonald I, Dao M, Buffet PA, Karniadakis GE. Red blood cell passage through deformable interendothelial slits in the spleen: Insights into splenic filtration and hemodynamics. Comput Biol Med. 2024 Nov;182:109198. doi: 10.1016/j.compbiomed.2024.109198. Epub 2024 Sep 27. PMID: 39341110; PMCID: PMC11560667.

11: Bouchereau J, Wicker C, Mention K, Marbach C, Do Cao J, Berat CM, Jaroussie M, Cano A, Gorce M, Garros A, Kuster A, Hoebeke C, Mayer C, Brassier A, Gouya L, Schrimpf C, Arnoux JB, Schiff M, Acquaviva-Bourdain C, Benoist JF, Courapied S, Broué P, Oualha M, Douillard C, de Lonlay P. Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108579. doi:10.1016/j.ymgme.2024.108579. Epub 2024 Sep 14. PMID: 39305737.

12: Poli A, Schmitt C, Puy H, Talbi N, Lefebvre T, Gouya L. Erythropoietic protoporphyrias: updates and advances. Trends Mol Med. 2024 Sep;30(9):863-874. doi: 10.1016/j.molmed.2024.05.006. Epub 2024 Jun 17. PMID: 38890030.

13: Belot A, Puy H, Hamza I, Bonkovsky HL. Update on heme biosynthesis, tissue-specific regulation, heme transport, relation to iron metabolism and cellular energy. Liver Int. 2024 Sep;44(9):2235-2250. doi: 10.1111/liv.15965. Epub 2024 Jun 18. PMID: 38888238; PMCID: PMC11625177.

14: Pérez Vázquez K, Tau J, Leal Denis MF, Fader CM, Ostuni MA, Schwarzbaum PJ, Herlax V. Alpha hemolysin of Escherichia coli induces a necrotic-like procoagulant state in platelets. Biochimie. 2024 Dec;227(Pt A):1-14. doi: 10.1016/j.biochi.2024.06.001. Epub 2024 Jun 8. PMID: 38857695.

15: Redonnet-Vernhet I, Mercié P, Lebreton L, Blouin JM, Bronnimann D, Mesli S, Guibet C, Ribeiro E, Gensous N, Duffau P, Gouya L, Richard E. Preventin hyperhomocysteinemia using vitamin B₆ supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review. Mol Genet Metab Rep. 2024 Apr 4;39:101076. doi:10.1016/j.ymgmr.2024.101076. PMID: 38601120; PMCID: PMC11004984.

16: Peterlin P, Bonnelye J, Garnier A, Le Bourgeois A, Guillaume T, Jullien M, Dutartre H, Le Moigne M, Schmitt C, Gouya L, Poli A, Barbarot S, Chevallier P. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report. Skin Health Dis. 2024 Jan 27;4(2):e342. doi: 10.1002/ski2.342. PMID: 38577034; PMCID: PMC10988712.

17: Fraering J, Salnot V, Gautier EF, Ezinmegnon S, Argy N, Peoc'h K, Manceau H, Alao J, Guillonneau F, Migot-Nabias F, Bertin GI, Kamaliddin C; Neuro CM consortium. Infected erythrocytes and plasma proteomics reveal a specific protein signature of severe malaria. EMBO Mol Med. 2024 Feb;16(2):319-333. doi: 10.1038/s44321-023-00010-0. Epub 2024 Jan 31. PMID: 38297098; PMCID: PMC10897182.

18: Goudet C, Ged C, Petit A, Desage C, Mahe P, Salhi A, Harzallah I, Blouin JM, Mercie P, Schmitt C, Poli A, Gouya L, Barlogis V, Richard E. Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives. Life (Basel). 2024 Jan 17;14(1):130. doi: 10.3390/life14010130. PMID: 38255745; PMCID: PMC10817338.

