{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T21:07:31Z","timestamp":1792789651754,"version":"4.5.0"},"reference-count":165,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T00:00:00Z","timestamp":1790121600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Universit\u00e9 Paris Cit\u00e9","award":["ANR-18-IDEX-0001"],"award-info":[{"award-number":["ANR-18-IDEX-0001"]}],"id":[{"id":"https:\/\/ror.org\/05f82e368","id-type":"ROR","asserted-by":"crossref"}]},{"award":["ANR-18-IDEX-0001"],"award-info":[{"award-number":["ANR-18-IDEX-0001"]}],"id":[{"id":"https:\/\/ror.org\/05f82e368","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. J. Mol. Sci.","IJMS"],"abstract":"<jats:p>Erythropoiesis requires extensive cellular remodeling, culminating in enucleation and organelle clearance to generate mature red blood cells (RBCs). Over the past 15 years, accumulating evidence has established that macroautophagy\u2014particularly ULK1-, NIX-, and PINK1-dependent mitophagy\u2014plays a central role in erythroid maturation. Defective autophagy can lead to mitochondrial retention, increased reactive oxygen species (ROS) production, membrane alterations, and ineffective erythropoiesis. Such abnormalities have now been documented in several hematological disorders, including myelodysplastic syndromes, Fanconi anemia, Diamond\u2013Blackfan anemia, sickle cell disease, and \u03b2-thalassemia. This review summarizes current knowledge of autophagy regulation during erythropoiesis, the molecular mechanisms governing mitochondrial clearance, and the pathological consequences of impaired autophagy in red blood cell disorders. Finally, we discuss emerging therapeutic strategies targeting autophagy pathways.<\/jats:p>","DOI":"10.3390\/ijms27198467","type":"journal-article","created":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T09:20:46Z","timestamp":1790155246000},"page":"8467","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Autophagy Defects and Mitochondrial Retention in Erythroid Diseases"],"prefix":"10.3390","volume":"27","author":[{"given":"Claudio M.","family":"Fader","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Celular y Molecular, Instituto de Histolog\u00eda y Embriolog\u00eda (IHEM), Universidad Nacional de Cuyo, CONICET, Mendoza M5502, Argentina"},{"name":"Facultad de Odontolog\u00eda, Universidad Nacional de Cuyo, Mendoza M5502, Argentina"},{"name":"Facultad de Medicina, Universidad del Aconcagua, Mendoza M5502, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2739-6290","authenticated-orcid":false,"given":"Julieta","family":"Jacob","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Celular y Molecular, Instituto de Histolog\u00eda y Embriolog\u00eda (IHEM), Universidad Nacional de Cuyo, CONICET, Mendoza M5502, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2468-0336","authenticated-orcid":false,"given":"Santiago","family":"Castro Perez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Celular y Molecular, Instituto de Histolog\u00eda y Embriolog\u00eda (IHEM), Universidad Nacional de Cuyo, CONICET, Mendoza M5502, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8112-0041","authenticated-orcid":false,"given":"C\u00e9cile","family":"Deleschaux","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM, EFS, BIGR U1134, team PAMS, 75015 Paris, France"},{"name":"Initiatives IdEx Globule Rouge d\u2019Excellence (InIdex GR-Ex), Universit\u00e9 Paris Cit\u00e9, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6785-6167","authenticated-orcid":false,"given":"Alice","family":"Dussouchaud","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM, EFS, BIGR U1134, team PAMS, 75015 Paris, France"},{"name":"Initiatives IdEx Globule Rouge d\u2019Excellence (InIdex GR-Ex), Universit\u00e9 Paris Cit\u00e9, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1671-8274","authenticated-orcid":false,"given":"Ga\u00ebl","family":"Nicolas","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM, EFS, BIGR U1134, team PAMS, 75015 Paris, France"},{"name":"Initiatives IdEx Globule Rouge d\u2019Excellence (InIdex GR-Ex), Universit\u00e9 Paris Cit\u00e9, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2312-0205","authenticated-orcid":false,"given":"Betiana N.","family":"Salassa","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Celular y Molecular, Instituto de Histolog\u00eda y Embriolog\u00eda (IHEM), Universidad Nacional de Cuyo, CONICET, Mendoza M5502, Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7504-1881","authenticated-orcid":false,"given":"Sophie D.","family":"Lefevre","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM, EFS, BIGR U1134, team PAMS, 75015 Paris, France"},{"name":"Initiatives IdEx Globule Rouge d\u2019Excellence (InIdex GR-Ex), Universit\u00e9 Paris Cit\u00e9, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6769-3786","authenticated-orcid":false,"given":"Mariano A.","family":"Ostuni","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Cit\u00e9, INSERM, EFS, BIGR U1134, team PAMS, 75015 Paris, France"},{"name":"Initiatives IdEx Globule Rouge d\u2019Excellence (InIdex GR-Ex), Universit\u00e9 Paris Cit\u00e9, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,9,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Palis, J. (2014). Primitive and Definitive Erythropoiesis in Mammals. Front. Physiol., 5.","DOI":"10.3389\/fphys.2014.00003"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Moras, M., Lefevre, S.D., and Ostuni, M.A. (2017). From Erythroblasts to Mature Red Blood Cells: Organelle Clearance in Mammals. Front. Physiol., 8.","DOI":"10.3389\/fphys.2017.01076"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.3324\/haematol.2018.192518","article-title":"Normal and Pathological Erythropoiesis in Adults: From Gene Regulation to Targeted Treatment Concepts","volume":"103","author":"Valent","year":"2018","journal-title":"Haematologica"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1111\/bjh.19600","article-title":"Mitochondrial Regulation of Erythropoiesis in Homeostasis and Disease","volume":"205","author":"Menon","year":"2024","journal-title":"Br. J. Haematol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"167","DOI":"10.3324\/haematol.2020.257121","article-title":"Human Erythroid Differentiation Requires VDAC1-Mediated Mitochondrial Clearance","volume":"107","author":"Moras","year":"2022","journal-title":"Haematologica"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2490","DOI":"10.1182\/bloodadvances.2021004259","article-title":"Mitochondrial Localization and Moderated Activity Are Key to Murine Erythroid Enucleation","volume":"5","author":"Liang","year":"2021","journal-title":"Blood Adv."