Norepinephrine deficiency is caused by combined abnormal mRNA processing and defective protein trafficking of dopamine β-hydroxylase

Journal of Biological Chemistry

Volumn 286, Issue 11, 2011, Pages 9196-9204

  Kim, Chun Hyung ^a   Leung, Amanda ^a   Huh, Yang Hoon ^b   Yang, Eungi ^a   Kim, Deog Joong ^a   Leblanc, Pierre ^a   Ryu, Hoon ^c   Kim, Kyungjin ^d   Kim, Dong Wook ^e   Garland, Emily M ^f   Raj, Satish R ^f   Biaggioni, Italo ^f   Robertson, David ^f   Kim, Kwang Soo ^a  

^a MCLEAN HOSPITAL   (United States)

^b BOSTON BIOMEDICAL RESEARCH INSTITUTE   (United States)

^c BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Seoul National University   (South Korea)

^e Yonsei University College of Medicine   (South Korea)

^f VANDERBILT UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONGENITAL DISORDERS; ENDOPLASMIC RETICULUM; ER STRESS; HYDROXYLASES; MOLECULAR MECHANISM; MUTATION RESULTS; PATHOGENIC MUTATION; PROTEIN PRODUCTION; PROTEIN TRAFFICKING; SPLICE DONORS;

BRAIN; GLYCEROL; NUCLEIC ACIDS;

PROTEINS;

DOPAMINE BETA MONOOXYGENASE; MESSENGER RNA; NORADRENALIN;

ADULT; ANIMAL CELL; ARTICLE; CASE REPORT; CELL FRACTIONATION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; EXPRESSION VECTOR; GENETIC DISORDER; HUMAN; IMMUNOPRECIPITATION; MISSENSE MUTATION; NONHUMAN; NORADRENALIN DEFICIENCY; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN TRANSPORT; RNA PROCESSING; SEQUENCE ALIGNMENT; SITE DIRECTED MUTAGENESIS;

ANIMALS; AUTONOMIC NERVOUS SYSTEM DISEASES; CHO CELLS; CRICETINAE; CRICETULUS; CRYOPROTECTIVE AGENTS; DOPAMINE BETA-HYDROXYLASE; ENDOPLASMIC RETICULUM; GLYCEROL; HEAT-SHOCK PROTEINS; HUMANS; MUTATION; NOREPINEPHRINE; PROTEIN TRANSPORT; RNA PROCESSING, POST-TRANSCRIPTIONAL; RNA SPLICE SITES; RNA, MESSENGER;

EID: 79953219050     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M110.192351     Document Type: Article

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