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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin |
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| Authors: | Hennies Hans Christian Kornak Uwe Zhang Haikuo Egerer Johannes Zhang Xin Seifert Wenke Kühnisch Jirko Budde Birgit Nätebus Marc Brancati Francesco Wilcox William R Müller Dietmar Kaplan Paige B Rajab Anna Zampino Giuseppe Fodale Valentina Dallapiccola Bruno Newman William Metcalfe Kay Clayton-Smith Jill Tassabehji May Steinmann Beat Barr Francis A Nürnberg Peter Wieacker Peter Mundlos Stefan |
| Institution: | Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany. |
| Abstract: | Gerodermia osteodysplastica is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues. |
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