1997
DOI: 10.1093/hmg/6.8.1361
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Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene

Abstract: In a significant number of patients with biochemical evidence of a defect in the E1 (pyruvate dehydrogenase) component of the pyruvate dehydrogenase complex, it has not proved possible to identify a mutation in the gene coding regions. To assess the need for more extensive genetic analysis in these patients and to establish a test system in which to study the biochemical consequences of mutations in the E1alpha subunit gene (which is responsible for the great majority of defined cases of pyruvate dehydrogenase… Show more

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Cited by 21 publications
(27 citation statements)
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“…Immunocytochemical staining of the cells was performed with monoclonal antibodies to the E1α and E2 subunits of the PDH complex (Lib, et al, 2002). Clones of patient fibroblasts expressing either the normal or mutant X chromosome were isolated after transformation of the primary cultures as previously described (Brown, et al, 1997).…”
Section: Biochemical Characterisationmentioning
confidence: 99%
“…Immunocytochemical staining of the cells was performed with monoclonal antibodies to the E1α and E2 subunits of the PDH complex (Lib, et al, 2002). Clones of patient fibroblasts expressing either the normal or mutant X chromosome were isolated after transformation of the primary cultures as previously described (Brown, et al, 1997).…”
Section: Biochemical Characterisationmentioning
confidence: 99%
“…Primary fibroblasts were routinely transformed using a plasmid (T22) containing SV40 DNA sequences (provided by Dr. P.H.Gallimore, University of Birmingham) as described previously [Brown et al, 1997]. In females heterozygous for PDH E1α mutations, normal and deficient clones are obtained in proportion to the X-inactivation pattern in the primary culture [Brown et al, 1997].…”
Section: Transformation and Cloning Of Primary Fibroblast Culturesmentioning
confidence: 99%
“…In females heterozygous for PDH E1α mutations, normal and deficient clones are obtained in proportion to the X-inactivation pattern in the primary culture [Brown et al, 1997]. This provides a useful approach to the analysis of female patients with suspected PDH deficiency.…”
Section: Transformation and Cloning Of Primary Fibroblast Culturesmentioning
confidence: 99%
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