Deletion of 2‐aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Deletion of 2‐aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1

Published:2020-07-26 Issue:6 Volume:43 Page:1154-1164
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Leandro João¹²,Dodatko Tetyana¹²,DeVita Robert J.³⁴,Chen Hongjie¹⁵,Stauffer Brandon¹⁵,Yu Chunli¹⁵,Houten Sander M.¹²^ORCID

Affiliation:

1. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York New York USA

2. Icahn Institute for Data Science and Genomic Technology Icahn School of Medicine at Mount Sinai New York New York USA

3. Department of Pharmacological Sciences Icahn School of Medicine at Mount Sinai New York New York USA

4. Drug Discovery Institute Icahn School of Medicine at Mount Sinai New York New York USA

5. Mount Sinai Genomics, Inc. Stamford Connecticut USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12276

Reference50 articles.

1. Mutations in antiquitin in individuals with pyridoxine-dependent seizures

2. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum

3. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I

4. A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the island Lake variant of glutaric acidemia type I

5. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): Review and report of thirty novel mutations

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. Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1;ACS Chemical Biology;2024-06-25

2. Characterization, structure and inhibition of the human succinyl-CoA:glutarate-CoA transferase, a genetic modifier of glutaric aciduria type 1;2024-02-07

3. A case of hyperlysinemia identified by urine newborn screening;JIMD Reports;2023-10-22

4. Update current understanding of neurometabolic disorders related to lysine metabolism;Epilepsy & Behavior;2023-09

5. Acyl‐CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism;Journal of Inherited Metabolic Disease;2023-06-19

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