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
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
Unstable reaction intermediates and hysteresis during the catalytic cycle of 5-aminolevulinate synthase: implications from using pseudo and alternate substrates and a promiscuous enzyme variant.
Stojanovski BM et al.
The Journal of Biological Chemistry, 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
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
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
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
X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.
Cotter PD et al.
Blood, 1994
Clinical and biochemical genetics of the lipidoses.
Kolodny EH
Seminars in Hematology, 1972
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