Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations (Q83394010)

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22 January 2020

title

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations (English)

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20

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author name string

Sarah Ducamp

1

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Caroline Kannengiesser

2

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Mohamed Touati

3

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Loïc Garçon

4

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Agnès Guerci-Bresler

5

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Jean François Guichard

6

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Christiane Vermylen

7

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Joaquim Dochir

8

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Hélène A Poirel

9

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Fanny Fouyssac

10

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Ludovic Mansuy

11

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Geneviève Leroux

12

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Gérard Tertian

13

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Robert Girot

14

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Hermann Heimpel

15

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Thomas Matthes

16

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Neila Talbi

17

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Jean-Charles Deybach

18

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Carole Beaumont

19

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Bernard Grandchamp

21

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publication date

24 February 2011

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volume

32

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issue

6

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page(s)

590-597

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X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns

22 January 2020

cites work

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7 January 2021

Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.

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7 January 2021

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia

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7 January 2021

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

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7 January 2021

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

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Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene

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7 January 2021

Recent advances in the understanding of inherited sideroblastic anaemia

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7 January 2021

Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment

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The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

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Severe X-linked chronic granulomatous disease in two unrelated females.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

ACP Best Practice No 165: front line tests for the investigation of suspected porphyria

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7 January 2021

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

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7 January 2021

The genetics of inherited sideroblastic anemias.

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7 January 2021

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

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7 January 2021

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity

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7 January 2021

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

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7 January 2021

Initial stages in the biosynthesis of porphyrins. 2. The formation of delta-aminolaevulic acid from glycine and succinyl-coenzyme A by particles from chicken erythrocytes

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7 January 2021

Amino acid difference formula to help explain protein evolution

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7 January 2021

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

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7 January 2021

Hereditary sideroblastic anemia: pathophysiology and gene mutations

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7 January 2021

A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia

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7 January 2021

A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia

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7 January 2021

Functional, structural, and genetic evaluation of 20 CDKN2A germ line mutations identified in melanoma-prone families or patients.

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7 January 2021

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.

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7 January 2021

Comparisons and modifications of the colorimetric assay for delta-aminolevulinic acid synthase

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7 January 2021

Heme deficiency in erythroid lineage causes differentiation arrest and cytoplasmic iron overload

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7 January 2021

SIFT: Predicting amino acid changes that affect protein function

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7 January 2021

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

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7 January 2021

RASMOL: biomolecular graphics for all

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7 January 2021

Enzymatic synthesis of sigma-aminolevulinic acid

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7 January 2021

Prediction of deleterious human alleles

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7 January 2021

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

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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

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7 January 2021

SNPs3D: candidate gene and SNP selection for association studies.

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21455

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22 January 2020

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