The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.
作者信息
Chomyn A
机构信息
Division of Biology, California Institute of Technology, Pasadena, CA, USA.
出版信息
Am J Hum Genet. 1998 Apr;62(4):745-51. doi: 10.1086/301813.
Abstract
摘要
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The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics.肌阵挛性癫痫伴破碎红纤维突变为人线粒体功能和遗传学提供了新见解。
Am J Hum Genet. 1998 Apr;62(4):745-51. doi: 10.1086/301813.
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本文引用的文献
1
Mitochondrial dysfunction in idiopathic Parkinson disease.特发性帕金森病中的线粒体功能障碍
Am J Hum Genet. 1998 Apr;62(4):758-62. doi: 10.1086/301812.
2
Mitochondrial genetics '98 is the bottleneck cracked?《线粒体遗传学98》是瓶颈被突破了吗？
Am J Hum Genet. 1998 Apr;62(4):752-7. doi: 10.1086/301811.
3
Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates.肌阵挛性癫痫伴蓬毛样红纤维（MERRF）综合征：中枢神经系统神经元的选择性易损性与单个神经元分离物中线粒体tRNAlys突变水平无关。
J Neurosci. 1997 Oct 15;17(20):7746-53. doi: 10.1523/JNEUROSCI.17-20-07746.1997.
4
Mitochondrial DNA mutations and pathogenesis.线粒体DNA突变与发病机制。
J Bioenerg Biomembr. 1997 Apr;29(2):131-49. doi: 10.1023/a:1022685929755.
5
Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase.由一种保守、新型、预测的GTP酶介导的发育调控的线粒体融合。
Cell. 1997 Jul 11;90(1):121-9. doi: 10.1016/s0092-8674(00)80319-0.
6
Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation.一个因线粒体np 7445耳聋相关突变而纯质的人淋巴母细胞系的分子表型。
Hum Mol Genet. 1997 Mar;6(3):443-9. doi: 10.1093/hmg/6.3.443.
7
The interorganellar interaction between distinct human mitochondria with deletion mutant mtDNA from a patient with mitochondrial disease and with HeLa mtDNA.患有线粒体疾病患者的带有缺失突变线粒体DNA的不同人类线粒体与海拉细胞线粒体DNA之间的细胞器间相互作用。
J Biol Chem. 1997 Feb 28;272(9):6028-33. doi: 10.1074/jbc.272.9.6028.
8
In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells.野生型及携带线粒体DNA突变的人类细胞中细胞色素c氧化酶对呼吸作用的体内调控
Proc Natl Acad Sci U S A. 1997 Feb 18;94(4):1166-71. doi: 10.1073/pnas.94.4.1166.
9
Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles.自突变事件以来共存的突变型和野生型人类线粒体DNA的互补以及分别引入不同细胞器内细胞中的DNA缺乏互补。
Mol Cell Biol. 1994 Apr;14(4):2699-712. doi: 10.1128/mcb.14.4.2699-2712.1994.
10
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.一个患有感音神经性耳聋的母系谱系中的新型线粒体点突变。
Hum Mutat. 1994;3(3):243-7. doi: 10.1002/humu.1380030311.
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