Literature DB >> 29139060

Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.

Kazumichi Furuyama1, Kiriko Kaneko2.   

Abstract

Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient's bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however, the relationship between the function of the gene products and ring sideroblasts is largely unclear. In this review article, we will focus on the iron metabolism in erythroid cells as well as in patients with congenital sideroblastic anemia.

Entities:  

Keywords:  Congenital sideroblastic anemia; Heme; Iron–sulfur cluster; Ring sideroblasts

Mesh：

Substances：

Year:  2017        PMID： 29139060     DOI： 10.1007/s12185-017-2368-0

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


  112 in total

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Journal:  EMBO J       Date:  2000-06-01       Impact factor: 11.598

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

Authors:  P D Cotter; M Baumann; D F Bishop
Journal:  Proc Natl Acad Sci U S A       Date:  1992-05-01       Impact factor: 11.205

3.  Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.

Authors:  G Aizencang; C Solis; D F Bishop; C Warner; R J Desnick
Journal:  Genomics       Date:  2000-12-01       Impact factor: 5.736

4.  A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.

Authors:  Junya Nakajima; Tuba F Eminoglu; Goksel Vatansever; Mitsuko Nakashima; Yoshinori Tsurusaki; Hirotomo Saitsu; Hisashi Kawashima; Naomichi Matsumoto; Noriko Miyake
Journal:  J Hum Genet       Date:  2014-01-16       Impact factor: 3.172

Review 5.  Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.

Authors:  Hong Ye; Tracey A Rouault
Journal:  Biochemistry       Date:  2010-06-22       Impact factor: 3.162

6.  Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations.

Authors:  Anke K Bergmann; Dean R Campagna; Erin M McLoughlin; Suneet Agarwal; Mark D Fleming; Sylvia S Bottomley; Ellis J Neufeld
Journal:  Pediatr Blood Cancer       Date:  2010-02       Impact factor: 3.167

7.  Growth differentiation factor 15 production is necessary for normal erythroid differentiation and is increased in refractory anaemia with ring-sideroblasts.

Authors:  Jean-Marie Ramirez; Olivier Schaad; Stephane Durual; Dominique Cossali; Mylène Docquier; Photis Beris; Patrick Descombes; Thomas Matthes
Journal:  Br J Haematol       Date:  2008-11-19       Impact factor: 6.998

8.  A cytosolic iron chaperone that delivers iron to ferritin.

Authors:  Haifeng Shi; Krisztina Z Bencze; Timothy L Stemmler; Caroline C Philpott
Journal:  Science       Date:  2008-05-30       Impact factor: 47.728

9.  X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.

Authors:  Dean R Campagna; Charlotte I de Bie; Klaus Schmitz-Abe; Marion Sweeney; Anoop K Sendamarai; Paul J Schmidt; Matthew M Heeney; Helger G Yntema; Caroline Kannengiesser; Bernard Grandchamp; Charlotte M Niemeyer; Nine V A M Knoers; Sonia Swart; Gordon Marron; Richard van Wijk; Reinier A Raymakers; Alison May; Kyriacos Markianos; Sylvia S Bottomley; Dorine W Swinkels; Mark D Fleming
Journal:  Am J Hematol       Date:  2013-11-20       Impact factor: 10.047

10.  Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).

Authors:  Rie Ohba; Kazumichi Furuyama; Kenichi Yoshida; Tohru Fujiwara; Noriko Fukuhara; Yasushi Onishi; Atsushi Manabe; Etsuro Ito; Keiya Ozawa; Seiji Kojima; Seishi Ogawa; Hideo Harigae
Journal:  Ann Hematol       Date:  2012-09-16       Impact factor: 3.673
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  5 in total

1.  Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation.

Authors:  Kei Saito; Tohru Fujiwara; Shunsuke Hatta; Masanobu Morita; Koya Ono; Chie Suzuki; Noriko Fukuhara; Yasushi Onishi; Yukio Nakamura; Shin Kawamata; Ritsuko Shimizu; Masayuki Yamamoto; Hideo Harigae
Journal:  Mol Cell Biol       Date:  2019-03-19       Impact factor: 4.272

2.  Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program.

Authors:  Yao Hu; Adrienne M Stilp; Caitlin P McHugh; Shuquan Rao; Deepti Jain; Xiuwen Zheng; John Lane; Sébastian Méric de Bellefon; Laura M Raffield; Ming-Huei Chen; Lisa R Yanek; Marsha Wheeler; Yao Yao; Chunyan Ren; Jai Broome; Jee-Young Moon; Paul S de Vries; Brian D Hobbs; Quan Sun; Praveen Surendran; Jennifer A Brody; Thomas W Blackwell; Hélène Choquet; Kathleen Ryan; Ravindranath Duggirala; Nancy Heard-Costa; Zhe Wang; Nathalie Chami; Michael H Preuss; Nancy Min; Lynette Ekunwe; Leslie A Lange; Mary Cushman; Nauder Faraday; Joanne E Curran; Laura Almasy; Kousik Kundu; Albert V Smith; Stacey Gabriel; Jerome I Rotter; Myriam Fornage; Donald M Lloyd-Jones; Ramachandran S Vasan; Nicholas L Smith; Kari E North; Eric Boerwinkle; Lewis C Becker; Joshua P Lewis; Goncalo R Abecasis; Lifang Hou; Jeffrey R O'Connell; Alanna C Morrison; Terri H Beaty; Robert Kaplan; Adolfo Correa; John Blangero; Eric Jorgenson; Bruce M Psaty; Charles Kooperberg; Russell T Walton; Benjamin P Kleinstiver; Hua Tang; Ruth J F Loos; Nicole Soranzo; Adam S Butterworth; Debbie Nickerson; Stephen S Rich; Braxton D Mitchell; Andrew D Johnson; Paul L Auer; Yun Li; Rasika A Mathias; Guillaume Lettre; Nathan Pankratz; Cathy C Laurie; Cecelia A Laurie; Daniel E Bauer; Matthew P Conomos; Alexander P Reiner
Journal:  Am J Hum Genet       Date:  2021-04-21       Impact factor: 11.025

3.  Identification of Frataxin as a regulator of ferroptosis.

Authors:  Jing Du; Yi Zhou; Yanchun Li; Jun Xia; Yongjian Chen; Sufeng Chen; Xin Wang; Weidong Sun; Tongtong Wang; Xueying Ren; Xu Wang; Yihan An; Kang Lu; Wanye Hu; Siyuan Huang; Jianghui Li; Xiangmin Tong; Ying Wang
Journal:  Redox Biol       Date:  2020-03-02       Impact factor: 11.799

4.  A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.

Authors:  Jinbo Huang; Meili Ge; Yingqi Shao; Min Wang; Peng Jin; Jiali Huo; Xingxin Li; Jing Zhang; Neng Nie; Yizhou Zheng
Journal:  BMC Med Genomics       Date:  2021-04-15       Impact factor: 3.063

5.  Sideroblastic anaemia in a patient with sickle cell disease.

Authors:  Nikitha Vobugari; Mansi Chaturvedi; Ilana Miriam Schlam-Camhi; Hedy Patricia Smith
Journal:  BMJ Case Rep       Date:  2022-02-08
  5 in total

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