Associated Papers
Myelodysplastic neoplasms with ring sideroblasts without SF3B1 mutations in adults: enrichment of germline variants in congenital sideroblastic anemia genes.
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Leukemia, 2025
40335618 (PubMed )
Supplement: 41375_2025_2629_MOESM1_ESM.pdf
The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.
Jové-Solavera D et al.
Scientific Reports, 2025
40195342 (PubMed )
Supplement: 41598_2025_95590_MOESM1_ESM.pdf
Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.
Ducamp S et al.
Blood, 2024
Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
Ono K et al.
Scientific Reports, 2022
Structural basis for dysregulation of aminolevulinic acid synthase in human disease.
Taylor JL et al.
The Journal of Biological Chemistry, 2022
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
Bailey HJ et al.
Nature Communications, 2020
32499479 (PubMed )
Supplement: 41467_2020_16586_MOESM1_ESM.docx
A novel hemizygous I418S mutation in the ALAS2 gene in a young Korean man with X-linked sideroblastic anemia.
Moon SY et al.
Annals of Laboratory Medicine, 2014
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
Balwani M et al.
Molecular Medicine (cambridge, Mass.), 2013
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).
Ducamp S et al.
Human Molecular Genetics, 2013
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S et al.
Human Mutation, 2011
The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.
May A et al.
Haematologica, 1998
Clinical and biochemical genetics of the lipidoses.
Kolodny EH
Seminars in Hematology, 1972
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