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- PMID: 18997784
- UKPMCID: 18997784
- DOI: 10.1038/ng.252
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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
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
Nature genetics. 2008;40(12):1410-2.
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Full-text held externally
- PMID: 18997784
- UKPMCID: 18997784
- DOI: 10.1038/ng.252
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.
Bibliographic metadata
- 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