Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia (Q40433933)

20 September 2017

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title

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia (English)

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20 September 2017

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S. S. Bottomley

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7592563

31 May 2024

B. K. May

2

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31 May 2024

T. C. Cox

3

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31 May 2024

P. D. Cotter

4

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31 May 2024

D. F. Bishop

5

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31 May 2024

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7592563

31 May 2024

publication date

1 April 1995

1 reference

full work available at URL

20 September 2017

http://link.springer.com/content/pdf/10.1007/BF02110031.pdf

1 reference

http://link.springer.com/article/10.1007/BF02110031/fulltext.html

31 May 2024

1 reference

http://link.springer.com/content/pdf/10.1007/BF02110031

31 May 2024

1 reference

Journal of Bioenergetics and Biomembranes

31 May 2024

published in

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20 September 2017

volume

27

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20 September 2017

issue

2

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20 September 2017

page(s)

161-168

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Erythroid expression of the heme-regulated eIF-2 alpha kinase

20 September 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02110031

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

21 January 2018

1 reference

12 December 2020

Pyridoxine-refractory congenital sideroblastic anaemia with evidence for autosomal inheritance: exclusion of linkage to ALAS2 at Xp11.21 by polymorphism analysis

1 reference

12 December 2020

Identification of regulatory sequences in the gene for 5-aminolevulinate synthase from rat.

1 reference

12 December 2020

Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis

1 reference

12 December 2020

Heme biosynthesis in mammalian systems: evidence of a Schiff base linkage between the pyridoxal 5'-phosphate cofactor and a lysine residue in 5-aminolevulinate synthase

1 reference

12 December 2020

Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing

1 reference

12 December 2020

Human delta-aminolevulinate synthase: assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

1 reference

12 December 2020

Modification of enzymatically amplified DNA for the detection of point mutations.

1 reference

12 December 2020

Molecular Regulation of Heme Biosynthesis in Higher Vertebrates

1 reference

12 December 2020

Regulating the fate of mRNA: the control of cellular iron metabolism

1 reference

12 December 2020

Structure of a mouse erythroid 5-aminolevulinate synthase gene and mapping of erythroid-specific DNAse I hypersensitive sites

1 reference

12 December 2020

Erythroid 5-aminolaevulinate synthase activity during normal and iron deficient erythropoiesis

1 reference

12 December 2020

Regulation of 5-aminolevulinate synthase mRNA in different rat tissues

1 reference

12 December 2020

Two different genes encode delta-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes

1 reference

12 December 2020

Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular basis of base substitution hotspots in Escherichia coli

1 reference

12 December 2020

Measurement of delta-aminolevulinic acid synthetase activity in human erythroblasts

1 reference

12 December 2020

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

1 reference

12 December 2020

Evidence for erythroid and nonerythroid forms of δ-aminolevulinate synthetase

1 reference

12 December 2020

The putative iron-responsive element in the human erythroid 5-aminolevulinate synthase mRNA mediates translational control.

1 reference

12 December 2020

Iron overload in mild sideroblastic anaemias

1 reference

12 December 2020

5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia

1 reference

12 December 2020

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

1 reference

12 December 2020

Assignment of the human housekeeping δ-aminolevulinate synthase gene (ALAS1) to chromosome band 3p21.1 by PCR analysis of somatic cell hybrids

1 reference

12 December 2020

Expression of delta-aminolevulinate synthase in avian cells: separate genes encode erythroid-specific and nonspecific isozymes

1 reference

12 December 2020

Erythroid 5-aminolevulinate synthase is located on the X chromosome

1 reference

12 December 2020

Pathophysiology of heme synthesis

1 reference

12 December 2020

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

1 reference

12 December 2020

delta-Aminolevulinic acid synthetase in erythroblasts of patients with pyridoxine-responsive anemia. Hypercatabolism caused by the increased susceptibility to the controlling protease

1 reference

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

Sideroblastic anemia: death from iron overload

1 reference

12 December 2020

PYRIDOXINE-RESPONSIVE ANEMIA: ANALYSIS OF 62 CASES

1 reference

12 December 2020

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

1 reference

12 December 2020

An immunochemical study of delta-aminolevulinate synthase and delta-aminolevulinate dehydratase in liver and erythroid cells of rat.

1 reference

12 December 2020

Complete nucleotide sequence of hepatic 5-aminolaevulinate synthase precursor

1 reference

12 December 2020

Heme synthesis in pyridoxine-responsive anemia

1 reference

12 December 2020

Haem Synthesis in Sideroblastic Anaemia

1 reference

12 December 2020

Molecular Biology and Medicine

41

7

405

B. K. May

1990

1 reference

31 May 2024

Identifiers

DOI

10.1007/BF02110031

1 reference

20 September 2017

1 reference