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
Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.
Morimoto Y et al.
Blood Advances, 2022
X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.
Nzelu D et al.
Bmc Medical Genomics, 2021
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release.
Bailey HJ et al.
Nature Communications, 2020
Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.
Fouquet C et al.
British Journal of Haematology, 2019
Missense variants in ALAS2 gene in five patients.
Moreno-Carralero MI et al.
International Journal of Laboratory Hematology, 2019
Structure of the Mitochondrial Aminolevulinic Acid Synthase, a Key Heme Biosynthetic Enzyme.
Brown BL et al.
Structure (london, England : 1993), 2018
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review.
Fujiwara T et al.
Annals of Hematology, 2017
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.
Le Rouzic MA et al.
Blood Cells, Molecules & Diseases, 2017
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia.
Katsurada T et al.
International Journal of Hematology, 2016
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
Hereditary sideroblastic anemia: pathophysiology and gene mutations.
Harigae H et al.
International Journal of Hematology, 2010
Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.
Astner I et al.
The Embo Journal, 2005
5-Aminolevulinic acid synthase: mechanism, mutations and medicine.
Shoolingin-Jordan PM et al.
Biochimica Et Biophysica Acta, 2003
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