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The immune system as a driver of mitochondrial disease pathogenesis: a review of evidence.免疫系统作为线粒体疾病发病机制的驱动因素：证据综述。
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本文引用的文献

1
AIF, reactive oxygen species, and neurodegeneration: a "complex" problem.AIF、活性氧物种与神经变性：一个“复杂”的问题。
Neurochem Int. 2013 Apr;62(5):695-702. doi: 10.1016/j.neuint.2012.12.002. Epub 2012 Dec 12.
2
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.牛角综合征与凋亡诱导因子的突变有关。
Am J Hum Genet. 2012 Dec 7;91(6):1095-102. doi: 10.1016/j.ajhg.2012.10.008.
3
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.由于连锁分析和全外显子组测序发现 AIFM1 突变导致的产前早期脑室扩大。
Mol Genet Metab. 2011 Dec;104(4):517-20. doi: 10.1016/j.ymgme.2011.09.020. Epub 2011 Sep 24.
4
Apoptosis-inducing factor: structure, function, and redox regulation.凋亡诱导因子：结构、功能与氧化还原调控。
Antioxid Redox Signal. 2011 Jun 15;14(12):2545-79. doi: 10.1089/ars.2010.3445. Epub 2011 Mar 10.
5
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.严重的 X 连锁线粒体脑肌病伴凋亡诱导因子基因突变。
Am J Hum Genet. 2010 Apr 9;86(4):639-49. doi: 10.1016/j.ajhg.2010.03.002. Epub 2010 Apr 1.
6
AIF deficiency compromises oxidative phosphorylation.凋亡诱导因子缺乏会损害氧化磷酸化。
EMBO J. 2004 Nov 24;23(23):4679-89. doi: 10.1038/sj.emboj.7600461. Epub 2004 Nov 4.
7
X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.
Am J Med Genet. 1985 Feb;20(2):307-15. doi: 10.1002/ajmg.1320200214.

A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.

作者信息

Ardissone Anna, Piscosquito Giuseppe, Legati Andrea, Langella Tiziana, Lamantea Eleonora, Garavaglia Barbara, Salsano Ettore, Farina Laura, Moroni Isabella, Pareyson Davide, Ghezzi Daniele

机构信息

From the Foundation Institute of Neurology "Carlo Besta," Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milan, Italy.

出版信息

Neurology. 2015 May 26;84(21):2193-5. doi: 10.1212/WNL.0000000000001613. Epub 2015 May 1.

DOI:10.1212/WNL.0000000000001613
PMID:25934856
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4451043/
Abstract
摘要