Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.

Waters PJ; Parniak MA; Akerman BR; Jones AO; Scriver CR

首页> 外文期刊>Journal of inherited metabolic disease >Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.

【24h】

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.

机译：苯丙氨酸羟化酶基因（PAH）中的错义突变会导致PAH酶的蛋白水解更新加速：这是苯丙酮酸尿症的潜在机制。

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《Journal of inherited metabolic disease》 |1999年第3期|共5页
作者
Waters PJ; Parniak MA; Akerman BR; Jones AO; Scriver CR;
展开▼
作者单位

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类内分泌腺疾病及代谢病;
关键词
Mutation; Missense; Phenylalanine Hydroxylase; Phenylketonuria; 突变; 误义; 苯丙氨酸羟化酶; 苯丙酮尿症;

机译：Mutation;Missense;Phenylalanine Hydroxylase;Phenylketonuria;突变;误义;苯丙氨酸羟化酶;苯丙酮尿症;

相似文献

外文文献
中文文献
专利

1. Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria. [J] . Waters PJ, Parniak MA, Akerman BR, Journal of inherited metabolic disease . 1999,第3期

机译：苯丙氨酸羟化酶基因（PAH）中的错义突变会导致PAH酶的蛋白水解更新加速：这是苯丙酮酸尿症的潜在机制。
2. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria. [J] . Acosta AX, Silva WA, Carvalho TM, Human mutation . 2001,第1期

机译：在巴西苯丙酮尿症患者中观察到苯丙氨酸羟化酶基因（PAH）的十个新突变。
3. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria. [J] . Acosta A, Silva W Jr, Carvalho T, Human mutation . 2001,第2期

机译：巴西苯丙酮尿症患者的苯丙氨酸羟化酶（PAH）基因突变。
4. Mutation of Domain III and Domain VI in L Gene Conserved Domain of Nipah Virus [C] . Siti Aishah Jalani, Nazlina Ibrahim UKM FST Postgraduate Colloquium . 2016

机译：NIPAH病毒L基因保守结构域的结构域III和域VI的突变
5. Mutations within the second coordination sphere of catalytic iron (II) in human phenylalanine hydroxylase (hPAH) that affect the environment and electronic geometry of iron (II) are implicated in its mechanism, substrate binding and specificity. [D] . Daoud Kinzie, Sylvia Munir. 2005

机译：人类苯丙氨酸羟化酶（hPAH）中催化铁（II）的第二个配位域内的突变会影响铁（II）的环境和电子几何结构，其机制，底物结合和特异性都与它有关。
6. Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria. [O] . K H Choo, R G Cotton, D M Danks, 1979

机译：哺乳动物苯丙氨酸羟化酶系统的遗传学。人类肝脏苯丙氨酸羟化酶亚基结构和苯丙酮尿症突变研究。
7. Genetics of the mammalian phenylalanine hydroxylase system. Studies of human liver phenylalanine hydroxylase subunit structure and of mutations in phenylketonuria. [O] . Choo, K H, Cotton, R G, Danks, D M, 1979

机译：哺乳动物苯丙氨酸羟化酶系统的遗传学。人类肝脏苯丙氨酸羟化酶亚基结构和苯丙酮尿症突变研究。
8. Genetic Background and Environment Influence the Effects of Mutations in pykF and Help Reveal Mechanisms Underlying Their Benefit. [R] . Peng, F. 2015

机译：遗传背景和环境影响pykF突变的影响，并有助于揭示其利益的机制。

Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.

著录项

相似文献

相关主题

期刊订阅