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1242\/jcs.064576","article-title":"The Regulation of Autophagy\u2014Unanswered Questions","volume":"124","author":"Chen","year":"2011","journal-title":"J. Cell Sci."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.bbamcr.2008.07.014","article-title":"Autophagy: A Lysosomal Degradation Pathway with a Central Role in Health and Disease","volume":"1793","author":"Eskelinen","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"740","DOI":"10.4161\/auto.6398","article-title":"Autophagy Revisited: A Conversation with Christian de Duve","volume":"4","author":"Klionsky","year":"2008","journal-title":"Autophagy"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1901","DOI":"10.1016\/j.bbamcr.2009.09.011","article-title":"TI-VAMP\/VAMP7 and VAMP3\/Cellubrevin: Two v-SNARE Proteins Involved in Specific Steps of the Autophagy\/Multivesicular Body Pathways","volume":"1793","author":"Fader","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"4730","DOI":"10.1091\/mbc.e09-03-0225","article-title":"A Genomic Screen for Yeast Mutants Defective in Selective Mitochondria Autophagy","volume":"20","author":"Kanki","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1038\/ni.3273","article-title":"Autophagy and Autophagy-Related Proteins in the Immune System","volume":"16","author":"Shibutani","year":"2015","journal-title":"Nat. Immunol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"jcs246322","DOI":"10.1242\/jcs.246322","article-title":"Microautophagy\u2014Distinct Molecular Mechanisms Handle Cargoes of Many Sizes","volume":"133","author":"Schuck","year":"2020","journal-title":"J. Cell Sci."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1038\/s41580-022-00529-z","article-title":"The Emerging Mechanisms and Functions of Microautophagy","volume":"24","author":"Wang","year":"2023","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Andrade-Tomaz, M., de Souza, I., Rocha, C.R.R., and Gomes, L.R. (2020). The Role of Chaperone-Mediated Autophagy in Cell Cycle Control and Its Implications in Cancer. Cells, 9.","DOI":"10.3390\/cells9092140"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.semcancer.2013.05.007","article-title":"Autophagosome Formation\u2014The Role of ULK1 and Beclin1\u2013PI3KC3 Complexes in Setting the Stage","volume":"23","author":"Wirth","year":"2013","journal-title":"Semin. Cancer Biol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"12420","DOI":"10.1038\/ncomms12420","article-title":"Autophagy Initiation by ULK Complex Assembly on ER Tubulovesicular Regions Marked by ATG9 Vesicles","volume":"7","author":"Karanasios","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.4161\/auto.25529","article-title":"Temporal Analysis of Recruitment of Mammalian ATG Proteins to the Autophagosome Formation Site","volume":"9","author":"Itakura","year":"2013","journal-title":"Autophagy"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"506","DOI":"10.4161\/auto.6.4.11863","article-title":"Mammalian Atg18 (WIPI2) Localizes to Omegasome-Anchored Phagophores and Positively Regulates LC3 Lipidation","volume":"6","author":"Polson","year":"2010","journal-title":"Autophagy"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1038\/nature11910","article-title":"Autophagosomes Form at ER-Mitochondria Contact Sites","volume":"495","author":"Hamasaki","year":"2013","journal-title":"Nature"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2092","DOI":"10.1091\/mbc.e07-12-1257","article-title":"The Atg16L Complex Specifies the Site of LC3 Lipidation for Membrane Biogenesis in Autophagy","volume":"19","author":"Fujita","year":"2008","journal-title":"Mol. Biol. Cell"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1038\/embor.2013.6","article-title":"FIP200 Regulates Targeting of Atg16L1 to the Isolation Membrane","volume":"14","author":"Nishimura","year":"2013","journal-title":"EMBO Rep."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1038\/ncb0910-831","article-title":"The Origin of the Autophagosomal Membrane","volume":"12","author":"Tooze","year":"2010","journal-title":"Nat. Cell Biol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"39068","DOI":"10.1074\/jbc.M406960200","article-title":"Uth1p Is Involved in the Autophagic Degradation of Mitochondria","volume":"279","author":"Deffieu","year":"2004","journal-title":"J. Biol. Chem."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1016\/j.cell.2011.10.026","article-title":"Autophagy: Renovation of Cells and Tissues","volume":"147","author":"Mizushima","year":"2011","journal-title":"Cell"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1042\/bse0550051","article-title":"The Atg8 Family: Multifunctional Ubiquitin-like Key Regulators of Autophagy","volume":"55","author":"Slobodkin","year":"2013","journal-title":"Essays Biochem."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/embor.2009.256","article-title":"Nix Is a Selective Autophagy Receptor for Mitochondrial Clearance","volume":"11","author":"Novak","year":"2010","journal-title":"EMBO Rep."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"3237","DOI":"10.1242\/jcs.126128","article-title":"The LIR Motif\u2014Crucial for Selective Autophagy","volume":"126","author":"Birgisdottir","year":"2013","journal-title":"J. Cell Sci."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1042\/BJ20111451","article-title":"Autophagy, Mitochondria and Oxidative Stress: Cross-Talk and Redox Signalling","volume":"441","author":"Lee","year":"2012","journal-title":"Biochem. J."