Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young.

Structural and functional study of the GlnB22-insulin mutant responsible for maturity-onset diabetes of the young.

The insulin gene mutation c.137G>A (R46Q), which changes an arginine at the B22 position of the mature hormone to glutamine, causes the monogenic diabetes variant maturity-onset diabetes of the young (MODY). In MODY patients, this mutation is heterozygous, and both mutant and wild-type (WT) human...

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Main Authors: Květoslava Křížková, Václav Veverka, Lenka Maletínská, Rozálie Hexnerová, Andrzej M Brzozowski, Jiří Jiráček, Lenka Žáková
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4244080?pdf=render

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http://europepmc.org/articles/PMC4244080?pdf=render

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