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
40195342 (PubMed )
Supplement: 41598_2025_95590_MOESM1_ESM.pdf
Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.
Dongerdiye R et al.
Annals of Hematology, 2024
A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.
Huang J et al.
Bmc Medical Genomics, 2021
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
32499479 (PubMed )
Supplement: 41467_2020_16586_MOESM1_ESM.docx
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.
Méndez M et al.
Molecular Genetics & Genomic Medicine, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
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
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
Clinical and biochemical genetics of the lipidoses.
Kolodny EH
Seminars in Hematology, 1972
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