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Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

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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Publisher copy:
10.1038/ng.252

Authors


Hennies, HC More by this author
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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

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