X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.

X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.

Item
http://www.wikidata.org/entity/Q42694834
Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemiaC-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overloadGlycine and Folate Ameliorate Models of Congenital Sideroblastic AnemiaIron control of erythroid development by a novel aconitase-associated regulatory pathway.The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism.X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.Deregulation of genes related to iron and mitochondrial metabolism in refractory anemia with ring sideroblastsLate-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.Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyriaUnusual clinical expression and long survival of a pseudouridylate synthase (PUS1) mutation into adulthoodSideroblastic anemia: functional study of two novel missense mutations in ALAS2Purification and characterization of sideroblasts from patients with acquired and hereditary sideroblastic anaemia.Abcb10 role in heme biosynthesis in vivo: Abcb10 knockout in mice causes anemia with protoporphyrin IX and iron accumulation.Mitochondria and Iron: current questions.
P2860

X-linked sideroblastic anemia: identification of the mutation in the erythroid-specific delta-aminolevulinate synthase gene (ALAS2) in the original family described by Cooley.

Item
http://www.wikidata.org/entity/Q42694834
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
X-linked sideroblastic anemia: ...... al family described by Cooley.
@en
X-linked sideroblastic anemia: ...... -aminolevulinate synthase gene
@nl
type
label
X-linked sideroblastic anemia: ...... al family described by Cooley.
@en
X-linked sideroblastic anemia: ...... -aminolevulinate synthase gene
@nl
prefLabel
X-linked sideroblastic anemia: ...... al family described by Cooley.
@en
X-linked sideroblastic anemia: ...... -aminolevulinate synthase gene
@nl
P1433
P1476
P2093
P304
P31
P407
P433
P478
P577
P698
P1433
P1476
X-linked sideroblastic anemia: ...... al family described by Cooley.
@en
P2093
P304
P31
P407
P433
P478
P577
P698