换一批Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
第一作者：
Abdulraheem,Almalki
第一单位：
Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, Newcastle University, Newcastle upon Tyne NE2 4HH, UK. Electronic address: abdulraheem.almalki@newcastle.ac.uk.
作者：
关键词
Aminoacyl-tRNA synthetaseAminoacylationLBSLMLASAMRIMitochondriaMitochondrial diseaseMitochondrial translationOXPHOSPCH6Protein synthesisaaRSaminoacyl-tRNA synthetaseleukoencephalopathy with brain stem and spinal cord involvement and lactate elevationmagnetic resonance imagingmitochondrialmitochondrial DNAmt-mtDNAmyopathy, lactic acidosis and sideroblastic anaemiaoxidative phosphorylationpontocerebellar hypoplasia type 6
医学主题词
氨基酸序列(Amino Acid Sequence);氨酰基tRNA合成酶类(Amino Acyl-tRNA Synthetases);氨基酰化(Aminoacylation);儿童, 学龄前(Child, Preschool);环氧化酶1(Cyclooxygenase 1);环氧化酶2(Cyclooxygenase 2);细胞色素c氧化酶缺乏(Cytochrome-c Oxidase Deficiency);电子传递复合物Ⅳ(Electron Transport Complex IV);癫痫(Epilepsy);成纤维细胞(Fibroblasts);基因表达(Gene Expression);人类(Humans);男(雄)性(Male);线粒体(Mitochondria);分子序列数据(Molecular Sequence Data);肌, 骨骼(Muscle, Skeletal);突变(Mutation);成肌细胞(Myoblasts);RNA, 信使(RNA, Messenger);RNA, 转移(RNA, Transfer)
DOI
10.1016/j.bbadis.2013.10.008
PMID
24161539
发布时间
2025-05-29
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