A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction
A novel Y243S mutation in the pyruvate dehydrogenase E1 alpha gene subunit: Correlation with thiamine pyrophosphate interaction
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DOI：
10.1023/a:1016570828778
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发表时间：
2002-06-01
影响因子：
4.2
通讯作者：
Dey, R
中科院分区：
文献类型：
--
作者：
Benelli, C;Fouque, F;Dey, R
我们在一例丙酮酸脱氢酶复合物（PDHc）缺乏症患者的X连锁E1 α-PDH基因中发现了一个新的Y243 S突变。即使在高浓度的焦磷酸硫胺素（TPP）存在下，培养的成纤维细胞中的活性也非常低，表明该缺陷可能是由于PDHc对TPP的亲和力降低。
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.