Mammalian Sulfatases: Biochemistry, Disease Manifestation, and Therapy.
Mammalian Sulfatases: Biochemistry, Disease Manifestation, and Therapy.
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DOI：
10.3390/ijms23158153
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发表时间：
2022-07-24
影响因子：
5.6
通讯作者：
中科院分区：
文献类型：
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作者：
硫酸酯酶是催化从生物物质中去除硫酸盐的酶，这是身体内稳态的一个重要过程。它们通常被不常见的氨基酸甲酰甘氨酸激活，甲酰甘氨酸由半胱氨酸在催化中心形成，由甲酰甘氨酸生成酶介导作为翻译后修饰。硫酸酯酶在各种细胞区室中表达，如溶酶体、内质网和高尔基体。哺乳动物硫酸酯酶的底物是硫脂、糖胺聚糖和类固醇激素。这些酶维持中枢和外周神经系统中的神经元功能、结缔组织中的软骨形成和软骨、肝脏中的外源性物质和药理学化合物的解毒、胎盘中的类固醇激素失活以及皮肤湿润的适当调节。人类硫酸酯酶由17个基因组成，其中10个与先天性疾病有关，包括溶酶体贮积症，而其余7个基因的功能尚不清楚。至于负责发病机制的基因，已经开发了治疗策略。向患者施用用重组酶试剂的酶替代疗法和用通过病毒载体递送的治疗性转基因的基因疗法。本文综述了硫酸酯酶的生化底物、疾病表现和治疗。
Sulfatases are enzymes that catalyze the removal of sulfate from biological substances, an essential process for the homeostasis of the body. They are commonly activated by the unusual amino acid formylglycine, which is formed from cysteine at the catalytic center, mediated by a formylglycine-generating enzyme as a post-translational modification. Sulfatases are expressed in various cellular compartments such as the lysosome, the endoplasmic reticulum, and the Golgi apparatus. The substrates of mammalian sulfatases are sulfolipids, glycosaminoglycans, and steroid hormones. These enzymes maintain neuronal function in both the central and the peripheral nervous system, chondrogenesis and cartilage in the connective tissue, detoxification from xenobiotics and pharmacological compounds in the liver, steroid hormone inactivation in the placenta, and the proper regulation of skin humidification. Human sulfatases comprise 17 genes, 10 of which are involved in congenital disorders, including lysosomal storage disorders, while the function of the remaining seven is still unclear. As for the genes responsible for pathogenesis, therapeutic strategies have been developed. Enzyme replacement therapy with recombinant enzyme agents and gene therapy with therapeutic transgenes delivered by viral vectors are administered to patients. In this review, the biochemical substrates, disease manifestation, and therapy for sulfatases are summarized.
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DOI：
10.1016/j.omtm.2020.11.015
发表时间：
2021-03-12
期刊：
Molecular therapy. Methods & clinical development
影响因子：
--
作者：
Ferla R;Alliegro M;Dell'Anno M;Nusco E;Cullen JM;Smith SN;Wolfsberg TG;O'Donnell P;Wang P;Nguyen AD;Chandler RJ;Chen Z;Burgess SM;Vite CH;Haskins ME;Venditti CP;Auricchio A
通讯作者：
Auricchio A
影响因子：
4.8
作者：
Belur LR;Romero M;Lee J;Podetz-Pedersen KM;Nan Z;Riedl MS;Vulchanova L;Kitto KF;Fairbanks CA;Kozarsky KF;Orchard PJ;Frey WH 2nd;Low WC;McIvor RS
通讯作者：
McIvor RS
影响因子：
12.4
作者：
Cotugno, Gabriella;Annunziata, Patrizia;Auricchio, Alberto
通讯作者：
Auricchio, Alberto
影响因子：
3.7
作者：
Antony, Justin S.;Daniel-Moreno, Alberto;Mezger, Markus
通讯作者：
Mezger, Markus
影响因子：
2
作者：
Brunetti-Pierri, N;Andreucci, MV;Parenti, G
通讯作者：
Parenti, G