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"736","DOI":"10.7150\/thno.79876","article-title":"Cellular Mitophagy: Mechanism, Roles in Diseases and Small Molecule Pharmacological Regulation","volume":"13","author":"Lu","year":"2023","journal-title":"Theranostics"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1016\/j.bbrc.2008.10.104","article-title":"PINK1 Controls Mitochondrial Localization of Parkin through Direct Phosphorylation","volume":"377","author":"Kim","year":"2008","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.4161\/auto.6.8.13426","article-title":"P62\/SQSTM1 Is Required for Parkin-Induced Mitochondrial Clustering but Not Mitophagy; VDAC1 Is Dispensable for Both","volume":"6","author":"Narendra","year":"2010","journal-title":"Autophagy"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/path.4774","article-title":"In Brief: Mitophagy: Mechanisms and Role in Human Disease","volume":"240","author":"Springer","year":"2016","journal-title":"J. Pathol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/ncb2012","article-title":"PINK1\/Parkin-Mediated Mitophagy Is Dependent on VDAC1 and P62\/SQSTM1","volume":"12","author":"Geisler","year":"2010","journal-title":"Nat. Cell Biol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"3579","DOI":"10.1182\/bloodadvances.2021005910","article-title":"ATG4A Regulates Human Erythroid Maturation and Mitochondrial Clearance","volume":"6","author":"Stolla","year":"2022","journal-title":"Blood Adv."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1128\/MCB.01082-08","article-title":"Kinase-Inactivated ULK Proteins Inhibit Autophagy via Their Conserved C-Terminal Domains Using an Atg13-Independent Mechanism","volume":"29","author":"Chan","year":"2009","journal-title":"Mol. Cell. Biol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1493","DOI":"10.1182\/blood-2008-02-137398","article-title":"Ulk1 Plays a Critical Role in the Autophagic Clearance of Mitochondria and Ribosomes during Reticulocyte Maturation","volume":"112","author":"Kundu","year":"2008","journal-title":"Blood"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"405","DOI":"10.4161\/auto.6.3.11245","article-title":"Reticulocyte Mitophagy: Monitoring Mitochondrial Clearance in a Mammalian Model","volume":"6","author":"Zhang","year":"2010","journal-title":"Autophagy"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1182\/blood-2008-04-151639","article-title":"Mitochondrial Clearance Is Regulated by Atg7-Dependent and -Independent Mechanisms during Reticulocyte Maturation","volume":"114","author":"Zhang","year":"2009","journal-title":"Blood"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"461","DOI":"10.1111\/bjh.14057","article-title":"mTOR Inhibition Improves Anaemia and Reduces Organ Damage in a Murine Model of Sickle Cell Disease","volume":"174","author":"Wang","year":"2016","journal-title":"Br. J. Haematol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"14050","DOI":"10.1038\/ncomms14050","article-title":"A Rab5 Endosomal Pathway Mediates Parkin-Dependent Mitochondrial Clearance","volume":"8","author":"Hammerling","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1080\/21541248.2017.1342749","article-title":"Isolation of Rab5-Positive Endosomes Reveals a New Mitochondrial Degradation Pathway Utilized by BNIP3 and Parkin","volume":"11","author":"Hammerling","year":"2020","journal-title":"Small GTPases"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/boc.201500058","article-title":"Hemin Induces Mitophagy in a Leukemic Erythroblast Cell Line","volume":"108","author":"Fader","year":"2016","journal-title":"Biol. Cell"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1054","DOI":"10.3324\/haematol.2015.132589","article-title":"A Novel Role for Nuclear Factor-Erythroid 2 in Erythroid Maturation by Modulation of Mitochondrial Autophagy","volume":"101","author":"Gothwal","year":"2016","journal-title":"Haematologica"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1126\/science.1232398","article-title":"A KRAB\/KAP1-miRNA Cascade Regulates Erythropoiesis through Stage-Specific Control of Mitophagy","volume":"340","author":"Barde","year":"2013","journal-title":"Science"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0014-5793(01)02080-4","article-title":"Inhibition of 15-Lipoxygenase Leads to Delayed Organelle Degradation in the Reticulocyte","volume":"489","author":"Duvoisin","year":"2001","journal-title":"FEBS Lett."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"15296","DOI":"10.1021\/bi048745v","article-title":"High-Level Expression of Rabbit 15-Lipoxygenase Induces Collapse of the Mitochondrial pH Gradient in Cell Culture","volume":"43","author":"Vijayvergiya","year":"2004","journal-title":"Biochemistry"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.redox.2014.11.005","article-title":"A Novel Role for 12\/15-Lipoxygenase in Regulating Autophagy","volume":"4","author":"Morgan","year":"2015","journal-title":"Redox Biol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1038\/nature07006","article-title":"Essential Role for Nix in Autophagic Maturation of Erythroid Cells","volume":"454","author":"Sandoval","year":"2008","journal-title":"Nature"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"19500","DOI":"10.1073\/pnas.0708818104","article-title":"NIX Is Required for Programmed Mitochondrial Clearance during Reticulocyte Maturation","volume":"104","author":"Schweers","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1182\/blood-2002-11-3324","article-title":"The Proapoptotic Factor Nix Is Coexpressed with Bcl-xL during Terminal Erythroid Differentiation","volume":"102","author":"Aerbajinai","year":"2003","journal-title":"Blood"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1080\/15548627.2017.1357792","article-title":"BNIP3L\/NIX-Mediated Mitophagy Protects against Ischemic Brain Injury Independent of PARK2","volume":"13","author":"Yuan","year":"2017","journal-title":"Autophagy"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"7527","DOI":"10.1038\/ncomms8527","article-title":"Bcl-2-like Protein 13 Is a Mammalian Atg32 Homologue That Mediates Mitophagy and Mitochondrial Fragmentation","volume":"6","author":"Murakawa","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"E4439","DOI":"10.1073\/pnas.1405752111","article-title":"Optineurin Is an Autophagy Receptor for Damaged Mitochondria