Bresolin N, Miranda A, Chang H W, Shanske S, DiMauro S
Muscle Nerve. 1984 Sep;7(7):542-51. doi: 10.1002/mus.880070705.
A new phosphoglycerate kinase variant (PGK New Jersey) has been purified from muscle and cultured fibroblasts of a patient with recurrent myoglobinuria. The mutant enzyme had higher than normal affinity for adenosine triphosphate (ATP) and 3-phosphoglycerate, and a shift of the pH optimum towards the acidic side. Antibodies raised against PGK purified from normal muscle were used to evaluate the presence of immunologically cross-reacting enzyme protein in tissues from the patient. Immunodiffusion and an antibody consumption test showed the presence of reduced amounts of cross-reacting material in the patient's muscle. Several PGK variants have been characterized in asymptomatic individuals or in patients with hemolytic anemia. The biochemical features of PGK New Jersey, the only known variant associated with recurrent myoglobinuria, distinguish this mutant enzyme from others.
从一名复发性肌红蛋白尿患者的肌肉和培养的成纤维细胞中纯化出一种新的磷酸甘油酸激酶变体（PGK新泽西型）。该突变酶对三磷酸腺苷（ATP）和3-磷酸甘油酸的亲和力高于正常水平，且最适pH值向酸性侧偏移。用针对从正常肌肉中纯化的PGK产生的抗体来评估患者组织中免疫交叉反应性酶蛋白的存在情况。免疫扩散和抗体消耗试验表明患者肌肉中交叉反应物质的量减少。已在无症状个体或溶血性贫血患者中鉴定出几种PGK变体。PGK新泽西型是唯一已知与复发性肌红蛋白尿相关的变体，其生化特征使其与其他突变酶有所区别。
