Molecular Mechanism of SLC6A8 Dysfunction with c.1699T > C (p.S567P) Mutation in Cerebral Creatine Deficiency Syndromes
Author:
Affiliation:
1. Department of Pharmaceutics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama
2. Graduate School of Biomedical Sciences, Tokushima University
Publisher
Pharmaceutical Society of Japan
Link
https://www.jstage.jst.go.jp/article/bpb/47/1/47_b23-00586/_pdf
Reference19 articles.
1. 1) Dunbar M, Jaggumantri S, Sargent M, Stockler-Ipsiroglu S, van Karnebeek CD. Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases. Mol. Genet. Metab., 112, 259–274 (2014).
2. 2) Wyss M, Kaddurah-Daouk R. Creatine and creatinine metabolism. Physiol. Rev., 80, 1107–1213 (2000).
3. 3) Jomura R, Akanuma S, Tachikawa M, Hosoya K. SLC6A and SLC16A family of transporters: contribution to transport of creatine and creatine precursors in creatine biosynthesis and distribution. Biochim. Biophys. Acta Biomembr., 1864, 183840 (2022).
4. 4) Braissant O, Henry H, Béard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids, 40, 1315–1324 (2011).
5. 5) van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J. Med. Genet., 50, 463–472 (2013).
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