Literature DB >> 1770778

Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.

L J de Meirleir1, W Lissens, E Vamos, I Liebaers.   

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Year:  1991        PMID： 1770778     DOI： 10.1007/bf01811687

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


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  10 in total

1.  Characterisation of a cDNA for porcine PDH-E1 alpha and comparison with the human cDNA.

Authors:  K Sermon; L De Meirleir; I Elpers; W Lissens; I Liebaers
Journal:  Nucleic Acids Res       Date:  1990-08-25       Impact factor: 16.971

2.  Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift.

Authors:  H Endo; K Hasegawa; K Narisawa; K Tada; Y Kagawa; S Ohta
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

3.  Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex.

Authors:  L De Meirleir; N MacKay; A M Lam Hon Wah; B H Robinson
Journal:  J Biol Chem       Date:  1988-02-05       Impact factor: 5.157

4.  Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction.

Authors:  P Chomczynski; N Sacchi
Journal:  Anal Biochem       Date:  1987-04       Impact factor: 3.365

5.  X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.

Authors:  R M Brown; H H Dahl; G K Brown
Journal:  Genomics       Date:  1989-02       Impact factor: 5.736

6.  The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.

Authors:  H H Dahl; S M Hunt; W M Hutchison; G K Brown
Journal:  J Biol Chem       Date:  1987-05-25       Impact factor: 5.157

7.  Sites of phosphorylation on pyruvate dehydrogenase from bovine kidney and heart.

Authors:  S J Yeaman; E T Hutcheson; T E Roche; F H Pettit; J R Brown; L J Reed; D C Watson; G H Dixon
Journal:  Biochemistry       Date:  1978-06-13       Impact factor: 3.162

8.  Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase.

Authors:  K Koike; S Ohta; Y Urata; Y Kagawa; M Koike
Journal:  Proc Natl Acad Sci U S A       Date:  1988-01       Impact factor: 11.205

9.  Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit.

Authors:  L Ho; I D Wexler; T C Liu; T J Thekkumkara; M S Patel
Journal:  Proc Natl Acad Sci U S A       Date:  1989-07       Impact factor: 11.205

10.  Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.

Authors:  C Maragos; W M Hutchison; K Hayasaka; G K Brown; H H Dahl
Journal:  J Biol Chem       Date:  1989-07-25       Impact factor: 5.157
  10 in total
  6 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

Review 3.  Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Authors:  H H Dahl
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

Review 4.  Pyruvate dehydrogenase E1 alpha deficiency.

Authors:  G K Brown
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

5.  Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.

Authors:  M Ito; A H Huq; E Naito; T Saijo; E Takeda; Y Kuroda
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

6.  Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Authors:  K Chun; N MacKay; R Petrova-Benedict; A Federico; A Fois; D E Cole; E Robertson; B H Robinson
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
  6 in total

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