Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.
Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.
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DOI：
10.3390/ijms17122069
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发表时间：
2016-12-09
影响因子：
5.6
通讯作者：
Arreguin-Espinosa R
中科院分区：
文献类型：
--
作者：
Gómez-Manzo S;Marcial-Quino J;Vanoye-Carlo A;Serrano-Posada H;Ortega-Cuellar D;González-Valdez A;Castillo-Rodríguez RA;Hernández-Ochoa B;Sierra-Palacios E;Rodríguez-Bustamante E;Arreguin-Espinosa R
6-磷酸葡萄糖脱氢酶 (G6PD) 是磷酸戊糖途径中的关键调节酶，可产生烟酰胺腺嘌呤二核苷酸磷酸 (NADPH) 以维持细胞内充足的还原环境，在红细胞 (RBC) 中尤其重要。鉴于其在氧化还原状态调节中的核心作用，可以理解的是，编码 G6PD 的基因突变会导致蛋白质活性缺陷，从而导致新生儿黄疸和急性溶血性贫血等临床表现。最近，发表了一篇关于 g6pd 基因变异的广泛综述；识别186个突变。在这项工作中，我们回顾了 G6PD 缺乏症的最新研究进展，描述了 g6pd 基因中的 217 个突变；我们还汇编了 31 种新突变的信息，其中 16 种尚未识别，另外 15 种是最近报道的。为了更好地了解 g6pd 基因中新描述的突变的影响，我们在已解决的人类 G6PD 蛋白三维结构中定位了点突变。我们发现 I 类突变对蛋白质的结构和稳定性具有最有害的影响。
Glucose-6-phosphate dehydrogenase (G6PD) is a key regulatory enzyme in the pentose phosphate pathway which produces nicotinamide adenine dinucleotide phosphate (NADPH) to maintain an adequate reducing environment in the cells and is especially important in red blood cells (RBC). Given its central role in the regulation of redox state, it is understandable that mutations in the gene encoding G6PD can cause deficiency of the protein activity leading to clinical manifestations such as neonatal jaundice and acute hemolytic anemia. Recently, an extensive review has been published about variants in the g6pd gene; recognizing 186 mutations. In this work, we review the state of the art in G6PD deficiency, describing 217 mutations in the g6pd gene; we also compile information about 31 new mutations, 16 that were not recognized and 15 more that have recently been reported. In order to get a better picture of the effects of new described mutations in g6pd gene, we locate the point mutations in the solved three-dimensional structure of the human G6PD protein. We found that class I mutations have the most deleterious effects on the structure and stability of the protein.
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影响因子：
4.4
作者：
FILOSA, S;CALABRO, V;MARTINI, G
通讯作者：
MARTINI, G
影响因子：
--
作者：
Bendaoud, B.;Hosni, I.;Abbes, S.
通讯作者：
Abbes, S.
影响因子：
6.5
作者：
FILOSA, S;CALABRO, V;BATTISTUZZI, G
通讯作者：
BATTISTUZZI, G
影响因子：
5.6
作者：
Gómez-Manzo S;Terrón-Hernández J;De la Mora-De la Mora I;González-Valdez A;Marcial-Quino J;García-Torres I;Vanoye-Carlo A;López-Velázquez G;Hernández-Alcántara G;Oria-Hernández J;Reyes-Vivas H;Enríquez-Flores S
通讯作者：
Enríquez-Flores S
影响因子：
4.4
作者：
CHEN, EY;CHENG, A;DURSO, M
通讯作者：
DURSO, M