in Parkin-Mediated Mitophagy That Is Disrupted by an ALS-Linked Mutation","volume":"111","author":"Wong","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1016\/j.cell.2016.11.042","article-title":"Prohibitin 2 Is an Inner Mitochondrial Membrane Mitophagy Receptor","volume":"168","author":"Wei","year":"2017","journal-title":"Cell"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1080\/15548627.2017.1310789","article-title":"MARCH5-FUNDC1 Axis Fine-Tunes Hypoxia-Induced Mitophagy","volume":"13","author":"Chen","year":"2017","journal-title":"Autophagy"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1073\/pnas.0913170107","article-title":"Loss of Autophagy in Erythroid Cells Leads to Defective Removal of Mitochondria and Severe Anemia In Vivo","volume":"107","author":"Mortensen","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"4035","DOI":"10.1074\/jbc.M512283200","article-title":"Excess Peroxisomes Are Degraded by Autophagic Machinery in Mammals","volume":"281","author":"Iwata","year":"2006","journal-title":"J. Biol. Chem."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1177\/002215540104900508","article-title":"The Role of 15-Lipoxygenase in Disruption of the Peroxisomal Membrane and in Programmed Degradation of Peroxisomes in Normal Rat Liver","volume":"49","author":"Yokota","year":"2001","journal-title":"J. Histochem. Cytochem."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1002\/iub.537","article-title":"Peroxisome Degradation in Mammals","volume":"63","author":"Ezaki","year":"2011","journal-title":"IUBMB Life"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e72328","DOI":"10.7554\/eLife.72328","article-title":"Quantitative Proteomics Reveals the Selectivity of Ubiquitin-Binding Autophagy Receptors in the Turnover of Damaged Lysosomes by Lysophagy","volume":"10","author":"Eapen","year":"2021","journal-title":"eLife"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1172\/JCI107826","article-title":"Hereditary Hemolytic Anemia with Human Erythrocyte Pyrimidine 5\u2032-Nucleotidase Deficiency","volume":"54","author":"Valentine","year":"1974","journal-title":"J. Clin. Investig."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1152\/physiolgenomics.00247.2006","article-title":"The Human Reticulocyte Transcriptome","volume":"30","author":"Goh","year":"2007","journal-title":"Physiol. Genom."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1083\/jcb.101.3.942","article-title":"Electron Microscopic Evidence for Externalization of the Transferrin Receptor in Vesicular Form in Sheep Reticulocytes","volume":"101","author":"Pan","year":"1985","journal-title":"J. Cell Biol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1182\/blood.V74.5.1844.1844","article-title":"Reticulocyte Maturation and Exosome Release: Transferrin Receptor Containing Exosomes Shows Multiple Plasma Membrane Functions","volume":"74","author":"Johnstone","year":"1989","journal-title":"Blood"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1242\/jcs.103.1.211","article-title":"Characterization of Early and Late Endocytic Compartments of the Transferrin Cycle. Transferrin Receptor Antibody Blocks Erythroid Differentiation by Trapping the Receptor in the Early Endosome","volume":"103","author":"Killisch","year":"1992","journal-title":"J. Cell Sci."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.bcmd.2005.04.008","article-title":"Exosome Release by Reticulocytes--an Integral Part of the Red Blood Cell Differentiation System","volume":"35","author":"Blanc","year":"2005","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1046\/j.1432-1327.2000.01036.x","article-title":"Exosomes Released during Reticulocyte Maturation Bind to Fibronectin via Integrin Alpha4beta1","volume":"267","author":"Rieu","year":"2000","journal-title":"Eur. J. Biochem."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"9412","DOI":"10.1016\/S0021-9258(18)48095-7","article-title":"Vesicle Formation during Reticulocyte Maturation. Association of Plasma Membrane Activities with Released Vesicles (Exosomes)","volume":"262","author":"Johnstone","year":"1987","journal-title":"J. Biol. Chem."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"2021","DOI":"10.1182\/blood-2009-08-241182","article-title":"Membrane Remodeling during Reticulocyte Maturation","volume":"115","author":"Liu","year":"2010","journal-title":"Blood"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1007\/978-1-4684-5985-2_2","article-title":"The Loss of Enzyme Activity from Erythroid Cells during Maturation","volume":"307","author":"Thorburn","year":"1991","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.4161\/auto.20648","article-title":"The Ins and Outs of Human Reticulocyte Maturation: Autophagy and the Endosome\/Exosome Pathway","volume":"8","author":"Griffiths","year":"2012","journal-title":"Autophagy"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1182\/blood.V36.5.566.566","article-title":"Acquisition of Autophagic Vacuoles by Human Erythrocytes. Physiological Role of the Spleen","volume":"36","author":"Holroyde","year":"1970","journal-title":"Blood"},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"4264","DOI":"10.1038\/s41598-017-04388-z","article-title":"Contribution of Plasma Membrane Lipid Domains to Red Blood Cell (Re)Shaping","volume":"7","author":"Leonard","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.exphem.2017.02.003","article-title":"Pharmacological Inhibition of LSD1 and mTOR Reduces Mitochondrial Retention and Associated ROS Levels in the Red Blood Cells of Sickle Cell Disease","volume":"50","author":"Jagadeeswaran","year":"2017","journal-title":"Exp. Hematol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"3086","DOI":"10.3324\/haematol.2023.282684","article-title":"Increased Retention of Functional Mitochondria in Mature Sickle Red Blood Cells Is Associated with Increased Sickling Tendency, Hemolysis and Oxidative Stress","volume":"108","author":"Esperti","year":"2023","journal-title":"Haematologica"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1111\/bjh.17416","article-title":"Deficient Mitophagy Pathways in Sickle Cell Disease","volume":"193","author":"Martino","year":"2021","journal-title":"Br. J. Haematol."