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
Structural basis for dysregulation of aminolevulinic acid synthase in human disease.
Taylor JL et al.
The Journal of Biological Chemistry, 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
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis.
Burkhalter MD et al.
The Journal of Clinical Investigation, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.
Chami N et al.
American Journal of Human Genetics, 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
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: 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
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
HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening.
Barton JC et al.
Genetic Testing, 2007
Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.
Lee PL et al.
Blood Cells, Molecules & Diseases, 0