Literature DB >> 12227466

A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction.

C Benelli1, F Fouque, I Redonnet-Vernhet, M Malgat, D Fontan, C Marsac, R Dey.   

Abstract

We identified a new Y243S mutation in the X-linked E1 alpha-PDH gene in a patient with pyruvate dehydrogenase complex (PDHc) deficiency. The activity in cultured fibroblasts was very low even in the presence of high thiamine pyrophosphate (TPP) concentrations, indicating that the defect could be due to decreased affinity of PDHc for TPP.

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Year:  2002        PMID： 12227466     DOI： 10.1023/a:1016570828778

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  4 in total

1.  Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency.

Authors:  C Marsac; C Benelli; I Desguerre; M Diry; F Fouque; L De Meirleir; G Ponsot; S Seneca; F Poggi; J M Saudubray; M T Zabot; D Fontan; W Lissens
Journal:  Hum Genet       Date:  1997-06       Impact factor: 4.132

Review 2.  Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Authors:  W Lissens; L De Meirleir; S Seneca; I Liebaers; G K Brown; R M Brown; M Ito; E Naito; Y Kuroda; D S Kerr; I D Wexler; M S Patel; B H Robinson; A Seyda
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

3.  Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.

Authors:  P M Matthews; R M Brown; L J Otero; D R Marchington; M LeGris; R Howes; L S Meadows; M Shevell; C R Scriver; G K Brown
Journal:  Brain       Date:  1994-06       Impact factor: 13.501

Review 4.  Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.

Authors:  H H Dahl; G K Brown; R M Brown; L L Hansen; D S Kerr; I D Wexler; M S Patel; L De Meirleir; W Lissens; K Chun
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878
  4 in total
  4 in total

Review 1.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

2.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797

3.  Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment.

Authors:  Sanne van Dongen; Ruth M Brown; Garry K Brown; David R Thorburn; Avihu Boneh
Journal:  JIMD Rep       Date:  2014-04-10

4.  A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.

Authors:  Eun-Ha Lee; Mi-Sun Ahn; Jin-Soon Hwang; Kyung-Hwa Ryu; Sun-Jun Kim; Sung-Hwan Kim
Journal:  J Korean Med Sci       Date:  2006-10       Impact factor: 2.153
  4 in total

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