19: Poli A, Frieri C, Lefebvre T, Delforge J, Mirmiran A, Talbi N, Moulouel B, Six M, Paradis V, Parquet N, Puy H, Schmitt C, Aslangul E, de Fontbrune FS, Gouya L. Management of erythropoietic protoporphyria with cholestatic liver disease: A case report. Mol Genet Metab Rep. 2023 Oct 31;37:101018. doi: 10.1016/j.ymgmr.2023.101018. PMID: 38053924; PMCID: PMC10694760.

20: Cané L, Saffioti NA, Genetet S, Daza Millone MA, Ostuni MA, Schwarzbaum PJ, Mouro-Chanteloup I, Herlax V. Alpha hemolysin of E. coli induces hemolysis of human erythrocytes independently of toxin interaction with membrane proteins. Biochimie. 2024 Jan;216:3-13. doi: 10.1016/j.biochi.2023.10.008. Epub 2023 Oct 13. PMID: 37820991.

21: Bettioui T, Chipeaux C, Ben Arfa K, Héron S, Belmatoug N, Franco M, de Person M, Moussa F. Development of a new online SPE-HPLC-MS/MS method for the profiling and quantification of sphingolipids and phospholipids in red blood cells - Application to the study of Gaucher's disease. Anal Chim Acta. 2023 Oct 16;1278:341719. doi: 10.1016/j.aca.2023.341719. Epub 2023 Aug 21. PMID: 37709430.

22: Orrico F, Laurance S, Lopez AC, Lefevre SD, Thomson L, Möller MN, Ostuni MA. Oxidative Stress in Healthy and Pathological Red Blood Cells. Biomolecules. 2023 Aug 18;13(8):1262. doi: 10.3390/biom13081262. PMID: 37627327; PMCID: PMC10452114.

23: Poli A, Manceau H, Nguyen AL, Moulouel B, Dessendier N, Talbi N, Puy H, Junot C, Gouya L, Schmitt C, Lefebvre T. Quantification of Urine and Plasma Porphyrin Precursors Using LC-MS in Acute Hepatic Porphyrias: Improvement in Routine Diagnosis and in the Monitoring of Kidney Failure Patients. Clin Chem. 2023 Oct 3;69(10):1186-1196. doi: 10.1093/clinchem/hvad117. PMID: 37608428.

24: Lefebvre T, Boutten A, Raulet-Bussian C, Raynor A, Manceau H, Puy H, Moulouel B, Schmitt C, Timsit JF, Lefort A, Weiss E, Lescure FX, Ricard JD, Sonneville R, Peoc'h K. Evaluation of iron metabolism in hospitalized COVID-19 patients. Clin Chim Acta. 2023 Aug 1;548:117509. doi: 10.1016/j.cca.2023.117509. Epub 2023 Aug 5. PMID: 37549821.

25: Stein PE, Edel Y, Mansour R, Mustafa RA, Sandberg S; Members of the Acute Porphyria Expert Panel. Key terms and definitions in acute porphyrias: Results of an international Delphi consensus led by the European porphyria network. J Inherit Metab Dis. 2023 Jul;46(4):662-674. doi: 10.1002/jimd.12612. Epub 2023 May 11. PMID: 37067064.

26: Raynor A, Stefanescu C, Bruneel A, Puy H, Peoc'h K, Manceau H. Reversible atransferrinemia in a patient with chronic enteropathy: is transferrin mandatory for iron transport? Biochem Med (Zagreb). 2023 Feb 15;33(1):010801. doi: 10.11613/BM.2023.010801. Epub 2022 Dec 15. PMID: 36627980; PMCID: PMC9807235.

27: Blet A, McNeil JB, Josse J, Cholley B, Cinotti R, Cotter G, Dauvergne A, Davison B, Duarte K, Duranteau J, Fournier MC, Gayat E, Jaber S, Lasocki S, Merkling T, Peoc'h K, Mayer I, Sadoune M, Laterre PF, Sonneville R, Ware L, Mebazaa A, Kimmoun A. Association between in-ICU red blood cells transfusion and 1-year mortality in ICU survivors. Crit Care. 2022 Oct 7;26(1):307. doi:10.1186/s13054-022-04171-1. PMID: 36207737; PMCID: PMC9547456.

