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
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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Late-onset X-linked sideroblastic anemia following hemodialysis.
Furuyama K et al.
Blood, 2003
A novel mutation in exon 5 of the ALAS2 gene results in X-linked sideroblastic anemia.
Hurford MT et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2002
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