Literature DB >> 16567715

Intronic mutation in the PGK1 gene may cause recurrent myoglobinuria by aberrant splicing.

Kentaro Shirakawa1, Yoshitomo Takahashi, Hiroaki Miyajima.   

Abstract

A 33-year-old man with mental retardation and recurrent myoglobinuria demonstrated a deficiency in the phosphoglycerate kinase 1 (PGK1) activity of his muscles and erythrocytes. His PGK1 gene had intronic G-to-A substitution 5 nucleotides downstream from the normal exon 7 5' splice site (IVS7 + 5 G>A). This novel mutation results in a frame shift due to the insertion of 52 bp of intron 7 in the mature mRNA by aberrant splicing.

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Year:  2006        PMID： 16567715     DOI： 10.1212/01.wnl.0000203500.63884.39

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  7 in total

1.  Levodopa Responsive Parkinsonism in Two Patients With Phosphoglycerate Kinase Deficiency.

Authors:  Tuhin Virmani; Michael Rotstein; Ronen Spiegel; Hasan O Akman; Salvatore DiMauro; Paul E Greene
Journal:  Mov Disord Clin Pract       Date:  2014-06-26

2.  A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.

Authors:  Shigeto Matsumaru; Hirokazu Oguni; Hiromi Ogura; Keiko Shimojima; Satoru Nagata; Hitoshi Kanno; Toshiyuki Yamamoto
Journal:  Intractable Rare Dis Res       Date:  2017-05

3.  Terazosin activates Pgk1 and Hsp90 to promote stress resistance.

Authors:  Xinping Chen; Chunyue Zhao; Xiaolong Li; Tao Wang; Yizhou Li; Cheng Cao; Yuehe Ding; Mengqiu Dong; Lorenzo Finci; Jia-Huai Wang; Xiaoyu Li; Lei Liu
Journal:  Nat Chem Biol       Date:  2014-11-10       Impact factor: 15.040

4.  Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy.

Authors:  Masato Tamai; Takeshi Kawano; Ryota Saito; Ken Sakurai; Yoshihiro Saito; Hisashi Yamada; Hiroyuki Ida; Masaharu Akiyama
Journal:  Int J Hematol       Date:  2014-06-17       Impact factor: 2.490

5.  Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

Authors:  Laurent R Chiarelli; Simone M Morera; Paola Bianchi; Elisa Fermo; Alberto Zanella; Alessandro Galizzi; Giovanna Valentini
Journal:  PLoS One       Date:  2012-02-14       Impact factor: 3.240

6.  Protein Stability, Folding and Misfolding in Human PGK1 Deficiency.

Authors:  Giovanna Valentini; Maristella Maggi; Angel L Pey
Journal:  Biomolecules       Date:  2013-12-18

7.  A Novel Missense Variant Associated with A Splicing Defect in A Myopathic Form of PGK1 Deficiency in The Spanish Population.

Authors:  Virginia Garcia-Solaesa; Pablo Serrano-Lorenzo; Maria Antonia Ramos-Arroyo; Alberto Blázquez; Inmaculada Pagola-Lorz; Mercè Artigas-López; Joaquín Arenas; Miguel A Martín; Ivonne Jericó-Pascual
Journal:  Genes (Basel)       Date:  2019-10-10       Impact factor: 4.096
  7 in total

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