28: Gaubert S, Hourregue C, Mouton-Liger F, Millot P, Franco M, Amar-Bouaziz E, Aarsland D, Hugon J, Paquet C. Exploring the link between GBA1 mutations and Dementia with Lewy bodies, A mini-review. Neurosci Biobehav Rev. 2022 Oct;141:104856. doi: 10.1016/j.neubiorev.2022.104856. Epub 2022 Sep 6. PMID: 36084847.

29: Rougé S, Genetet S, Leal Denis MF, Dussiot M, Schwarzbaum PJ, Ostuni MA, Mouro-Chanteloup I. Mechanosensitive Pannexin 1 Activity Is Modulated by Stomatin in Human Red Blood Cells. Int J Mol Sci. 2022 Aug 20;23(16):9401. doi: 10.3390/ijms23169401. PMID: 36012667; PMCID: PMC9409209.

30: Manceau H, Ausseil J, Masson D, Feugeas JP, Sablonniere B, Guieu R, Puy H, Peoc'h K. Neglected Comorbidity of Chronic Heart Failure: Iron Deficiency. Nutrients. 2022 Aug 5;14(15):3214. doi: 10.3390/nu14153214. PMID: 35956390; PMCID: PMC9370238.

31: Ventura P, Sardh E, Longo N, Balwani M, Plutzky J, Gouya L, Phillips J, Rhyee S, Fanelli MJ, Sweetser MT, Petrides PE. Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran. Expert Rev Gastroenterol Hepatol. 2022 Sep;16(9):879-894. doi: 10.1080/17474124.2022.2110469. Epub 2022 Aug 25. PMID: 35929959.

32: Dupuis L, Chauvet M, Bourdelier E, Dussiot M, Belmatoug N, Le Van Kim C, Chêne A, Franco M. Phagocytosis of Erythrocytes from Gaucher Patients Induces Phenotypic Modifications in Macrophages, Driving Them toward Gaucher Cells. Int J Mol Sci. 2022 Jul 11;23(14):7640. doi: 10.3390/ijms23147640. PMID: 35886988; PMCID: PMC9319206.

33: Alvarez CL, Chêne A, Semblat JP, Gamain B, Lapouméroulie C, Fader CM, Hattab C, Sévigny J, Denis MFL, Lauri N, Ostuni MA, Schwarzbaum PJ. Homeostasis of extracellular ATP in uninfected RBCs from a Plasmodium falciparum culture and derived microparticles. Biochim Biophys Acta Biomembr. 2022 Oct 1;1864(10):183980. doi: 10.1016/j.bbamem.2022.183980. Epub 2022 May 30. PMID: 35654147.

34: Cacoub P, Choukroun G, Cohen-Solal A, Luporsi E, Peyrin-Biroulet L, Peoc'h K, Andrieu V, Lasocki S, Puy H, Trochu JN. Iron deficiency screening is a key issue in chronic inflammatory diseases: A call to action. J Intern Med. 2022 Oct;292(4):542-556. doi: 10.1111/joim.13503. Epub 2022 May 3. PMID: 35466452; PMCID: PMC9544998.

35: Peyrin-Biroulet L, Bouguen G, Laharie D, Pellet G, Savoye G, Gilletta C, Michiels C, Buisson A, Fumery M, Trochu JN, Cacoub P; CARENFER study group. Iron Deficiency in Patients with Inflammatory Bowel Diseases: A Prospective Multicenter Cross-Sectional Study. Dig Dis Sci. 2022 Dec;67(12):5637-5646. doi: 10.1007/s10620-022-07474-z. Epub 2022 Apr 6. PMID: 35384624; PMCID: PMC9652270.

