Norepinephrine Deficiency Is Caused by Combined Abnormal mRNA Processing and Defective Protein Trafficking of Dopamine β-Hydroxylase

Human norepinephrine (NE) deficiency (or dopamine β-hydroxylase (DBH) deficiency) is a rare congenital disorder of primary autonomic failure, in which neurotransmitters NE and epinephrine are undetectable. Although potential pathogenic mutations, such as a common splice donor site mutation (IVS1+2T→...

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Bibliografski detalji
Glavni autori: Kim, Chun-Hyung, Leung, Amanda, Huh, Yang Hoon, Yang, Eungi, Kim, Deog-Joong, Leblanc, Pierre, Ryu, Hoon, Kim, Kyungjin, Kim, Dong-Wook, Garland, Emily M., Raj, Satish R., Biaggioni, Italo, Robertson, David, Kim, Kwang-Soo
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2011
Teme:
Molecular Bases of Disease
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3059068/
https://ncbi.nlm.nih.gov/pubmed/21209083
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.192351
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