Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.
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氨酰-tRNA合成酶是确保蛋白质精确合成的酶。双功能细胞质人谷氨酰-脯氨酰-tRNA合成酶EPRS 1的变体与脑白质营养不良、糖尿病和骨病有关。在这里，我们报告复合杂合子变异EPRS 1在一个4岁的女性患者表现为精神发育迟缓，癫痫发作和耳聋。这两个错义突变的功能研究支持体外酶功能的主要缺陷，并有助于诊断的确认。我们报告复合杂合子变异的双功能氨酰-tRNA合成酶，EPRS 1，在一个4岁的女性患者出现精神发育迟缓，癫痫发作和耳聋。这两个错义突变的功能研究支持体外酶功能的主要缺陷，并有助于诊断的确认。
Aminoacyl-tRNA synthetases are enzymes that ensure accurate protein synthesis. Variants of the dual-functional cytoplasmic human glutamyl-prolyl-tRNA synthetase, EPRS1, have been associated with leukodystrophy, diabetes and bone disease. Here, we report compound heterozygous variants in EPRS1 in a 4-year-old female patient presenting with psychomotor developmental delay, seizures and deafness. Functional studies of these two missense mutations support major defects in enzymatic function in vitro and contributed to confirmation of the diagnosis. We report compound heterozygous variants in a bifunctional aminoacyl-tRNA synthetase, EPRS1, in a 4-year-old female patient presenting with psychomotor developmental delay, seizures and deafness. Functional studies of these two missense mutations support major defects in enzymatic function in vitro and contributed to confirmation of the diagnosis.
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影响因子：
7.7
作者：
Terrey M;Adamson SI;Chuang JH;Ackerman SL
通讯作者：
Ackerman SL
DOI：
10.1016/bs.enz.2020.06.009
发表时间：
2020-01-01
期刊：
BIOLOGY OF AMINOACYL-TRNA SYNTHETASES
影响因子：
--
作者：
Jiang, Lei;Jones, Julia;Yang, Xiang-Lei
通讯作者：
Yang, Xiang-Lei
DOI：
10.1126/science.1249749
发表时间：
2014-07-25
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Ishimura R;Nagy G;Dotu I;Zhou H;Yang XL;Schimmel P;Senju S;Nishimura Y;Chuang JH;Ackerman SL
通讯作者：
Ackerman SL
DOI：
10.1073/pnas.092152799
发表时间：
2002-04-30
影响因子：
11.1
作者：
Wolfson, AD;Uhlenbeck, OC
通讯作者：
Uhlenbeck, OC
影响因子：
4.8
作者：
Francklyn, Christopher S.;First, Eric A.;Hou, Ya-Ming
通讯作者：
Hou, Ya-Ming