Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.
Posttranslational cleavage of proinsulin is blocked by a point mutation in familial hyperproinsulinemia.
复制标题
家族性高胰岛素原血症中的点突变阻断了胰岛素原的翻译后裂解。
DOI：
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发表时间：
1985
影响因子：
15.9
通讯作者：
F. Takaku
中科院分区：
文献类型：
--
作者：
Y. Shibasaki;T. Kawakami;Y. Kanazawa;Y. Akanuma;F. Takaku
Familial hyperproinsulinemia is characterized by the accumulation of proinsulin-like material (PLM) in the plasma of affected patients. This disorder is inherited in an autosomal dominant fashion. The accumulation of PLM is thought to be due to the impaired conversion of proinsulin to insulin. Although PLM has been suggested to have an amino acid substitution, it has been impossible to locate and identify a substituted amino acid, due to the difficulty in isolating sufficient amounts of PLM from plasma samples. Therefore, we analyzed leukocyte DNA from one member of a proinsulinemic family, and we found a point mutation that changed guanine to adenine in the insulin gene. This transition implies that a substitution of histidine for arginine has occurred at amino acid position 65. Furthermore, it indicates that arginine at 65 is essential for the conversion of proinsulin to insulin. Our results suggest a novel mechanism by which disease can be incurred: a heritable disorder can result from a posttranslational processing abnormality caused by a point mutation.
影响因子：
158.5
作者：
GRUPPUSO, PA;GORDEN, P;SCHWARTZ, R
通讯作者：
SCHWARTZ, R
DOI：
10.1172/jci111264
发表时间：
1984
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Robbins,DC;Shoelson,SE;Rubenstein,AH;Tager,HS
通讯作者：
Tager,HS
突变型人胰岛素基因的研究：编码[SerB24]胰岛素的基因的鉴定和序列分析。
DOI：
10.1073/pnas.80.20.6366
发表时间：
1983
影响因子：
11.1
作者：
Haneda,M;Chan,SJ;Kwok,SC;Rubenstein,AH;Steiner,DF
通讯作者：
Steiner,DF