丙酮酸激酶
小基因
丙酮酸激酶缺乏
四聚体
RNA剪接
基因
突变
复合杂合度
溶血性贫血
遗传学
无义突变
胡说
生物
分子生物学
化学
酶
生物化学
错义突变
糖酵解
免疫学
核糖核酸
作者
Karolina Maciak,Aneta Jurkiewicz,Wojciech Strojny,Anna Adamowicz-Salach,Magdalena Romiszewska,Teresa Jackowska,Kinga Kwiecińska,Jarosław Poznański,Monika Góra,Beata Burzyńska
标识
DOI:10.1016/j.bcmd.2024.102841
摘要
Pyruvate kinase (PK) deficiency is a rare autosomal recessive disorder characterized by chronic hemolytic anemia of variable severity. Nine Polish patients with severe hemolytic anemia but normal PK activity were found to carry mutations in the PKLR gene encoding PK, five already known ones and one novel (c.178C > T). We characterized two of the known variants by molecular modeling (c.1058delAAG) and minigene splicing analysis (c.101-1G > A). The former gives a partially destabilized PK tetramer, likely of suboptimal activity, and the c.101-1G > A variant gives alternatively spliced mRNA carrying a premature stop codon, encoding a severely truncated PK and likely undergoing nonsense-mediated decay.
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