Associated Papers
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
Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.
Ducamp S et al.
Blood, 2024
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.
Sharma P et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling.
Alnoor F et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis.
Ono K et al.
Scientific Reports, 2022
Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.
Li J et al.
International Journal of Laboratory Hematology, 2020
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
Bailey HJ et al.
Nature Communications, 2020
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
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
Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).
Ohba R et al.
Annals of Hematology, 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
Hereditary sideroblastic anemia: pathophysiology and gene mutations.
Harigae H et al.
International Journal of Hematology, 2010
Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.
Bergmann AK et al.
Pediatric Blood & Cancer, 2010
A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
Harigae H et al.
American Journal of Hematology, 1999
[An infant case of sideroblastic anemia that responded to oral pyridoxine].
Kudo K et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 1999
A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia.
Harigae H et al.
British Journal of Haematology, 1999
Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis.
Cotter PD et al.
Blood, 1999
R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity.
Furuyama K et al.
British Journal of Haematology, 1998
The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.
May A et al.
Haematologica, 1998
Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia.
Bottomley SS et al.
Journal of Bioenergetics and Biomembranes, 1995
Clinical and biochemical genetics of the lipidoses.
Kolodny EH
Seminars in Hematology, 1972