Literature DB >> 25342667

Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient.

Gang Liu1, Shanshan Guo1, Gregory J Anderson2, Clara Camaschella3, Bing Han4, Guangjun Nie1.   

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Year:  2014        PMID： 25342667     DOI： 10.1182/blood-2014-08-598508

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  16 in total

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Journal:  J Inherit Metab Dis       Date:  2016-09-01       Impact factor: 4.982

Review 2.  Outlining the Complex Pathway of Mammalian Fe-S Cluster Biogenesis.

Authors:  Nunziata Maio; Tracey A Rouault
Journal:  Trends Biochem Sci       Date:  2020-03-06       Impact factor: 13.807

Review 3.  Mitochondrial Iron in Human Health and Disease.

Authors:  Diane M Ward; Suzanne M Cloonan
Journal:  Annu Rev Physiol       Date:  2018-11-28       Impact factor: 19.318

4.  Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Authors:  Klaus Schmitz-Abe; Szymon J Ciesielski; Paul J Schmidt; Dean R Campagna; Fedik Rahimov; Brenda A Schilke; Marloes Cuijpers; Klaus Rieneck; Birgitte Lausen; Michael L Linenberger; Anoop K Sendamarai; Chaoshe Guo; Inga Hofmann; Peter E Newburger; Dana Matthews; Akiko Shimamura; Pieter J L M Snijders; Meghan C Towne; Charlotte M Niemeyer; Henry G Watson; Morten H Dziegiel; Matthew M Heeney; Alison May; Sylvia S Bottomley; Dorine W Swinkels; Kyriacos Markianos; Elizabeth A Craig; Mark D Fleming
Journal:  Blood       Date:  2015-10-21       Impact factor: 22.113

Review 5.  Roles of Fe-S proteins: from cofactor synthesis to iron homeostasis to protein synthesis.

Authors:  Debkumar Pain; Andrew Dancis
Journal:  Curr Opin Genet Dev       Date:  2016-04-07       Impact factor: 5.578

6.  Assembly of the [4Fe-4S] cluster of NFU1 requires the coordinated donation of two [2Fe-2S] clusters from the scaffold proteins, ISCU2 and ISCA1.

Authors:  Anshika Jain; Anamika Singh; Nunziata Maio; Tracey A Rouault
Journal:  Hum Mol Genet       Date:  2020-11-25       Impact factor: 6.150

Review 7.  Iron-sulfur cluster biosynthesis and trafficking - impact on human disease conditions.

Authors:  C Wachnowsky; I Fidai; J A Cowan
Journal:  Metallomics       Date:  2018-01-24       Impact factor: 4.526

8.  Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Authors:  Wei-Xing Feng; Xiu-Wei Zhuo; Zhi-Mei Liu; Jiu-Wei Li; Wei-Hua Zhang; Yun Wu; Tong-Li Han; Fang Fang
Journal:  Front Genet       Date:  2021-05-13       Impact factor: 4.599

Review 9.  The molecular genetics of sideroblastic anemia.

Authors:  Sarah Ducamp; Mark D Fleming
Journal:  Blood       Date:  2018-11-06       Impact factor: 25.476

Review 10.  Iron-sulfur cluster biogenesis, trafficking, and signaling: Roles for CGFS glutaredoxins and BolA proteins.

Authors:  Evan A Talib; Caryn E Outten
Journal:  Biochim Biophys Acta Mol Cell Res       Date:  2020-09-07       Impact factor: 4.739
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