Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency
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Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemiaSpliceosomal gene mutations in myelodysplasia: molecular links to clonal abnormalities of hematopoiesisErythroid heme biosynthesis and its disordersRefractory anemia with ring sideroblasts and RARS with thrombocytosisGaucher disease: transcriptome analyses using microarray or mRNA sequencing in a Gba1 mutant mouse model treated with velaglucerase alfa or imigluceraseConcomitant a novel ALAS2 mutation and GATA1 mutation in a newborn: a case report and review of the literature.Abnormal haem biosynthesis in the chronic anaemia of rheumatoid arthritisPyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis.Linkage analysis of a large pedigree with hereditary sideroblastic anaemiaSLC25 Family Member Genetic Interactions Identify a Role for HEM25 in Yeast Electron Transport Chain Stability.Mitochondrial disorders of the nuclear genomeSideroblastic anaemias.X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing.Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.Expression of the Rhodobacter sphaeroides hemA and hemT genes, encoding two 5-aminolevulinic acid synthase isozymes.X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).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 ofSideroblastic anemia: functional study of two novel missense mutations in ALAS2Mammalian iron metabolism and its control by iron regulatory proteinsSF3B1 mutations are prevalent in myelodysplastic syndromes with ring sideroblasts but do not hold independent prognostic valueThe power plant of the cell is also a smithy: the emerging role of mitochondria in cellular iron homeostasis.Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.Zebrafish erythropoiesis and the utility of fish as models of anemia.Biochemical and computational approaches to improve the clinical treatment of dopa decarboxylase-related diseases: an overviewHeme and erythropoieis: more than a structural role.Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis (RARS-T): 2017 update on diagnosis, risk-stratification, and management.Splicing factor mutations in MDS RARS and MDS/MPN-RS-T.Molecular genetics of disorders of haem biosynthesisBiphasic ordered induction of heme synthesis in differentiating murine erythroleukemia cells: role of erythroid 5-aminolevulinate synthase.Pathogenetic Aspects of Myelodysplastic Syndromes.Iron and copper in mitochondrial diseases.Trichothiodystrophy with sideroblastic anaemia and developmental delay.Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.Microcytic anemia in a pregnant woman: beyond iron deficiency.Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.
P2860
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P2860
Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on May 1992
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Enzymatic defect in "X-linked" ...... levulinate synthase deficiency
@en
Enzymatic defect in "X-linked" ...... evulinate synthase deficiency.
@nl
type
label
Enzymatic defect in "X-linked" ...... levulinate synthase deficiency
@en
Enzymatic defect in "X-linked" ...... evulinate synthase deficiency.
@nl
prefLabel
Enzymatic defect in "X-linked" ...... levulinate synthase deficiency
@en
Enzymatic defect in "X-linked" ...... evulinate synthase deficiency.
@nl
P2093
P2860
P356
P1476
Enzymatic defect in "X-linked" ...... levulinate synthase deficiency
@en
P2093
P2860
P304
P356
10.1073/PNAS.89.9.4028
P407
P577
1992-05-01T00:00:00Z