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1111\/bjh.18287","article-title":"Retention of Functional Mitochondria in Mature Red Blood Cells from Patients with Sickle Cell Disease","volume":"198","author":"Moriconi","year":"2022","journal-title":"Br. J. Haematol."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"105269","DOI":"10.1016\/j.exphem.2025.105269","article-title":"Mitochondrial Retention and Autophagy Dysregulation Drive Oxidative Stress in Sickle Cell Disease Erythrocytes","volume":"152","author":"Ramasamy","year":"2025","journal-title":"Exp. Hematol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"e70030","DOI":"10.1002\/hem3.70030","article-title":"Mitochondrial Retention in Mature Red Blood Cells from Patients with Sickle Cell Disease Is Associated with Stress Erythropoiesis but Not with Proinflammatory State","volume":"8","author":"Romana","year":"2024","journal-title":"Hemasphere"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"102660","DOI":"10.1016\/j.bcmd.2022.102660","article-title":"Mitapivat Increases ATP and Decreases Oxidative Stress and Erythrocyte Mitochondria Retention in a SCD Mouse Model","volume":"95","author":"Quezado","year":"2022","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1056\/NEJMra2021838","article-title":"\u03b2-Thalassemias","volume":"384","author":"Taher","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1007\/s00277-010-1152-5","article-title":"Enhanced Activation of Autophagy in \u03b2-Thalassemia\/Hb E Erythroblasts during Erythropoiesis","volume":"90","author":"Lithanatudom","year":"2011","journal-title":"Ann. Hematol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"eaav4881","DOI":"10.1126\/scitranslmed.aav4881","article-title":"The Autophagy-Activating Kinase ULK1 Mediates Clearance of Free \u03b1-Globin in \u03b2-Thalassemia","volume":"11","author":"Lechauve","year":"2019","journal-title":"Sci. Transl. Med."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1007\/s12185-016-2114-z","article-title":"Mitophagy Is Increased during Erythroid Differentiation in \u03b2-Thalassemia","volume":"105","author":"Wu","year":"2017","journal-title":"Int. J. Hematol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"18628","DOI":"10.1038\/s41598-022-21249-6","article-title":"Increased Autophagy Leads to Decreased Apoptosis during \u03b2-Thalassaemic Mouse and Patient Erythropoiesis","volume":"12","author":"Chaichompoo","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"4004","DOI":"10.1038\/ncomms5004","article-title":"Ulk1-Mediated Atg5-Independent Macroautophagy Mediates Elimination of Mitochondria from Embryonic Reticulocytes","volume":"5","author":"Honda","year":"2014","journal-title":"Nat. Commun."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"378","DOI":"10.2183\/pjab.93.023","article-title":"Molecular Mechanisms and Physiological Roles of Atg5\/Atg7-Independent Alternative Autophagy","volume":"93","author":"Arakawa","year":"2017","journal-title":"Proc. Jpn. Acad. Ser. B Phys. Biol. Sci."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1182\/blood.2022017265","article-title":"Loss of miR-144\/451 Alleviates \u03b2-Thalassemia by Stimulating ULK1-Mediated Autophagy of Free \u03b1-Globin","volume":"142","author":"Keith","year":"2023","journal-title":"Blood"},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"2639464","DOI":"10.1155\/2024\/2639464","article-title":"AZD8055 Is More Effective Than Rapamycin in Inhibiting Proliferation and Promoting Mitochondrial Clearance in Erythroid Differentiation","volume":"2024","author":"Liu","year":"2024","journal-title":"Anal. Cell. Pathol."},{"key":"ref_91","doi-asserted-by":"crossref","unstructured":"Zurlo, M., Zuccato, C., Cosenza, L.C., Gamberini, M.R., Finotti, A., and Gambari, R. (2024). Increased Expression of \u03b1-Hemoglobin Stabilizing Protein (AHSP) mRNA in Erythroid Precursor Cells Isolated from \u03b2-Thalassemia Patients Treated with Sirolimus (Rapamycin). J. Clin. Med., 13.","DOI":"10.3390\/jcm13092479"},{"key":"ref_92","doi-asserted-by":"crossref","unstructured":"Zurlo, M., Finotti, A., Gamberini, M.R., and Gambari, R. (2025). Co-Induction of ULK-1 and AHSP mRNAs in Erythroid Precursor Cells Isolated from a Sirolimus-Treated \u03b2-Thalassemia Patient: A Case Report Study. Br. J. Biomed. Sci., 82.","DOI":"10.3389\/bjbs.2025.14311"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"20406207221100648","DOI":"10.1177\/20406207221100648","article-title":"Expression of \u03b3-Globin Genes in \u03b2-Thalassemia Patients Treated with Sirolimus: Results from a Pilot Clinical Trial (Sirthalaclin)","volume":"13","author":"Zuccato","year":"2022","journal-title":"Ther. Adv. Hematol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"5265","DOI":"10.1182\/blood-2011-12-397729","article-title":"Integrated Protein Quality-Control Pathways Regulate Free \u03b1-Globin in Murine \u03b2-Thalassemia","volume":"119","author":"Khandros","year":"2012","journal-title":"Blood"},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"Suriyun, T., Winichagoon, P., Fucharoen, S., and Sripichai, O. (2022). Impaired Terminal Erythroid Maturation in \u03920-Thalassemia\/HbE Patients with Different Clinical Severity. J. Clin. Med., 11.","DOI":"10.3390\/jcm11071755"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"5639","DOI":"10.1038\/s41467-025-60676-7","article-title":"Imbalanced TGF\u03b2 Signalling and Autophagy Drive Erythroid Priming of Hematopoietic Stem Cells in \u03b2-Thalassemia","volume":"16","author":"Lidonnici","year":"2025","journal-title":"Nat. Commun."},{"key":"ref_97","doi-asserted-by":"crossref","unstructured":"Nasr, W., and Filippi, M.-D. (2022). Acquired and Hereditary Bone Marrow Failure: A Mitochondrial Perspective. Front. Oncol., 12.","DOI":"10.3389\/fonc.2022.1048746"},{"key":"ref_98","doi-asserted-by":"crossref","unstructured":"Parisi, S., Finelli, C., Fazio, A., De Stefano, A., Mongiorgi, S., Ratti, S., Cappellini, A., Billi, A.M., Cocco, L., and Follo, M.Y. (2021). Clinical and Molecular Insights in Erythropoiesis Regulation of Signal Transduction Pathways in Myelodysplastic Syndromes and \u03b2-Thalassemia. