Autophagy Defects and Mitochondrial Retention in Erythroid Diseases
- 1Laboratorio de Biología Celular y Molecular, Instituto de Histología y Embriología (IHEM), Universidad Nacional de Cuyo, CONICET, Mendoza M5502, Argentina; (J.J.); (S.C.P.); (B.N.S.)
- 2Université Paris Cité, INSERM, EFS, BIGR U1134, team PAMS, 75015 Paris, France; (C.D.); (A.D.); (G.N.); (S.D.L.)
Abstract
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-particularly ULK1-, NIX-, and PINK1-dependent mitophagy-plays 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-Blackfan anemia, sickle cell disease, and β-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.
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BibTeX
@article{fader2026autophagy,
title = {{Autophagy Defects and Mitochondrial Retention in Erythroid Diseases}},
author = {Claudio M. Fader and Julieta Jacob and Santiago Castro Perez and Cécile Deleschaux and Alice Dussouchaud and Gaël Nicolas and Betiana N. Salassa and Sophie D. Lefevre and Mariano A. Ostuni},
journal = {International journal of molecular sciences},
year = {2026},
month = sep,
doi = {10.3390/ijms27198467},
url = {https://europepmc.org/article/PMC/PMC13665088},
note = {CC BY},
}
RIS
TY - JOUR
TI - Autophagy Defects and Mitochondrial Retention in Erythroid Diseases
AU - Claudio M. Fader
AU - Julieta Jacob
AU - Santiago Castro Perez
AU - Cécile Deleschaux
AU - Alice Dussouchaud
AU - Gaël Nicolas
AU - Betiana N. Salassa
AU - Sophie D. Lefevre
AU - Mariano A. Ostuni
PY - 2026
DA - 2026/09/23
JO - International journal of molecular sciences
DO - 10.3390/ijms27198467
UR - https://europepmc.org/article/PMC/PMC13665088
AB - 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-particularly ULK1-, NIX-, and PINK1-dependent mitophagy-plays 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-Blackfan anemia, sickle cell disease, and β-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.
SN - 1422-0067
SN - 1661-6596
ER -