GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia-Reference-Cited by-同舟云学术

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia

Published:2019-11 Issue:3 Volume:128 Page:342-351
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Daher Raêd,Mansouri Abdellah,Martelli Alain,Bayart Sophie,Manceau Hana,Callebaut Isabelle,Moulouel Boualem,Gouya Laurent,Puy Hervé,Kannengiesser Caroline,Karim Zoubida

Funder

Agence Nationale de la Recherche

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference40 articles.

1. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations;Bergmann;Pediatr. Blood Cancer,2010

2. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing;Cazzola;Hematol. Am. Soc. Hematol. Educ. Program.,2015

3. Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia;Cazzola;Blood,2003

4. Recent advances in the understanding of inherited sideroblastic anaemia;Camaschella;Br. J. Haematol.,2008

5. C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload;Whatley;Am. J. Hum. Genet.,2008

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