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22020827"},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"6328051","DOI":"10.1155\/2018\/6328051","article-title":"Impaired Mitophagy of Nucleated Erythroid Cells Leads to Anemia in Patients with Myelodysplastic Syndromes","volume":"2018","author":"Jiang","year":"2018","journal-title":"Oxid. Med. Cell. Longev."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1186\/s12967-022-03354-2","article-title":"Dysfunctional Bone Marrow Endothelial Progenitor Cells Are Involved in Patients with Myelodysplastic Syndromes","volume":"20","author":"Xing","year":"2022","journal-title":"J. Transl. Med."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1038\/s41375-018-0204-z","article-title":"Uncoupling of CD71 Shedding with Mitochondrial Clearance in Reticulocytes in a Subset of Myelodysplastic Syndromes","volume":"33","author":"Zhang","year":"2019","journal-title":"Leukemia"},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.stem.2012.05.013","article-title":"Bone Marrow Failure in Fanconi Anemia Is Triggered by an Exacerbated P53\/P21 DNA Damage Response That Impairs Hematopoietic Stem and Progenitor Cells","volume":"11","author":"Ceccaldi","year":"2012","journal-title":"Cell Stem Cell"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1182\/blood-2013-09-427740","article-title":"Why Does the Bone Marrow Fail in Fanconi Anemia?","volume":"123","author":"Garaycoechea","year":"2014","journal-title":"Blood"},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1038\/nature11863","article-title":"Fanconi Anaemia and the Repair of Watson and Crick DNA Crosslinks","volume":"493","author":"Kottemann","year":"2013","journal-title":"Nature"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1016\/j.cell.2016.04.006","article-title":"Fanconi Anemia Proteins Function in Mitophagy and Immunity","volume":"165","author":"Sumpter","year":"2016","journal-title":"Cell"},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"166453","DOI":"10.1016\/j.bbadis.2022.166453","article-title":"FANCL Supports Parkin-Mediated Mitophagy in a Ubiquitin Ligase-Independent Manner","volume":"1868","author":"Beesetti","year":"2022","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1083\/jcb.200607061","article-title":"Defective Mitochondrial Peroxiredoxin-3 Results in Sensitivity to Oxidative Stress in Fanconi Anemia","volume":"175","author":"Mukhopadhyay","year":"2006","journal-title":"J. Cell Biol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1182\/blood.2019000947","article-title":"Diamond-Blackfan Anemia","volume":"136","author":"Leblanc","year":"2020","journal-title":"Blood"},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"3196","DOI":"10.1182\/blood-2009-10-178129","article-title":"Ribosomopathies: Human Disorders of Ribosome Dysfunction","volume":"115","author":"Narla","year":"2010","journal-title":"Blood"},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1242\/dmm.020529","article-title":"Ribosomopathies: How a Common Root Can Cause a Tree of Pathologies","volume":"8","author":"Danilova","year":"2015","journal-title":"Dis. Model. Mech."},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41375-023-02101-w","article-title":"Perspectives of Current Understanding and Therapeutics of Diamond-Blackfan Anemia","volume":"38","author":"Liu","year":"2024","journal-title":"Leukemia"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"eaah5645","DOI":"10.1126\/scitranslmed.aah5645","article-title":"Drug Discovery for Diamond-Blackfan Anemia Using Reprogrammed Hematopoietic Progenitors","volume":"9","author":"Doulatov","year":"2017","journal-title":"Sci. Transl. Med."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1182\/blood-2018-08-815951","article-title":"The Molecular Genetics of Sideroblastic Anemia","volume":"133","author":"Ducamp","year":"2019","journal-title":"Blood"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1128\/MCB.06166-11","article-title":"Autophagy Driven by a Master Regulator of Hematopoiesis","volume":"32","author":"Kang","year":"2012","journal-title":"Mol. Cell. Biol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.exphem.2022.11.007","article-title":"Heme-Dependent Induction of Mitophagy Program during Differentiation of Murine Erythroid Cells","volume":"118","author":"Ikeda","year":"2023","journal-title":"Exp. Hematol."},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.1182\/blood-2022-163073","article-title":"Altered Transcription by GATA1 Impairs Autophagy and Prevents Ferroptosis in X-Linked Sideroblastic Anemia","volume":"140","author":"Ono","year":"2022","journal-title":"Blood"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"9024","DOI":"10.1038\/s41598-022-12940-9","article-title":"Congenital Sideroblastic Anemia Model Due to ALAS2 Mutation Is Susceptible to Ferroptosis","volume":"12","author":"Ono","year":"2022","journal-title":"Sci. Rep."},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"1601","DOI":"10.1172\/JCI114881","article-title":"Pearson\u2019s Marrow-Pancreas Syndrome. A Multisystem Mitochondrial Disorder in Infancy","volume":"86","author":"Cormier","year":"1990","journal-title":"J. Clin. Investig."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1111\/j.1365-2141.1995.tb05178.x","article-title":"Pearson\u2019s Marrow\/Pancreas Syndrome: Haematological Features Associated with Deletion and Duplication of Mitochondrial DNA","volume":"90","author":"Smith","year":"1995","journal-title":"Br. J. Haematol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1186\/s13023-022-02538-9","article-title":"Pearson Syndrome: A Multisystem Mitochondrial Disease with Bone Marrow Failure","volume":"17","author":"Yoshimi","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1600-0609.2006.00674.x","article-title":"Different Pathophysiological Mechanisms of Intramitochondrial Iron Accumulation in Acquired and Congenital Sideroblastic Anemia Caused by Mitochondrial DNA Deletion","volume":"77","author":"Matthes","year":"2006","journal-title":"Eur. J. Haematol."