36: Cacoub P, Choukroun G, Cohen-Solal A, Luporsi E, Peyrin-Biroulet L, Peoc'h K, Andrieu V, Lasocki S, Puy H, Trochu JN. Towards a Common Definition for the Diagnosis of Iron Deficiency in Chronic Inflammatory Diseases. Nutrients. 2022 Feb 28;14(5):1039. doi: 10.3390/nu14051039. PMID: 35268014; PMCID: PMC8912638.

37: Raynor A, Peoc'h K, Boutten A. Measurement of glycosylated ferritin with Concanavalin A: Assay design, optimization and validation. J Chromatogr B Analyt Technol Biomed Life Sci. 2022 Apr 1;1194:123184. doi: 10.1016/j.jchromb.2022.123184. Epub 2022 Feb 26. PMID: 35240430.

38: Dussouchaud A, Jacob J, Secq C, Verbavatz JM, Moras M, Larghero J, Fader CM, Ostuni MA, Lefevre SD. Transmission Electron Microscopy to Follow Ultrastructural Modifications of Erythroblasts Upon ex vivo Human Erythropoiesis. Front Physiol. 2022 Feb 9;12:791691. doi: 10.3389/fphys.2021.791691. PMID: 35222062; PMCID: PMC8864112.

39: O'Donohue MF, Da Costa L, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby M, Lefevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc T, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW. HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846. PMID: 35213692; PMCID: PMC9136880.

40: Touzot M, Lefebvre T, Maheas C, Peoc’h K, Ureña-Torres P, Ridel C, Puy H, Karim Z. Kinetics of serum hepcidin and interleukin-6 levels following COVID-19 infection in hemodialysis patients. Clin Kidney J. 2021 Dec 8;15(3):582-583. doi: 10.1093/ckj/sfab254. PMID: 35211314; PMCID: PMC8862036.

41: Mégier C, Peoc’h K, Puy H, Cordier AG. Iron Metabolism in Normal and Pathological Pregnancies and Fetal Consequences. Metabolites. 2022 Jan 29;12(2):129. doi: 10.3390/metabo12020129. PMID: 35208204; PMCID: PMC8876952.

42: Daher R, Ducrot N, Lefebvre T, Zineeddine S, Ausseil J, Puy H, Karim Z. Crosstalk between Acidosis and Iron Metabolism: Data from In Vivo Studies. Metabolites. 2022 Jan 18;12(2):89. doi: 10.3390/metabo12020089. PMID: 35208164; PMCID: PMC8874512.

43: Poli A, Schmitt C, Moulouel B, Mirmiran A, Talbi N, Rivière S, Cerutti D, Bouchoule I, Faivre A, Grobost V, Douillard C, Duchêne F, Fiorentino V, Dupré T, Manceau H, Peoc’h K, Puy H, Lefebvre T, Gouya L. Givosiran in acute intermittent porphyria: A personalized medicine approach. Mol Genet Metab. 2022 Mar;135(3):206-214. doi: 10.1016/j.ymgme.2022.01.002. Epub 2022 Jan 10. PMID: 35058124.

44: Saffioti NA, Lauri N, Cané L, Gonzalez-Lebrero R, Alleva K, Mouro-Chanteloup I, Ostuni MA, Herlax V, Schwarzbaum PJ. Interactive Dynamics of Cell Volume and Cell Death in Human Erythrocytes Exposed to α-Hemolysin from Escherichia coli. Int J Mol Sci. 2022 Jan 14;23(2):872. doi: 10.3390/ijms23020872. PMID: 35055067; PMCID: PMC8778525. 

45: Poli A, Schmitt C, Moulouel B, Mirmiran A, Puy H, Lefèbvre T, Gouya L. Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay. Metabolites. 2021 Nov 23;11(12):798. doi: 10.3390/metabo11120798. PMID: 34940556; PMCID: PMC8705723.

