Hennies, Hans ChristianHans ChristianHenniesKornak, UweUweKornakZhang, HaikuoHaikuoZhangEgerer, JohannesJohannesEgererZhang, XinXinZhangSeifert, WenkeWenkeSeifertKühnisch, JirkoJirkoKühnischBudde, BirgitBirgitBuddeNätebus, MarcMarcNätebusBrancati, FrancescoFrancescoBrancatiWilcox, William RWilliam RWilcoxMüller, DietmarDietmarMüllerKaplan, Paige BPaige BKaplanRajab, AnnaAnnaRajabZampino, GiuseppeGiuseppeZampinoFodale, ValentinaValentinaFodaleDallapiccola, BrunoBrunoDallapiccolaNewman, WilliamWilliamNewmanMetcalfe, KayKayMetcalfeClayton-Smith, JillJillClayton-SmithTassabehji, MayMayTassabehjiSteinmann, BeatBeatSteinmannBarr, Francis AFrancis ABarrNürnberg, PeterPeterNürnbergWieacker, PeterPeterWieackerMundlos, StefanStefanMundlos2020-06-232020-06-232008-12https://resolver.sub.uni-goettingen.de/purl?gro-2/66684Gerodermia 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.enjournal_article10.1038/ng.25218997784