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"6494","DOI":"10.1038\/ncomms7494","article-title":"MtDNA Mutagenesis Impairs Elimination of Mitochondria during Erythroid Maturation Leading to Enhanced Erythrocyte Destruction","volume":"6","author":"Ahlqvist","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1016\/j.hoc.2014.04.008","article-title":"Sideroblastic Anemia: Diagnosis and Management","volume":"28","author":"Bottomley","year":"2014","journal-title":"Hematol. Oncol. Clin. N. Am."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1182\/asheducation-2011.1.525","article-title":"Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation","volume":"2011","author":"Fleming","year":"2011","journal-title":"Hematol. Am. Soc. Hematol. Educ. Program."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.freeradbiomed.2006.09.014","article-title":"Mitochondrial DNA Deletions Inhibit Proteasomal Activity and Stimulate an Autophagic Transcript","volume":"42","author":"Alemi","year":"2007","journal-title":"Free Radic. Biol. Med."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"101276","DOI":"10.1016\/j.beha.2021.101276","article-title":"Immunologic Effects on the Haematopoietic Stem Cell in Marrow Failure","volume":"34","author":"Patel","year":"2021","journal-title":"Best Pract. Res. Clin. Haematol."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"101275","DOI":"10.1016\/j.beha.2021.101275","article-title":"Distinguishing Constitutional from Acquired Bone Marrow Failure in the Hematology Clinic","volume":"34","author":"Groarke","year":"2021","journal-title":"Best Pract. Res. Clin. Haematol."},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1053\/j.seminhematol.2021.12.002","article-title":"Aplastic Anemia: Pathophysiology","volume":"59","author":"Giudice","year":"2022","journal-title":"Semin. Hematol."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"3699","DOI":"10.1182\/blood-2014-01-549527","article-title":"IFN-\u03b3 Causes Aplastic Anemia by Altering Hematopoietic Stem\/Progenitor Cell Composition and Disrupting Lineage Differentiation","volume":"124","author":"Lin","year":"2014","journal-title":"Blood"},{"key":"ref_130","doi-asserted-by":"crossref","unstructured":"Serio, B., Giudice, V., and Selleri, C. (2023). All Roads Lead to Interferon-\u03b3: From Known to Untraveled Pathways in Acquired Aplastic Anemia. Medicina, 59.","DOI":"10.3390\/medicina59122170"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1182\/blood.2020008966","article-title":"Single-Cell Transcriptomics Dissects Hematopoietic Cell Destruction and T-Cell Engagement in Aplastic Anemia","volume":"138","author":"Zhu","year":"2021","journal-title":"Blood"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/nature21388","article-title":"Autophagy Maintains the Metabolism and Function of Young and Old Stem Cells","volume":"543","author":"Ho","year":"2017","journal-title":"Nature"},{"key":"ref_133","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1046\/j.1365-2141.2001.02736.x","article-title":"Decreased Expression of Transcription Factor GATA-2 in Haematopoietic Stem Cells in Patients with Aplastic Anaemia","volume":"113","author":"Fujimaki","year":"2001","journal-title":"Br. J. Haematol."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1182\/blood-2003-02-0490","article-title":"Gene Expression Profiling in CD34 Cells to Identify Differences between Aplastic Anemia Patients and Healthy Volunteers","volume":"103","author":"Zeng","year":"2004","journal-title":"Blood"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1056\/NEJMoa2117175","article-title":"Biologic and Clinical Efficacy of LentiGlobin for Sickle Cell Disease","volume":"386","author":"Kanter","year":"2022","journal-title":"N. Engl. J. Med."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1479","DOI":"10.1056\/NEJMoa1705342","article-title":"Gene Therapy in Patients with Transfusion-Dependent \u03b2-Thalassemia","volume":"378","author":"Thompson","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1548","DOI":"10.1182\/blood-2016-10-745711","article-title":"Sickle Cell Disease: An International Survey of Results of HLA-Identical Sibling Hematopoietic Stem Cell Transplantation","volume":"129","author":"Gluckman","year":"2017","journal-title":"Blood"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1016\/j.bbmt.2018.03.031","article-title":"Haploidentical Peripheral Blood Stem Cell Transplantation Demonstrates Stable Engraftment in Adults with Sickle Cell Disease","volume":"24","author":"Saraf","year":"2018","journal-title":"Biol. Blood Marrow Transplant."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"1023","DOI":"10.1002\/ajh.27295","article-title":"Favorable Outcome of Non-Myeloablative Allogeneic Transplantation in Adult Patients with Severe Sickle Cell Disease: A Single Center Experience of 200 Patients","volume":"99","author":"Damlaj","year":"2024","journal-title":"Am. J. Hematol."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"100009","DOI":"10.1016\/j.bglo.2025.100009","article-title":"Global Blood and Marrow Transplantation Training for International Physicians from LMICs: 5-Year Experience at UIC","volume":"1","author":"Rivera","year":"2025","journal-title":"Blood Glob. Hematol."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1002\/ajh.26316","article-title":"2021 Update on Clinical Trials in \u03b2-Thalassemia","volume":"96","author":"Musallam","year":"2021","journal-title":"Am. J. Hematol."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1182\/blood-2012-10-408021","article-title":"Clinical Experience with Fetal Hemoglobin Induction Therapy in Patients with \u03b2-Thalassemia","volume":"121","author":"Musallam","year":"2013","journal-title":"Blood"},{"key":"ref_143","unstructured":"Angelucci, E., Porter, J., Cappellini, M.D., Farmakis, D., and Taher, A. (2023). Haematopoietic Stem Cell Transplantation for Thalassaemia. 2021 Guidelines: For the Management of Transfusion Dependent Thalassaemia (TDT), Thalassaemia International Federation."},{"key":"ref_144","unstructured":"Taher, A., Kulozik, A., Porter, J., Cappellini, M.D., and Farmakis, D. (2023). Gene Therapy for Thalassaemia. 2021 Guidelines: For the Management of Transfusion Dependent Thalassaemia (TDT), Thalassaemia International Federation."