Deletion of Prepl Causes Growth Impairment and Hypotonia in Mice
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference31 articles.
1. The 2p21 deletion syndrome: characterization of the transcription content;R Parvari;Genomics,2005
2. The PREPL A protein, a new member of the prolyl oligopeptidase family, lacking catalytic activity;Z Szeltner;Cellular and Molecular Life Sciences CMLS,2005
3. Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome;J Jaeken;American Journal of Human Genetics,2006
4. Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome;K Martens;European Journal of Human Genetics,2007
5. Two novel deletions in hypotonia-cystinuria syndrome;L Regal;Molecular genetics and metabolism,2012
Cited by 19 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. Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions;JCI Insight;2024-09-10
2. Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-06
3. Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions;2023-12-19
4. Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome;2023-11-15
5. Regulators of mitonuclear balance link mitochondrial metabolism to mtDNA expression;Nature Cell Biology;2023-09-28
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