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


Hennies, H C; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kühnisch, J; Budde, B; Nätebus, M; Brancati, F; Wilcox, W R; Müller, D; Kaplan, P B; Rajab, A; Zampino, G; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; Clayton-Smith, J; Tassabehji, M; Steinmann, B; Barr, F A; Nürnberg, P; Wieacker, P; Mundlos, S (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40(12):1410-1412.

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.

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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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2008
Deposited On:24 Feb 2009 19:40
Last Modified:05 Apr 2016 13:00
Publisher:Nature Publishing Group
ISSN:1061-4036
Publisher DOI:https://doi.org/10.1038/ng.252
PubMed ID:18997784

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