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Identification of a Highly Expressed 3-Hydroxy-3-Methylglutaryl-CoA Reductase Gene in the Root Tissue of <i>Taraxacum kok-saghyz</i> 被引量:1
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作者 Grisel Ponciano Grace Q. Chen 《American Journal of Plant Sciences》 2014年第24期3603-3608,共6页
Kazakh dandelion (Taraxacum kok-saghyz, Tk) is a rubber-producing plant currently being investigated as a source of natural rubber for industrial applications. Like many other isoprenoids, rubber is a downstream produ... Kazakh dandelion (Taraxacum kok-saghyz, Tk) is a rubber-producing plant currently being investigated as a source of natural rubber for industrial applications. Like many other isoprenoids, rubber is a downstream product of the mevalonate pathway. The 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR) enzyme catalyzes the conversion of 3-hydroxy-3-methylglutaryl-CoA to mevalonic acid, a key regulatory step in the MVA pathway. Such regulated steps provide targets for increases in isoprenoid and rubber contents via genetic engineering to increase enzyme activities. In this study, we identify a TkHMGR1 gene that is highly expressed in the roots of Kazakh dandelion, the main tissue where rubber is synthesized and stored. This finding paves the way for further molecular and genetic studies of the TkHMGR1 gene, and its role in rubber biosynthesis in Tk and other rubber-producing plants. 展开更多
关键词 3-hydroxy-3-methylglutaryl-coa Reductase TARAXACUM kok-saghyz ROOT Gene Expression Quantitative Polymerase Chain Reaction
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3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症临床特点及基因变异分析
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作者 常国营 凌诗颖 +4 位作者 邱文娟 张惠文 梁黎黎 顾学范 韩连书 《临床儿科杂志》 CAS CSCD 北大核心 2023年第4期278-283,共6页
目的了解3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症的临床特点及基因变异情况。方法分析6例3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症患儿的临床资料及基因检测结果。结果6例患儿,男性3例,女性3例。1例家族史阳性。3例患儿当地医院行新生儿筛查... 目的了解3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症的临床特点及基因变异情况。方法分析6例3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症患儿的临床资料及基因检测结果。结果6例患儿,男性3例,女性3例。1例家族史阳性。3例患儿当地医院行新生儿筛查提示该疾病,2例患儿为发病后临床诊断,1例患儿至今未发病。5例患儿发病年龄10天~5岁。初诊年龄为1个月~7岁,发病时均有不同程度的代谢危象、低血糖和高乳酸血症等表现。2例患儿死亡。血串联质谱显示3-羟基异戊酰肉碱升高,部分患儿伴有己二酰肉碱升高;尿有机酸分析提示3-羟基-3-甲基戊二酸显著升高,伴3-甲基戊烯二酸、3-羟基异戊酸等增高。4例患儿基因检测均发现HMGCL基因变异:2例c.122G>A(p.R41Q)纯合;1例c.697C>T(p.H233Y)纯合;1例c.145-2A>G和c.590G>A(p.C197Y)复合杂合。其中,c.697C>T(p.H 233Y)、c.145-2A>G和c.590G>A(p.C 197Y)变异均为首次报道,蛋白结构预测均为可能有害,ACMG评级为可能致病。另2例患儿未行基因检测。结论3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症临床表型多样,结合血串联质谱、尿有机酸分析及基因诊断可确诊。对3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症的筛查有助于早期确诊及合理治疗。 展开更多
关键词 3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症 HMGCL基因 3-羟基异戊酰肉碱 3-羟基-3甲基戊二酸
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3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症2例患儿的临床及遗传学分析
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作者 吴雪 付东霞 +3 位作者 王会贞 毋盛楠 李东晓 陈永兴 《中华医学遗传学杂志》 CAS CSCD 2024年第2期199-204,共6页
目的探讨3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症(HMGCLD)患儿的临床特征和基因变异。方法选择分别于2019年12月和2022年6月在河南省儿童医院确诊的2例HMGCLD患儿作为研究对象。收集患儿的临床资料、实验室检查以及基因检测结果,分析其... 目的探讨3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症(HMGCLD)患儿的临床特征和基因变异。方法选择分别于2019年12月和2022年6月在河南省儿童医院确诊的2例HMGCLD患儿作为研究对象。收集患儿的临床资料、实验室检查以及基因检测结果,分析其临床和遗传学特点。结果患儿均表现为反复抽搐、严重低血糖、代谢性酸中毒、肝功能异常等,血氨基酸及酰基肉碱谱中3-羟基-异戊酰肉碱(C5OH)、3-羟基-异戊酰肉碱/辛酰肉碱比值(C5OH/C8)升高,尿有机酸分析3-羟基-3-甲基戊二酸、3-甲基戊二酸、3-甲基戊烯二酸、3-羟基异戊酸及3-甲基巴豆酰甘氨酸增多。患儿1携带HMGCL基因c.722C>T纯合变异,评级为临床意义未明变异(PM2Supporting+PP3)。患儿2携带HMGCL基因c.121C>T纯合变异,评级为致病性变异(PVS1+PM2Supporting+PP4)。结论HMGCLD的急性发作期多表现为低血糖、代谢性酸中毒等代谢紊乱,尿中升高的有机酸有助于鉴别诊断,但确诊有赖于基因检测。 展开更多
关键词 3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症 低血糖 代谢性酸中毒 HMGCL基因
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Formation of (2E)-4-Hydroxy-2-nonenal and (2E)-4-Hydroxy-2-hexenal by Plant Enzymes: A Review Suggests a Role in the Physiology of Plants
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作者 Harold W. Gardner 《Advances in Enzyme Research》 CAS 2016年第2期56-61,共6页
