High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria

Published:2012-11 Issue:3 Volume:107 Page:363-367
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Dempsey-Nunez Laura,Illson Margaret L.,Kent Jana,Huang Qiuying,Brebner Alison,Watkins David,Gilfix Brian M.,Wittwer Carl T.,Rosenblatt David S.

Publisher

Elsevier BV

Subject

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

Reference21 articles.

1. Inborn errors of cobalamin absorption and metabolism;Watkins;Am. J. Med. Genet. C Semin. Med. Genet.,2011

2. Gene identification for the cblD defect of vitamin B12 metabolism;Coelho;N. Engl. J. Med.,2008

3. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria;Dobson;Hum. Mol. Genet.,2002

4. Protection and reactivation of human methylmalonyl-CoA mutase by MMAA protein;Takahashi-Iniguez;Biochem. Biophys. Res. Commun.,2011

5. Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH);Watkins;J. Med. Genet.,2000

Cited by 23 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. Structural insight into G-protein chaperone-mediated maturation of a bacterial adenosylcobalamin-dependent mutase;Journal of Biological Chemistry;2023-09

2. Architecture of the human G-protein-methylmalonyl-CoA mutase nanoassembly for B12 delivery and repair;Nature Communications;2023-07-19

3. Architecture of the human G-protein-methylmalonyl-CoA mutase nanoassembly for B₁₂delivery and repair;2023-03-23

4. Structure of metallochaperone in complex with the cobalamin-binding domain of its target mutase provides insight into cofactor delivery;Proceedings of the National Academy of Sciences;2023-02-14

5. Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia;Journal of Inherited Metabolic Disease;2022-06-23

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