- 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.
- Publisher copy:
- 10.1038/ng.252
-
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- Journal:
- Nature genetics
- Volume:
- 40
- Issue:
- 12
- Pages:
- 1410-1412
- Publication date:
- 2008-12-05
- DOI:
- EISSN:
-
1546-1718
- ISSN:
-
1061-4036
- URN:
-
uuid:5c53cc9a-5645-4612-9e7a-06d981c75030
- Source identifiers:
-
310268
- Local pid:
- pubs:310268
- Language:
- English
- Keywords:
- Copyright date:
- 2008
Journal article
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
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