Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel compound heterozygous ACO2 mutations in an infant with progressive encephalopathy: A newly identified neurometabolic syndrome

Published:2020-10 Issue:9 Volume:42 Page:680-685
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Park Ji Soo,Kim Man Jin,Kim Soo Yeon,Lim Byung Chan,Kim Ki Joong,Seong Moon-Woo,Lee Jin Sook,Chae Jong-Hee

Funder

Korea Centers for Disease Control and Prevention

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference16 articles.

1. Casting an eye on the Krebs cycle;Munnich;Nat Genet,2008

2. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2;Spiegel;Am J Hum Genet,2012

3. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy;Metodiev;J Med Genet,2014

4. Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency;Sadat;Mol Genet Metab,2016

5. Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency;Abela;PLoS ONE,2017

Cited by 10 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. Whole exome sequencing in energy deficiency inborn errors of metabolism: A systematic review;Molecular Genetics and Metabolism Reports;2024-09

2. Analysis and identification of mitochondrial DNA associated with age-related hearing loss;2024-06-07

3. A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models;Frontiers in Pharmacology;2024-03-01

4. Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathy;JIMD Reports;2023-12-15

5. ACO2 deficiency increases vulnerability to Parkinson’s disease via dysregulating mitochondrial function and histone acetylation-mediated transcription of autophagy genes;Communications Biology;2023-11-25

同舟云学术

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