It is demonstrated that (3Z)-nonenal (NON) and (3Z)-hexenal (HEX) are oxidized in a cascade by lipoxygenase (LOX) and hydroperoxide peroxygenase (HP peroxygenase) into (2E)-4-hydroxy-2- nonenal (HNE) and (2E)-4-hydrox... It is demonstrated that (3Z)-nonenal (NON) and (3Z)-hexenal (HEX) are oxidized in a cascade by lipoxygenase (LOX) and hydroperoxide peroxygenase (HP peroxygenase) into (2E)-4-hydroxy-2- nonenal (HNE) and (2E)-4-hydroxy-2-hexenal (HHE), respectively. In turn, HNE inactivates LOX terminating the cascade. The hydroxy-alkenals produced serve to inhibit plant pathogens, which initiated the cascade. In addition to LOX, other unknown oxygenases may be involved in the cascade. 展开更多
关键词 (3Z)-Nonenal (3Z)-Hexenal (2E)-4-hydroxy-2-nonenal (2E)-4-hydroxy-2-hexenal (2E)-4-Hydroperoxy-2-hexenal LIPOXYGENASE Hydroperoxide Peroxygenase Hydroperoxide lyase (2E)-4-Hydroperoxy-2-Nonenal 3 4-Epoxynonanal (2E)-4-Oxo-2-nonenal Glycine max Vica faba Plant Pathogen
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Cholesterol synthesis inhibition or depletion in axon regeneration 被引量:1
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作者 Bor Luen Tang 《Neural Regeneration Research》 SCIE CAS CSCD 2022年第2期271-276,共6页
Cholesterol is biosynthesized by all animal cells. Beyond its metabolic role in steroidogenesis, it is enriched in the plasma membrane where it has key structural and regulatory functions. Cholesterol is thus presumab... Cholesterol is biosynthesized by all animal cells. Beyond its metabolic role in steroidogenesis, it is enriched in the plasma membrane where it has key structural and regulatory functions. Cholesterol is thus presumably important for post-injury axon regrowth, and this notion is supported by studies showing that impairment of local cholesterol reutilization impeded regeneration. However, several studies have also shown that statins, inhibitors of 3-hydroxy-3-methylglutaryl-Co A reductase, are enhancers of axon regeneration, presumably acting through an attenuation of the mevalonate isoprenoid pathway and consequent reduction in protein prenylation. Several recent reports have now shown that cholesterol depletion, as well as inhibition of cholesterol synthesis per se, enhances axon regeneration. Here, I discussed these findings and propose some possible underlying mechanisms. The latter would include possible disruptions to axon growth inhibitor signaling by lipid raft-localized receptors, as well as other yet unclear neuronal survival signaling process enhanced by cholesterol lowering or depletion. 展开更多
关键词 axon regeneration cholesterol 3-hydroxy-3-methylglutaryl-coa reductase(HMG-CoA reductase) lipid raft methyl-β-cyclodextrin Nogo receptor prominin-1 RhoA STATINS
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Expression of <i>HMGR</i>in Lilu cattle tissues
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作者 Guifen Liu Fachun Wan +3 位作者 Xiaomu Liu Haijian Cheng Xiuwen Tan Enliang Song 《Open Journal of Animal Sciences》 2012年第1期45-48,共4页
The 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR ) is an essential enzyme in cholesterol biosynthesis. To study the expression of HMGR in adipose and muscle tissues, and some performance indexes of four age stages, ... The 3-hydroxy-3-methylglutaryl-CoA reductase (HMGR ) is an essential enzyme in cholesterol biosynthesis. To study the expression of HMGR in adipose and muscle tissues, and some performance indexes of four age stages, twelve Lilu cattle were selected. The results indicated that the Lilu beef cattle have good production and slaughter performance. HMGR mRNA expression level in adipose was higher than in muscle, but the trend in adipose was the same as in muscle. HMGR mRNA expression is difference in adipose and muscle tissues suggesting this gene is expressed in a tissue-dependent manner in cattle. Understanding the causes of variation in HMGR gene expression may provide crucial information about cholesterol biosynthesis in Lilu beef cattle. 展开更多
关键词 3-hydroxy-3-methylglutaryl-coa Reductase mRNA EXPRESSION TISSUES CATTLE
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