两名弗里德赖希共济失调患者中硫辛酰胺脱氢酶结构异常的动力学证据。
Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia.
作者信息
Rodriguez-Budelli M, Kark P
出版信息
Neurology. 1978 Dec;28(12):1283-6. doi: 10.1212/wnl.28.12.1283.
PMID:569787
Abstract
Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). The enzymes from the patients' platelets differed significantly from controls in activity, in KM for lipoamide, and in KM for NADH. The data are consistent with a structural mutation of the gene coding for LAD.
摘要
两名患有弗里德赖希共济失调的非亲缘关系患者，其硫辛酰胺脱氢酶（LAD）的活性存在缺陷。这两名患者血小板中的该酶在活性、对硫辛酰胺的米氏常数（KM）以及对烟酰胺腺嘌呤二核苷酸（NADH）的米氏常数方面，与对照组有显著差异。这些数据与编码LAD的基因突变相符。
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