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"225","DOI":"10.3109\/03630269.2015.1036882","article-title":"Efficacy of Rapamycin as Inducer of Hb F in Primary Erythroid Cultures from Sickle Cell Disease and \u03b2-Thalassemia Patients","volume":"39","author":"Pecoraro","year":"2015","journal-title":"Hemoglobin"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"5140","DOI":"10.1182\/blood-2010-04-278226","article-title":"Fancd2\u2212\/\u2212 Mice Have Hematopoietic Defects That Can Be Partially Corrected by Resveratrol","volume":"116","author":"Zhang","year":"2010","journal-title":"Blood"},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/nchembio883","article-title":"Small Molecules Enhance Autophagy and Reduce Toxicity in Huntington\u2019s Disease Models","volume":"3","author":"Sarkar","year":"2007","journal-title":"Nat. Chem. Biol."},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1182\/blood.2023022004","article-title":"Mitochondrial tRNA Pseudouridylation Governs Erythropoiesis","volume":"144","author":"Wang","year":"2024","journal-title":"Blood"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.bcp.2018.04.007","article-title":"Autophagy as a Pharmacological Target in Hematopoiesis and Hematological Disorders","volume":"152","author":"Orsini","year":"2018","journal-title":"Biochem. Pharmacol."},{"key":"ref_150","doi-asserted-by":"crossref","unstructured":"Tsekoura, G., Agathangelidis, A., Kontandreopoulou, C.-N., Fasouli, E.S., Katsantoni, E., Pliaka, V., Alexopoulos, L., Katana, E., Papaioannou, M., and Taktikou, G. (2025). Restoration of Autophagy and Apoptosis in Myelodysplastic Syndromes: The Effect of Azacitidine in Disease Pathogenesis. Curr. Issues Mol. Biol., 47.","DOI":"10.3390\/cimb47070520"},{"key":"ref_151","doi-asserted-by":"crossref","unstructured":"Gambari, R., and Finotti, A. (2024). Therapeutic Relevance of Inducing Autophagy in \u03b2-Thalassemia. Cells, 13.","DOI":"10.3390\/cells13110918"},{"key":"ref_152","doi-asserted-by":"crossref","unstructured":"Huang, J., Ge, M., Lu, S., Shi, J., Yu, W., Li, X., Wang, M., Zhang, J., Feng, S., and Dong, S. (2016). Impaired Autophagy in Adult Bone Marrow CD34+ Cells of Patients with Aplastic Anemia: Possible Pathogenic Significance. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0149586"},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1146\/annurev-immunol-020711-075024","article-title":"Regulation of Immune Responses by mTOR","volume":"30","author":"Powell","year":"2012","journal-title":"Annu. Rev. Immunol."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.4049\/jimmunol.178.4.2163","article-title":"A Role for Mammalian Target of Rapamycin in Regulating T Cell Activation versus Anergy","volume":"178","author":"Zheng","year":"2007","journal-title":"J. Immunol."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.4161\/auto.7.9.15886","article-title":"Lack of Autophagy in the Hematopoietic System Leads to Loss of Hematopoietic Stem Cell Function and Dysregulated Myeloid Proliferation","volume":"7","author":"Mortensen","year":"2011","journal-title":"Autophagy"},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1016\/j.stem.2015.11.001","article-title":"The Dlk1-Gtl2 Locus Preserves LT-HSC Function by Inhibiting the PI3K-mTOR Pathway to Restrict Mitochondrial Metabolism","volume":"18","author":"Qian","year":"2016","journal-title":"Cell Stem Cell"},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.stem.2012.06.009","article-title":"mTOR Complex 1 Plays Critical Roles in Hematopoiesis and Pten-Loss-Evoked Leukemogenesis","volume":"11","author":"Kalaitzidis","year":"2012","journal-title":"Cell Stem Cell"},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1038\/ncb3527","article-title":"Regulation of Mitochondrial Biogenesis in Erythropoiesis by mTORC1-Mediated Protein Translation","volume":"19","author":"Liu","year":"2017","journal-title":"Nat. Cell Biol."},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"e01913","DOI":"10.7554\/eLife.01913","article-title":"A Critical Role for mTORC1 in Erythropoiesis and Anemia","volume":"3","author":"Knight","year":"2014","journal-title":"eLife"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1016\/j.cell.2012.03.017","article-title":"mTOR Signaling in Growth Control and Disease","volume":"149","author":"Laplante","year":"2012","journal-title":"Cell"},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"50820","DOI":"10.18632\/oncotarget.10970","article-title":"Novel Functions of Fanconi Anemia Proteins in Selective Autophagy and Inflammation","volume":"7","author":"Sumpter","year":"2016","journal-title":"Oncotarget"},{"key":"ref_162","doi-asserted-by":"crossref","unstructured":"Choi, Y., and Park, S. (2026). Autophagy-Mitophagy Pathway-Linked Genetic Variants Associate with Systemic Inflammation and Interact with Dietary Factors in Asian and European Cohorts. Int. J. Mol. Sci., 27.","DOI":"10.3390\/ijms27073062"},{"key":"ref_163","doi-asserted-by":"crossref","unstructured":"Yang, H., Li, X., Wang, K., Zou, Y., Shi, Q., Yang, Y., Zhao, Q., and Zou, W. (2026). Autophagy: From Molecular Mechanisms to Disease Regulation and Therapeutic Strategies. Curr. Issues Mol. Biol., 48.","DOI":"10.3390\/cimb48030285"},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"dev152595","DOI":"10.1242\/dev.152595","article-title":"mTOR Signaling in Stem and Progenitor Cells","volume":"145","author":"Meng","year":"2018","journal-title":"Development"},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"561404","DOI":"10.1155\/2015\/561404","article-title":"Differential Reponses of Hematopoietic Stem and Progenitor Cells to mTOR Inhibition","volume":"2015","author":"Yang","year":"2015","journal-title":"Stem Cells Int."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/19\/8467\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T11:12:31Z","timestamp":1790248351000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/27\/19\/8467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,23]]},"references-count":165,"journal-issue":{"issue":"19","published-online":{"date-parts":[[2026,10]]}},"alternative-id":["ijms27198467"],"URL":"https:\/\/doi.org\/10.3390\/ijms27198467","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,23]]}}}