Ineffective erythropoiesis and its treatment

M Cazzola - Blood, The Journal of the American Society of …, 2022 - ashpublications.org
The erythroid marrow and circulating red blood cells (RBCs) are the key components of the
human erythron. Abnormalities of the erythron that are responsible for anemia can be …

New avenues of heme synthesis regulation

AE Medlock, HA Dailey - International Journal of Molecular Sciences, 2022 - mdpi.com
During erythropoiesis, there is an enormous demand for the synthesis of the essential
cofactor of hemoglobin, heme. Heme is synthesized de novo via an eight enzyme-catalyzed …

Hem25p is required for mitochondrial IPP transport in fungi

J Tai, RM Guerra, SW Rogers, Z Fang… - Nature cell …, 2023 - nature.com
Coenzyme Q (CoQ, ubiquinone) is an essential cellular cofactor composed of a redox-active
quinone head group and a long hydrophobic polyisoprene tail. How mitochondria access …

Regulation of heme synthesis by mitochondrial homeostasis proteins

YY Yien, M Perfetto - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
Heme plays a central role in diverse, life-essential processes that range from ubiquitous,
housekeeping pathways such as respiration, to highly cell-specific ones such as oxygen …

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine

S Ducamp, AK Sendamarai, DR Campagna, DWL Chin… - Blood, 2024 - ashpublications.org
X-linked sideroblastic anemia (XLSA) and X-linked protoporphyria (XLPP) are uncommon
diseases caused by loss-of-function and gain-of-function mutations, respectively, in the …

Iron metabolism in the disorders of heme biosynthesis

A Ricci, G Di Betto, E Bergamini, E Buzzetti, E Corradini… - Metabolites, 2022 - mdpi.com
Given its remarkable property to easily switch between different oxidative states, iron is
essential in countless cellular functions which involve redox reactions. At the same time …

Machine learning and single-cell RNA sequencing reveal relationship between intratumor CD8+ T cells and uveal melanoma metastasis

S Chen, Z Tang, Q Wan, W Huang, X Li, X Huang… - Cancer Cell …, 2024 - Springer
Purpose Uveal melanoma (UM) is adults' most common primary intraocular malignant tumor.
It has been observed that 40% of patients experience distant metastasis during subsequent …

[HTML][HTML] Hem25p is a mitochondrial IPP transporter

J Tai, RM Guerra, SW Rogers, Z Fang, LK Muehlbauer… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Coenzyme Q (CoQ, ubiquinone) is an essential cellular cofactor comprised of a redox-active
quinone head group and a long hydrophobic polyisoprene tail. How mitochondria access …

[HTML][HTML] P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model

A Santoro, S De Santis, F Palmieri, A Vozza… - International Journal of …, 2024 - mdpi.com
Mutations in the SLC25A38 gene are responsible for the second most common form of
congenital sideroblastic anemia (CSA), a severe condition for which no effective treatment …

The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review

I Pelagiadis, I Kyriakidis, N Katzilakis, C Kosmeri… - Children, 2023 - mdpi.com
Diamond–Blackfan anemia (DBA) is a ribosomopathy characterized by bone marrow
erythroid hypoplasia, which typically presents with severe anemia within the first months of …