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.
|Titolo:||Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin|
|Data di pubblicazione:||2008|
|Appare nelle tipologie:||1.1 Articolo in rivista|