Inherited disorders of transition metal metabolism: an update
Author:
Funder
Great Ormmond Street Hospital Children’s Charity
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0030-x/fulltext.html
Reference35 articles.
1. Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB (2015) Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Front Genet 6:123
2. Barupala DP, Dzul SP, Riggs-Gelasco PJ, Stemmler TL (2016) Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. Arch Biochem Biophys 592:60–75
3. Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT, Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R (2015) Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8. Am J Hum Genet 97(6):886–893
4. Canonne-Hergaux F, Gruenheid S, Govoni G, Gros P (1999) The Nramp1 protein and its role in resistance to infection and macrophage function. Proc Assoc Am Physicians 111(4):283–289
5. Chen P, Chakraborty S, Mukhopadhyay S, Lee E, Paoliello MM, Bowman AB, Aschner M (2015) Manganese homeostasis in the nervous system. J Neurochem 134(4):601–610
Cited by 27 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. Inhibition of Slc39a14/Slc39a8 reduce vascular calcification via alleviating iron overload induced ferroptosis in vascular smooth muscle cells;Cardiovascular Diabetology;2024-05-29
2. Genomic Basis for Individual Differences in Susceptibility to the Neurotoxic Effects of Diesel Exhaust;International Journal of Molecular Sciences;2022-10-18
3. Disorders of Manganese Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022
4. Oxidative Stress and Cellular Dysfunction in Neurodegenerative;Neurodegenerative Diseases Biomarkers;2021-10-16
5. INFLUENCE OF CERTAIN D-METALS ON FORMATION OF ADVANCED GLYCATION END PRODUCTS, AGGREGATION AND AMYLOID TRANSFORMATION OF ALBUMIN IN GLYCATION REACTION;Pharmacy & Pharmacology;2021-09-08
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