PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases.
PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases.
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DOI：
10.3390/metabo12040284
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发表时间：
2022-03-24
期刊：
影响因子：
4.1
通讯作者：
中科院分区：
文献类型：
--
作者：
Patatin样磷脂酶结构域包含蛋白6(PNPLA6)，最初被称为神经病变靶标酯酶(NTE)，属于哺乳动物中至少有8个成员的水解酶家族。PNPLA6/NTE首次被确定为有机磷诱导的迟发性神经病的关键因素，这是一种在接触杀虫剂和神经毒剂中发现的有机磷后发生的退行性综合征。最近，PNPLA6/NTE的突变与许多遗传性疾病有关，这些疾病具有不同的临床症状，包括痉挛截瘫、共济失调和脉络膜视网膜营养不良。在小鼠大脑中，PNPLA6/NTE的条件基因敲除会导致年龄相关的神经退化，而完全基因敲除会由于胎盘发育缺陷而导致胚胎发生期间的死亡。PNPLA6/NTE是一种进化上保守的蛋白质，在果蝇中被称为瑞士奶酪(Swiss-Cheese，SWS)。果蝇体内SWS的缺失还会导致运动性缺陷和神经元退化，并随着年龄的增长而逐渐恶化。这篇综述将描述PNPLA6/NTE的鉴定、其表达模式、在脂质平衡中的正常作用，以及NPLA6/NTE功能改变在模型系统和患者中的后果。
Patatin-like phospholipase domain-containing protein 6 (PNPLA6), originally called Neuropathy Target Esterase (NTE), belongs to a family of hydrolases with at least eight members in mammals. PNPLA6/NTE was first identified as a key factor in Organophosphate-induced delayed neuropathy, a degenerative syndrome that occurs after exposure to organophosphates found in pesticides and nerve agents. More recently, mutations in PNPLA6/NTE have been linked with a number of inherited diseases with diverse clinical symptoms that include spastic paraplegia, ataxia, and chorioretinal dystrophy. A conditional knockout of PNPLA6/NTE in the mouse brain results in age-related neurodegeneration, whereas a complete knockout causes lethality during embryogenesis due to defects in the development of the placenta. PNPLA6/NTE is an evolutionarily conserved protein that in Drosophila is called Swiss-Cheese (SWS). Loss of SWS in the fly also leads to locomotory defects and neuronal degeneration that progressively worsen with age. This review will describe the identification of PNPLA6/NTE, its expression pattern, and normal role in lipid homeostasis, as well as the consequences of altered NPLA6/NTE function in both model systems and patients.
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果蝇溶血磷脂酶基因瑞士奶酪是生存和繁殖所必需的。
影响因子：
3
作者：
Melentev PA;Sharapenkov EG;Surina NV;Ivanova EA;Ryabova EV;Sarantseva SV
通讯作者：
Sarantseva SV
DOI：
10.1111/j.1749-6632.1969.tb15851.x
发表时间：
1969-01-01
影响因子：
5.2
作者：
Aldridge, W N;Barnes, J M;Johnson, M K
通讯作者：
Johnson, M K
影响因子：
4.8
作者：
Atkins, J;Glynn, P
通讯作者：
Glynn, P
影响因子：
6
作者：
Deik A;Johannes B;Rucker JC;Sánchez E;Brodie SE;Deegan E;Landy K;Kajiwara Y;Scelsa S;Saunders-Pullman R;Paisán-Ruiz C
通讯作者：
Paisán-Ruiz C
DOI：
10.3988/jcn.2022.18.2.233
发表时间：
2022-03
期刊：
Journal of clinical neurology (Seoul, Korea)
影响因子：
--
作者：
Chung EJ;You E;Oh SH;Seo GH;Chung WY;Kim YJ;Kim SJ
通讯作者：
Kim SJ