期刊
MOLECULAR GENETICS AND METABOLISM
卷 92, 期 3, 页码 274-277出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2007.07.004
关键词
tyrosine hydroxylase deficiency; dopa-responsive encephalopathy; TH gene promoter; mutation analysis; cAMP response element; CRE; neurotransmission
We report a recessive mutation in the tyrosine hydroxylase gene (TH) promoter (c.1-71C>T), present at homozygosity in a patient with dopa-responsive encephalopathy. The change lies in a cAMP response element (CRE) and alters a binding site for the CREM transcription factor. Previous studies support that the CRE in the TH gene is essential for its transcription, suggesting that mutations within this consensus motif may cause an impairment of catecholamine biosynthesis and lead to a pathogenic phenotype. (C) 2007 Elsevier Inc. All rights reserved.
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