Literature DB >> 3378452

The human liver-type pyruvate kinase (PKL) gene is on chromosome 1 at band q21.

H Satoh1, K Tani, M C Yoshida, M Sasaki, S Miwa, H Fujii.   

Abstract

Pyruvate kinase (PK) is an important enzyme for ATP production in the glycolytic pathway. Deficiency of this enzyme in erythrocytes is characterized by hemolytic anemia. Using in situ hybridization, we have mapped the human liver-type pyruvate kinase gene (PKL) to band q21 of chromosome 1.

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Year:  1988        PMID： 3378452     DOI： 10.1159/000132530

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


  6 in total

1.  Path to facilitate the prediction of functional amino acid substitutions in red blood cell disorders--a computational approach.

Authors:  Rajith B; George Priya Doss C
Journal:  PLoS One       Date:  2011-09-13       Impact factor: 3.240

2.  2-Oxo-N-aryl-1,2,3,4-tetrahydroquinoline-6-sulfonamides as activators of the tumor cell specific M2 isoform of pyruvate kinase.

Authors:  Martin J Walsh; Kyle R Brimacombe; Henrike Veith; James M Bougie; Thomas Daniel; William Leister; Lewis C Cantley; William J Israelsen; Matthew G Vander Heiden; Min Shen; Douglas S Auld; Craig J Thomas; Matthew B Boxer
Journal:  Bioorg Med Chem Lett       Date:  2011-09-14       Impact factor: 2.823

3.  Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes.

Authors:  D Glenn; T Gelbart; E Beutler
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132

4.  Chromosomal assignment of seven genes on canine chromosomes by fluorescence in situ hybridization.

Authors:  M L Guevara-Fujita; R Loechel; P J Venta; V Yuzbasiyan-Gurkan; G J Brewer
Journal:  Mamm Genome       Date:  1996-04       Impact factor: 2.957

5.  Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo; Bertil Glader; Hitoshi Kanno; Archana Agarwal; Wilma Barcellini; Stefan Eber; James D Hoyer; David J Kuter; Tabita Magalhães Maia; Maria Del Mar Mañu-Pereira; Theodosia A Kalfa; Serge Pissard; José-Carlos Segovia; Eduard van Beers; Patrick G Gallagher; David C Rees; Richard van Wijk
Journal:  Am J Hematol       Date:  2018-11-28       Impact factor: 10.047

6.  Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo; Kimberly Lezon-Geyda; Eduard J van Beers; Holmes D Morton; Wilma Barcellini; Bertil Glader; Satheesh Chonat; Yaddanapudi Ravindranath; Peter E Newburger; Nina Kollmar; Jenny M Despotovic; Madeleine Verhovsek; Mukta Sharma; Janet L Kwiatkowski; Kevin H M Kuo; Marcin W Wlodarski; Hassan M Yaish; Susanne Holzhauer; Heng Wang; Joachim Kunz; Kathryn Addonizio; Hasan Al-Sayegh; Wendy B London; Oliver Andres; Richard van Wijk; Patrick G Gallagher; Rachael F F Grace
Journal:  Am J Hematol       Date:  2020-03-06       Impact factor: 10.047
  6 in total

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