46: Orrico F, Lopez AC, Saliwonczyk D, Acosta C, Rodriguez-Grecco I, Mouro-Chanteloup I, Ostuni MA, Denicola A, Thomson L, Möller MN. The permeability of human red blood cell membranes to hydrogen peroxide is independent of aquaporins. J Biol Chem. 2022 Jan;298(1):101503. doi: 10.1016/j.jbc.2021.101503. Epub 2021 Dec 18. PMID: 34929164; PMCID: PMC8753180.

47: Farrell CP, Nicolas G, Desnick RJ, Parker CJ, Lamoril J, Gouya L, Karim Z, Tchernitchko D, Chan B, Puy H, Phillips JD. ABCB6 polymorphisms are not overly represented in patients with porphyria. Blood Adv. 2022 Feb 8;6(3):760-766. doi: 10.1182/bloodadvances.2021005484. PMID: 34724702; PMCID: PMC8945301.

48: Ventura P, Bonkovsky HL, Gouya L, Aguilera-Peiró P, Montgomery Bissell D, Stein PE, Balwani M, Anderson DKE, Parker C, Kuter DJ, Monroy S, Oh J, Ritchie B, Ko JJ, Hua Z, Sweetser MT, Sardh E; ENVISION Investigators. Efficacy and safety of givosiran for acute hepatic porphyria: 24-month interim analysis of the randomized phase 3 ENVISION study. Liver Int. 2022 Jan;42(1):161-172. doi: 10.1111/liv.15090. Epub 2021 Nov 16. PMID: 34717041; PMCID: PMC9299194.

49: Jericó D, Córdoba KM, Jiang L, Schmitt C, Morán M, Sampedro A, Alegre M, Collantes M, Santamaría E, Alegre E, Culerier C, de Mendoza AE, Oyarzabal J, Martín MA, Peñuelas I, Ávila MA, Gouya L, Martini PGV, Fontanellas A. mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks. Mol Ther Nucleic Acids. 2021 May 19;25:207-219. doi: 10.1016/j.omtn.2021.05.010. PMID: 34458006; PMCID: PMC8368795.

50: Lefebvre T, Coupaye M, Esposito-Farèse M, Gault N, Talbi N, Quintin C, Schmitt C, Bekri S, Bado A, Puy H, Msika S, Brasse-Lagnel C, Karim Z. Hepcidin and Iron Deficiency in Women One Year after Sleeve Gastrectomy: A Prospective Cohort Study. Nutrients. 2021 Jul 23;13(8):2516. doi: 10.3390/nu13082516. PMID: 34444676; PMCID: PMC8398210.

51: Rondelli CM, Perfetto M, Danoff A, Bergonia H, Gillis S, O'Neill L, Jackson L, Nicolas G, Puy H, West R, Phillips JD, Yien YY. The ubiquitous mitochondrial protein unfoldase CLPX regulates erythroid heme synthesis by control of iron utilization and heme synthesis enzyme activation and turnover. J Biol Chem. 2021 Aug;297(2):100972. doi: 10.1016/j.jbc.2021.100972. Epub 2021 Jul 16. PMID: 34280433; PMCID: PMC8361296.

52: Schachter J, Alvarez CL, Bazzi Z, Faillace MP, Corradi G, Hattab C, Rinaldi DE, Gonzalez-Lebrero R, Molineris MP, Sévigny J, Ostuni MA, Schwarzbaum PJ. Extracellular ATP hydrolysis in Caco-2 human intestinal cell line. Biochim Biophys Acta Biomembr. 2021 Oct 1;1863(10):183679. doi: 10.1016/j.bbamem.2021.183679. Epub 2021 Jul 1. PMID: 34216588.

