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Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
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- Author(s): Otero LJ;Otero LJ; Brown RM; Brown GK
- Source:
Human mutation [Hum Mutat] 1998; Vol. 12 (2), pp. 114-21.
- Publication Type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
- Language:
English
- Additional Information
- Source:
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
- Publication Information:
Original Publication: New York : Wiley-Liss, c1992-
- Subject Terms:
- Abstract:
Three further patients with mutations in the codon for arginine 302 of the E1alpha subunit of the pyruvate dehydrogenase complex have been identified. Mutations in this codon have now been found in nine patients with pyruvate dehydrogenase deficiency in seven unrelated families, in sharp contrast to the great majority of other PDH E1alpha mutations which have been described in single individuals only. Because of the relatively high frequency of this mutation and because very few PDH E1alpha mutations have been demonstrated to be causative, we have established a system for analysing the consequences of defined mutations using transfection of normal and mutant PDH E1alpha cDNA into transformed human fibroblasts which have no endogenous E1alpha mRNA or protein. Using this test system, we have demonstrated that the R302C mutation results in the production of PDH E1alpha protein which is devoid of enzymic activity.
- Grant Information:
United Kingdom Wellcome Trust
- Accession Number:
0 (Pyruvate Dehydrogenase Complex)
94ZLA3W45F (Arginine)
EC 1.2.4.1 (Pyruvate Dehydrogenase (Lipoamide))
EC 1.2.4.1 (pyruvate dehydrogenase E1alpha subunit)
- Publication Date:
Date Created: 19980722 Date Completed: 19980917 Latest Revision: 20131121
- Publication Date:
20231215
- Accession Number:
10.1002/(SICI)1098-1004(1998)12:2<114::AID-HUMU6>3.0.CO;2-#
- Accession Number:
9671272
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