Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family.

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作者信息

Bakker H D, Van den Bogert C, Scholte H R, Zwart R, Wijburg F A, Spelbrink J N

机构信息

Emma Kinderziekenhuis/AMC, Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1996;19(2):112-4. doi: 10.1007/BF01799406.

DOI:10.1007/BF01799406

PMID:8739942

Abstract

摘要

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本文引用的文献

The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines.

Hum Mol Genet. 1995 Sep;4(9):1591-6. doi: 10.1093/hmg/4.9.1591.

Regulation of the expression of mitochondrial proteins: relationship between mtDNA copy number and cytochrome-c oxidase activity in human cells and tissues.线粒体蛋白表达的调控：人类细胞和组织中线粒体DNA拷贝数与细胞色素c氧化酶活性之间的关系。

Biochim Biophys Acta. 1993 Sep 13;1144(2):177-83. doi: 10.1016/0005-2728(93)90170-k.

NRF-1, an activator involved in nuclear-mitochondrial interactions, utilizes a new DNA-binding domain conserved in a family of developmental regulators.NRF-1是一种参与核-线粒体相互作用的激活因子，它利用了在一类发育调节因子家族中保守的新型DNA结合结构域。

Genes Dev. 1993 Dec;7(12A):2431-45. doi: 10.1101/gad.7.12a.2431.

Mitochondrial encephalomyopathies.线粒体脑肌病

Arch Neurol. 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008.

Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathy.一名严重线粒体脑肌病患者细胞色素c氧化酶的动力学改变

Biochim Biophys Acta. 1995 Apr 24;1270(2-3):193-201. doi: 10.1016/0925-4439(95)00044-5.

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.线粒体DNA耗竭伴组织表达可变：线粒体疾病中的一种新型基因异常

Am J Hum Genet. 1991 Mar;48(3):492-501.

Fatal infantile liver failure associated with mitochondrial DNA depletion.与线粒体DNA耗竭相关的致命性婴儿肝衰竭

J Pediatr. 1992 Dec;121(6):896-901. doi: 10.1016/s0022-3476(05)80335-x.

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