SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences
Author:
Funder
Chinese National Science Foundation
Zhejiang Provincial Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference38 articles.
1. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice;Agostino;Hum. Mol. Genet.,2003
2. The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme;Bai;EMBO J.,1998
3. Genetic background influences mitochondrial function: modeling mitochondrial disease for therapeutic development;Benit;Trends Mol. Med.,2010
4. Two variants of the assembly factor Surf1 target specific terminal oxidases in Paracoccus denitrificans;Bundschuh;Biochim. Biophys. Acta,2008
5. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing;Calvo;Sci. Transl. Med.,2012
Cited by 14 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees;2024-09-11
2. Dexmedetomidine attenuates postoperative spatial memory impairment after surgery by reducing cytochrome C;BMC Anesthesiology;2023-03-20
3. Natural History of SURF1 Deficiency: A Retrospective Chart Review;Pediatric Neurology;2023-03
4. Serine active site containing protein 1 depletion alters lipid metabolism and protects against high fat diet-induced obesity in mice;Metabolism;2022-09
5. Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement;Journal of Dr Behcet Uz Children s Hospital;2022-04-11
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3