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
[From persistent "hypoxemia" to the diagnosis of an hemoglobinopathy].
García Rosolen N et al.
Medicina, 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
Diagnostic yield of targeted next-generation sequencing for pediatric hereditary hemolytic anemia.
Choi YJ et al.
Bmc Medical Genomics, 2023
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
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
Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing.
Yu HJ et al.
Annals of Laboratory Medicine, 2018
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
X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).
Bishop DF et al.
The Journal of Biological Chemistry, 2012
Sideroblastic anemia, iron overload, and ALAS2 R452S in African-American males: phenotype and genotype features of five unrelated patients.
Lee PL et al.
American Journal of Hematology, 2011
Need for early recognition and therapeutic guidelines of congenital sideroblastic anaemia.
Cuijpers MLH et al.
International Journal of Hematology, 2011
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
New mutation in erythroid-specific delta-aminolevulinate synthase as the cause of X-linked sideroblastic anemia responsive to pyridoxine.
Kucerova J et al.
Acta Haematologica, 2011
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
Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G.
Sussman NL et al.
Acta Haematologica, 2008
Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.
Furuyama K et al.
European Journal of Haematology, 2006
The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.
May A et al.
Haematologica, 1998
Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia.
Edgar AJ et al.
European Journal of Haematology, 1997
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
Disparate phenotypic expression of ALAS2 R452H (nt 1407 G --> A) in two brothers, one with severe sideroblastic anemia and iron overload, hepatic cirrhosis, and hepatocellular carcinoma.
Barton JC et al.
Blood Cells, Molecules & Diseases, 0
[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].
Kawakami T et al.
[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 0