Article
Tissue-specific changes in the hydroxylysine content and cross-links of collagens and alterations in fibril morphology in lysyl hydroxylase 1 knock-out mice.
The Journal of biological chemistry - 2 Mar 2007
Takaluoma Kati, Hyry Marjo, Lantto Juha, Sormunen Raija, Bank Ruud A, Kivirikko Kari I, Myllyharju Johanna, Soininen Raija
Abstract excerpt
We have generated mice with targeted inactivation of the Plod1 gene for lysyl hydroxylase 1 (LH1). Its human mutations cause Ehlers-Danlos syndrome VIA (EDS VIA) characterized by muscular hypotonia, joint laxity, and kyphoscoliosis. The Plod1(-/-) mice are flaccid and have gait abnormalities. About 15% of them died because of aortic rupture and smooth muscle cells in non-ruptured Plod1(-/-) aortas showed...
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