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

Hennies, Hans C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., Kühnisch, J., Budde, B., Natebus, M., Brancati, F., Wilcox, W.R., Muller, 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. and Mundlos, S. (2008) Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40 (12). pp. 1410-1412. ISSN 1061-4036

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Abstract

Gerodermia osteodysplastica (GO) is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that GO is caused by loss-of-function mutations in SCYL1BP1, which is expressed at high levels in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a novel golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues.

Item Type:	Article
Additional Information:	Unmapped bibliographic data: ST - Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin [Field not mapped to EPrints] LB - 81 [Field not mapped to EPrints] RP - Not in File [Field not mapped to EPrints]
Uncontrolled Keywords:	abnormalities, Infant
Subjects:	Q Science > QH Natural history > QH301 Biology Q Science > QH Natural history > QH426 Genetics
Schools:	School of Applied Sciences
Related URLs:	Author
Depositing User:	Hans Hennies
Date Deposited:	15 Jul 2016 09:25
Last Modified:	28 Aug 2021 12:05
URI:	http://eprints.hud.ac.uk/id/eprint/28802

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