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A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis.

作者信息

Seneca S, Abramowicz M, Lissens W, Muller M F, Vamos E, de Meirleir L

机构信息

Department of Medical Genetics, University Hospital of the Dutch-speaking Brussels Free University, Belgium.

出版信息

J Inherit Metab Dis. 1996;19(2):115-8. doi: 10.1007/BF01799407.

DOI:10.1007/BF01799407
PMID:8739943
Abstract
摘要

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2
Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.尿苷可维持培养的成纤维细胞中呼吸酶缺陷的表达。
Eur J Pediatr. 1993 Mar;152(3):270. doi: 10.1007/BF01956163.
3
Sequence and organization of the human mitochondrial genome.人类线粒体基因组的序列与组织
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Translation of MT-ATP6 pathogenic variants reveals distinct regulatory consequences from the co-translational quality control of mitochondrial protein synthesis.翻译 MT-ATP6 致病性变异体揭示了线粒体蛋白合成的共翻译质量控制的不同调节后果。
Hum Mol Genet. 2022 Apr 22;31(8):1230-1241. doi: 10.1093/hmg/ddab314.
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Mitochondrial stress response triggered by defects in protein synthesis quality control.线粒体应激反应由蛋白质合成质量控制缺陷引发。
Life Sci Alliance. 2019 Jan 25;2(1). doi: 10.26508/lsa.201800219. Print 2019 Feb.
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ATP Synthase Diseases of Mitochondrial Genetic Origin.线粒体遗传起源的ATP合酶疾病
Front Physiol. 2018 Apr 4;9:329. doi: 10.3389/fphys.2018.00329. eCollection 2018.
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