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Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2

机译：已知的癫痫基因LGI1和疾病候选基因LGI2之间的分子表型相似性

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摘要

BackgroundThe LGI2 (leucine-rich, glioma inactivated 2) gene, a prime candidate for partial epilepsy with pericentral spikes, belongs to a family encoding secreted, beta-propeller domain proteins with EPTP/EAR epilepsy-associated repeats. In another family member, LGI1 (leucine-rich, glioma inactivated 1) mutations are responsible for autosomal dominant lateral temporal epilepsy (ADLTE). Because a few LGI1 disease mutations described in the literature cause secretion failure, we experimentally analyzed the secretion efficiency and subcellular localization of several LGI1 and LGI2 mutant proteins corresponding to observed non-synonymous single nucleotide polymorphisms (nsSNPs) affecting the signal peptide, the leucine-rich repeats and the EAR propeller.

机译：背景LGI2（富含亮氨酸的神经胶质瘤灭活2）基因是部分癫痫发作和中心周围尖峰的主要候选基因，属于编码与EPTP / EAR癫痫相关重复的分泌的β-螺旋结构域蛋白的家族。在另一个家族成员中，LGI1（富含亮氨酸的神经胶质瘤灭活1）突变负责常染色体显性遗传性侧颞癫痫（ADLTE）。由于文献中描述的一些LGI1疾病突变会导致分泌失败，因此我们通过实验分析了几种LGI1和LGI2突变蛋白的分泌效率和亚细胞定位，这些蛋白对应于观察到的影响信号肽（亮氨酸-丰富的重复和EAR螺旋桨。

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期刊名称 BMC Biochemistry
作者
Vachiranee Limviphuvadh; Ling Ling Chua; Rabi Atul Adawiyah Bte Rahim; Frank Eisenhaber; Sebastian Maurer-Stroh; Sharmila Adhikari;
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作者单位

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年(卷),期 2010(11),-1
年度 2010
页码 39
总页数 13
原文格式 PDF
正文语种
中图分类分子生物学;
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专利

1. Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2 [J] . Vachiranee Limviphuvadh, Ling Ling Chua, Rabi ’Atul’ Adawiyah Bte Rahim BMC Biochemistry . 2010,第39期

机译：已知的癫痫基因LGI1和疾病候选基因LGI2之间的分子表型相似性
2. Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2 [J] . Vachiranee Limviphuvadh, Ling Ling Chua, Rabi #39, BMC Biochemistry . 2010,第1期

机译：已知的癫痫基因LGI1和疾病候选基因LGI2之间的分子表型相似性
3. IS LGI2 THE CANDIDATE GENE FOR PARTIALEPILEPSY WITH PERICENTRAL SPIKES? [J] . VACHIRANEE LIMVIPHUVADH, LING LINGCHUA, FRANK EISENHABER, Journal of Bioinformatics and Computational Biology . 2010,第1期

机译：LGI2是否是患有部分发作的部分癫痫的候选基因？
4. Search of phenotype related candidate genes using Gene Ontology-based semantic similarity and protein interaction information: Application to Brugada syndrome [C] . Raimon Massanet, Joan-Josep Gallardo-Chacon, Pere Caminal, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2009

机译：基于基于基于基于基因属性的语义相似性和蛋白质相互作用信息搜索表型相关候选基因：对Brugada综合征的应用
5. Defining the molecular phenotype of the rat retina during the commitment phase of light-induced retinal degeneration: A model of human retinal degenerative disease. [D] . Stepczynski, Jadwiga Maja. 2001

机译：在光诱导的视网膜变性的定型阶段，定义大鼠视网膜的分子表型：人类视网膜变性疾病的模型。
6. Genetic similarity between cancers and comorbid Mendelian diseases identifies candidate driver genes [O] . Rachel D. Melamed, Kevin J. Emmett, Chioma Madubata, -1

机译：癌症和孟德尔合并症之间的遗传相似性确定了候选驱动基因
7. Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2 [O] . Vachiranee Limviphuvadh, Ling Chua, Rabi Rahim, 2010

机译：已知的癫痫基因LGI1和疾病候选基因LGI2之间的分子表型相似性

Similarity of molecular phenotype between known epilepsy gene LGI1 and disease candidate gene LGI2

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