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The investigation of respiratory chain disorders in heart using endomyocardial biopsies.

作者信息

Rustin P, Lebidois J, Chretien D, Bourgeron T, Piechaud J F, Rötig A, Sidi D, Munnich A

机构信息

Département de Pédiatrie, INSERM U-12, Hôpital des Enfants-Malades, Paris, France.

出版信息

J Inherit Metab Dis. 1993;16(3):541-4. doi: 10.1007/BF00711676.

DOI:10.1007/BF00711676
PMID:7609447
Abstract
摘要

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本文引用的文献

1
Histiocytoid cardiomyopathy of infancy: deficiency of reducible cytochrome b in heart mitochondria.
Pediatr Res. 1984 Oct;18(10):1023-8. doi: 10.1203/00006450-198410000-00023.
2
Cytochrome c oxidase deficiency.细胞色素c氧化酶缺乏症。
Biochem Soc Trans. 1985 Aug;13(4):651-3. doi: 10.1042/bst0130651.
3
Mapping a gene for familial hypertrophic cardiomyopathy to chromosome 14q1.将家族性肥厚型心肌病的一个基因定位于染色体14q1。
N Engl J Med. 1989 Nov 16;321(20):1372-8. doi: 10.1056/NEJM198911163212005.
从研究到临床的多功能能量代谢平台：细胞生物能量学的综合视角
Front Toxicol. 2022 Feb 3;3:750431. doi: 10.3389/ftox.2021.750431. eCollection 2021.
4
Mitochondrial metabolism supports resistance to IDH mutant inhibitors in acute myeloid leukemia.线粒体代谢支持急性髓系白血病对 IDH 突变抑制剂的耐药性。
J Exp Med. 2021 May 3;218(5). doi: 10.1084/jem.20200924.
5
Metabolic flexibility of mitochondrial respiratory chain disorders predicted by computer modelling.通过计算机建模预测线粒体呼吸链疾病的代谢灵活性
Mitochondrion. 2016 Nov;31:45-55. doi: 10.1016/j.mito.2016.09.003. Epub 2016 Sep 30.
6
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase.由琥珀酸脱氢酶黄素蛋白亚单位突变引起的家族性新生儿孤立性心肌病。
Eur J Hum Genet. 2010 Oct;18(10):1160-5. doi: 10.1038/ejhg.2010.83. Epub 2010 Jun 16.
7
Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction.
Eur J Pediatr. 2007 Aug;166(8):867-70. doi: 10.1007/s00431-006-0310-1. Epub 2006 Nov 3.
8
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?线粒体呼吸链疾病与核DNA突变：一个有前景的开端？
Brain Pathol. 2000 Jul;10(3):442-50. doi: 10.1111/j.1750-3639.2000.tb00276.x.
9
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.显性遗传性视神经萎缩的临床特征、分子遗传学及病理生理学
J Med Genet. 1998 Oct;35(10):793-800. doi: 10.1136/jmg.35.10.793.
10
Mitochondrial function in children with idiopathic dilated cardiomyopathy.特发性扩张型心肌病患儿的线粒体功能
J Inherit Metab Dis. 1996;19(3):309-12. doi: 10.1007/BF01799259.
4
The measurement of the rotenone-sensitive NADH cytochrome c reductase activity in mitochondria isolated from minute amount of human skeletal muscle.
Biochem Biophys Res Commun. 1990 Nov 30;173(1):26-33. doi: 10.1016/s0006-291x(05)81016-2.
5
Assessment of the mitochondrial respiratory chain.线粒体呼吸链的评估
Lancet. 1991 Jul 6;338(8758):60. doi: 10.1016/0140-6736(91)90057-v.
6
Isolation and characterization of mitochondria from human B lymphoblastoid cell lines.从人B淋巴母细胞系中分离线粒体并进行表征。
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Am J Cardiol. 1978 May 1;41(5):887-92. doi: 10.1016/0002-9149(78)90729-4.