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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >The maturity-onset diabetes of the young (MODY1) transcription factor HNF4α regulates expression of genes required for glucose transport and metabolism
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The maturity-onset diabetes of the young (MODY1) transcription factor HNF4α regulates expression of genes required for glucose transport and metabolism

机译:年轻的(MODY1)转录因子HNF4α的成熟期糖尿病调节葡萄糖转运和代谢所需的基因表达

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摘要

Hepatocyte nuclear factor 4α (HNF4α) plays a critical role in regulating the expression of many genes essential for normal functioning of liver, gut, kidney, and pancreatic islets. A nonsense mutation (Q268X) in exon 7 of the HNF4α gene is responsible for an autosomal dominant, early-onset form of non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young; gene named MODY1). Although this mutation is predicted to delete 187 C-terminal amino acids of the HNF4α protein the molecular mechanism by which it causes diabetes is unknown. To address this, we first studied the functional properties of the MODY1 mutant protein.
机译:肝细胞核因子4α(HNF4α)在调节肝,肠,肾和胰岛正常功能所必需的许多基因的表达中起关键作用。 HNF4α基因外显子7中的无意义突变(Q268X)负责非胰岛素依赖型糖尿病(年轻人的成熟型糖尿病;基因称为MODY1)的常染色体显性遗传,早发型。尽管预计该突变会删除HNF4α蛋白的187个C末端氨基酸,但其导致糖尿病的分子机制尚不清楚。为了解决这个问题,我们首先研究了MODY1突变蛋白的功能特性。

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