用非同位素一步法测定人细胞中磷酸核糖焦磷酸合成酶的活性 - Suppr

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超能文献

Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method.

作者信息

Torres R J, Mateos F A, Puig J G, Becker M A

机构信息

Clinical Biochemistry Section, La Paz University Hospital, Madrid, Spain.

出版信息

Clin Chim Acta. 1996 Feb 9;245(1):105-12. doi: 10.1016/0009-8981(95)06178-9.

DOI:10.1016/0009-8981(95)06178-9

PMID:8646809

Abstract

摘要

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Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method.用非同位素一步法测定人细胞中磷酸核糖焦磷酸合成酶的活性

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引用本文的文献

Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.1例磷酸核糖焦磷酸合成酶1缺乏症患者的临床和遗传特征及系统文献综述

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Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.PRPS1 基因的功能丧失突变导致一种非综合征性 X 连锁感觉神经性耳聋，DFN2。

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The phosphatidylinositol 3-kinase/akt cassette regulates purine nucleotide synthesis.磷脂酰肌醇3激酶/蛋白激酶B信号转导通路调控嘌呤核苷酸的合成。

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Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).PRPS1基因发生突变，该基因编码对核苷酸生物合成至关重要的磷酸核糖焦磷酸合成酶，会导致伴有听力丧失和视神经病变的遗传性周围神经病（CMTX5）。

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Arts syndrome is caused by loss-of-function mutations in PRPS1.阿茨综合征由PRPS1基因的功能丧失性突变引起。

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