Article
CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients.
Proceedings of the National Academy of Sciences of the United States of America - 15 Jul 2014
Fløyel Tina, Brorsson Caroline, Nielsen Lotte B, Miani Michela, Bang-Berthelsen Claus Heiner, Friedrichsen Martin, Overgaard Anne Julie, Berchtold Lukas A, Wiberg Anna, Poulsen Pernille, Hansen Lars, Rosinger Silke, Boehm Bernhard O, Ram Ramesh, Nguyen Quang, Mehta Munish, Morahan Grant, Concannon Patrick, Bergholdt Regine, Nielsen Jens H, Reinheckel Thomas, von Herrath Matthias, Vaag Allan, Eizirik Decio Laks, Mortensen Henrik B, Størling Joachim, Pociot Flemming
Abstract excerpt
Over 40 susceptibility loci have been identified for type 1 diabetes (T1D). Little is known about how these variants modify disease risk and progression. Here, we combined in vitro and in vivo experiments with clinical studies to determine how genetic variation of the candidate gene cathepsin H (CTSH) affects disease mechanisms and progression in T1D. The T allele of rs3825932 was associated with lower CTSH...
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