Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia (Q22253368)

Succinate-CoA ligase ADP-forming subunit beta

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

succinyl-CoA pathway

1 reference

Journal of Clinical Investigation

GOA release 2020-03-11

2

S Sassa

S

Sassa

1 reference

7 February 2023

K Furuyama

1

K

Furuyama

1 reference

7 February 2023

language of work or name

English

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publication date

March 2000

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published in

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volume

105

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issue

6

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page(s)

757-64

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cites work

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Distinct physiological roles of animal succinate thiokinases. Association of guanine nucleotide-linked succinate thiokinase with ketone body utilization

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Delta-Aminolevulinic acid synthase from chick embryo liver mitochondria. II. Immunochemical correlation between synthesis and activity in induction and repression

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Deficient heme and globin synthesis in embryonic stem cells lacking the erythroid-specific delta-aminolevulinate synthase gene

19 March 2017

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19 March 2017

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Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene

19 March 2017

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Regulation by heme of mitochondrial protein transport through a conserved amino acid motif

27 September 2017

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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

27 September 2017

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5-Aminolevulinate synthase is at 3p21 and thus not the primary defect in X-linked sideroblastic anemia

27 September 2017

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Erythroid 5-aminolevulinate synthase is located on the X chromosome

27 September 2017

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Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X; autosome translocations

27 September 2017

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Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency

27 September 2017

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The role of heme in gene expression

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Tissue-specific regulation of iron metabolism and heme synthesis: distinct control mechanisms in erythroid cells.

27 September 2017

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Effect of endogenous heme generation on delta-aminolevulinic acid synthase activity in rat liver mitochondria

27 September 2017

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27 September 2017

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

30 May 2018

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Translocation of delta-aminolevulinate synthase from the cytosol to the mitochondria and its regulation by hemin in the rat liver

30 May 2018

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Evidence for the transcriptional inhibition by heme of the synthesis of delta-aminolevulinate synthase in rat liver

30 May 2018

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Translational inhibition by heme of the synthesis of hepatic delta-aminolevulinate synthase in a cell-free system

30 May 2018

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Erythroleukemia differentiation. Distinctive responses of the erythroid-specific and the nonspecific delta-aminolevulinate synthase mRNA.

30 May 2018

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The purification and properties of uroporphyrinogen I synthases and uroporphyrinogen III cosynthase. Interactions between the enzymes

30 May 2018

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X-linked sideroblastic anaemia due to a mutation in the erythroid 5-aminolaevulinate synthase gene leading to an arginine170 to leucine substitution.

30 May 2018

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Translational control of 5-aminolevulinate synthase mRNA by iron-responsive elements in erythroid cells

29 November 2018

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R411C mutation of the ALAS2 gene encodes a pyridoxine-responsive enzyme with low activity

29 November 2018

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12 December 2020

Apparent ATP-linked succinate thiokinase activity and its relation to nucleoside diphosphate kinase in mitochondrial matrix preparations from rabbit

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12 December 2020

X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase

1 reference

12 December 2020

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia

1 reference

12 December 2020

Identification of an arginine452 to histidine substitution in the erythroid 5-aminolaevulinate synthetase gene in a large pedigree with X-linked hereditary sideroblastic anaemia

1 reference

12 December 2020

Transcriptional regulation of the human erythroid 5-aminolevulinate synthase gene. Identification of promoter elements and role of regulatory proteins

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12 December 2020

Hereditary sideroblastic anaemia due to a mutation in exon 10 of the erythroid 5-aminolaevulinate synthase gene

1 reference

12 December 2020