53: Delaby C, Vialaret J, Hirtz C, Lefebvre T, Herkert M, Puy H, Lasocki S, Lehmann S; HEPCIDANE study group. Analytical comparison of ELISA and mass spectrometry for quantification of serum hepcidin in critically ill patients. Bioanalysis. 2021 Jul;13(13):1029-1035. doi: 10.4155/bio-2021-0069. Epub 2021 Jun 8. PMID: 34100293.

54: Martino S, Arlet JB, Odièvre MH, Jullien V, Moras M, Hattab C, Lefebvre T, Gouya L, Ostuni MA, Lefevre SD, Le Van Kim C. Deficient mitophagy pathways in sickle cell disease. Br J Haematol. 2021 Jun;193(5):988-993. doi: 10.1111/bjh.17416. Epub 2021 Mar 22. PMID: 33754349.

55: Blouin JM, Ged C, Bernardo-Seisdedos G, Cabantous T, Pinson B, Poli A, Puy H, Millet O, Gouya L, Morice-Picard F, Richard E. Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy. Mol Genet Metab Rep. 2021 Feb 11;27:100722. doi: 10.1016/j.ymgmr.2021.100722. PMID: 33659185; PMCID: PMC7890299.

56: Ducamp S, Luscieti S, Ferrer-Cortès X, Nicolas G, Manceau H, Peoc’h K, Yien YY, Kannengiesser C, Gouya L, Puy H, Sanchez M. A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria. Haematologica. 2021 Jul 1;106(7):2030-2033. doi: 10.3324/haematol.2020.272450. PMID: 33596641; PMCID: PMC8252951.

57: Lasocki S, Asfar P, Jaber S, Ferrandiere M, Kerforne T, Asehnoune K, Montravers P, Seguin P, Peoc’h K, Gergaud S, Nagot N, Lefebvre T, Lehmann S; Hepcidane study group. Impact of treating iron deficiency, diagnosed according to hepcidin quantification, on outcomes after a prolonged ICU stay compared to standard care: a multicenter, randomized, single-blinded trial. Crit Care. 2021 Feb 15;25(1):62. doi: 10.1186/s13054-020-03430-3. PMID: 33588893; PMCID: PMC7885380.

58: 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. Human erythroid differentiation requires VDAC1-mediated mitochondrial clearance. Haematologica. 2022 Jan 1;107(1):167-177. doi: 10.3324/haematol.2020.257121. PMID: 33406813; PMCID: PMC8719069.

59: Moras M, Hattab C, Gonzalez-Menendez P, Martino S, Larghero J, Le Van Kim C, Kinet S, Taylor N, Lefevre SD, Ostuni MA. Downregulation of Mitochondrial TSPO Inhibits Mitophagy and Reduces Enucleation during Human Terminal Erythropoiesis. Int J Mol Sci. 2020 Nov 28;21(23):9066. doi: 10.3390/ijms21239066. PMID: 33260618; PMCID: PMC7730461.

60: Balwani M, Sardh E, Gouya L. Givosiran for Acute Intermittent Porphyria. Reply. N Engl J Med. 2020 Nov 12;383(20):1989-1990. doi: 10.1056/NEJMc2026458. PMID: 33176092.

61: Cacoub P, Nicolas G, Peoc’h K. Iron deficiency markers in patients undergoing iron replacement therapy: a 9-year retrospective real-world evidence study using healthcare databases. Sci Rep. 2020 Sep 11;10(1):14983. doi: 10.1038/s41598-020-72057-9. PMID: 32917925; PMCID: PMC7486365.

62: Lazareth H, Talbi N, Kamar N, Levi C, Moulin B, Caillard S, Frimat L, Chemouny J, Chatelet V, Vachey C, Snanoudj R, Lefebvre T, Karras A, Gouya L, Schmitt C, Puy H, Pallet N. Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria. Mol Genet Metab. 2020 Sep-Oct;131(1-2):259-266. doi: 10.1016/j.ymgme.2020.08.004. Epub 2020 Sep 2. PMID:32893121.

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