An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Author:

Mosegaard Signe,Bruun Gitte Hoffmann,Flyvbjerg Karen Freund,Bliksrud Yngve Thomas,Gregersen Niels,Dembic Maja,Annexstad Ellen,Tangeraas Trine,Olsen Rikke Katrine Jentoft,Andresen Brage S.ORCID

Funder

Denmark's Research Foundation

Danish Council of Independent Medical Research

Natur og Univers, Det Frie Forskningsråd

Novo Nordisk Fonden

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference36 articles.

1. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase;Frerman,2001

2. A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation;Houten;J. Inherit. Metab. Dis.,2010

3. The human flavoproteome;Lienhart;Arch. Biochem. Biophys.,2013

4. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency;Cornelius;Hum. Mol. Genet.,2012

5. FAD-dependent regulation of transcription, translation, post-translational processing, and post-processing stability of various mitochondrial acyl-CoA dehydrogenases and of electron transfer flavoprotein and the site of holoenzyme formation;Nagao;J. Biol. Chem.,1992

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