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

Hans Christian Hennies, Uwe Kornak, Haikuo Zhang, Johannes Egerer, Xin Zhang, Wenke Seifert, Jirko Kühnisch, Birgit Budde, Marc Nätebus, Francesco Brancati, William R Wilcox, Dietmar Müller, Paige B Kaplan, Anna Rajab, Giuseppe Zampino, Valentina Fodale, Bruno Dallapiccola, William Newman, Kay Metcalfe, Jill Clayton-Smith & 6 others May Tassabehji, Beat Steinmann, Francis A Barr, Peter Nürnberg, Peter Wieacker, Stefan Mundlos

Research output: Contribution to journalArticle

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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.

LanguageEnglish
Pages1410-2
Number of pages3
JournalNature Genetics
Volume40
Issue number12
Early online date9 Nov 2008
DOIs
Publication statusPublished - Dec 2008
Externally publishedYes

Fingerprint

Skin
Mutation
Secretory Pathway
Golgi Apparatus
Osteoblasts
Connective Tissue
Osteoporosis
Proteins
Gerodermia osteodysplastica

Cite this

Hennies, H. C., Kornak, U., Zhang, H., Egerer, J., Zhang, X., Seifert, W., ... Mundlos, S. (2008). Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics, 40(12), 1410-2. https://doi.org/10.1038/ng.252
Hennies, Hans Christian ; Kornak, Uwe ; Zhang, Haikuo ; Egerer, Johannes ; Zhang, Xin ; Seifert, Wenke ; Kühnisch, Jirko ; Budde, Birgit ; Nätebus, Marc ; Brancati, Francesco ; Wilcox, William R ; Müller, Dietmar ; Kaplan, Paige B ; Rajab, Anna ; Zampino, Giuseppe ; Fodale, Valentina ; Dallapiccola, Bruno ; Newman, William ; Metcalfe, Kay ; Clayton-Smith, Jill ; Tassabehji, May ; Steinmann, Beat ; Barr, Francis A ; Nürnberg, Peter ; Wieacker, Peter ; Mundlos, Stefan. / Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. In: Nature Genetics. 2008 ; Vol. 40, No. 12. pp. 1410-2.
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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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Hennies, HC, Kornak, U, Zhang, H, Egerer, J, Zhang, X, Seifert, W, Kühnisch, J, Budde, B, Nätebus, M, Brancati, F, Wilcox, WR, Müller, D, Kaplan, PB, Rajab, A, Zampino, G, Fodale, V, Dallapiccola, B, Newman, W, Metcalfe, K, Clayton-Smith, J, Tassabehji, M, Steinmann, B, Barr, FA, Nürnberg, P, Wieacker, P & Mundlos, S 2008, 'Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin', Nature Genetics, vol. 40, no. 12, pp. 1410-2. https://doi.org/10.1038/ng.252

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. / Hennies, Hans Christian; Kornak, Uwe; Zhang, Haikuo; Egerer, Johannes; Zhang, Xin; Seifert, Wenke; Kühnisch, Jirko; Budde, Birgit; Nätebus, Marc; Brancati, Francesco; Wilcox, William R; Müller, Dietmar; Kaplan, Paige B; Rajab, Anna; Zampino, Giuseppe; Fodale, Valentina; Dallapiccola, Bruno; Newman, William; Metcalfe, Kay; Clayton-Smith, Jill; Tassabehji, May; Steinmann, Beat; Barr, Francis A; Nürnberg, Peter; Wieacker, Peter; Mundlos, Stefan.

In: Nature Genetics, Vol. 40, No. 12, 12.2008, p. 1410-2.

Research output: Contribution to journalArticle

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AU - Brancati, Francesco

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AU - Müller, Dietmar

AU - Kaplan, Paige B

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