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Projektbezogene Publikationen (Stand 2018)

D2 Zaucke-Semler

Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, Giunta C, Bergmann C, Rohrbach M, Koerber F, Zimmermann K, de Vries P, Wirth B, Schoenau E, Wollnik B, Veltman JA, Hoischen A, Netzer C 2011 Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 88(3):362-371.

Semler O, Netzer C, Hoyer-Kuhn H, Becker J, Eysel P, Schoenau E 2012 First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI. J. Musculoskelet. Neuronal Interact 12(3):183-188.

Hoyer-Kuhn H, Franklin J, Allo G, Kron M, Netzer C, Eysel P, Hero B, Schoenau E, Semler O 2016 Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial. J Musculoskelet Neuronal Interact 16(1):24-32.

Widmer C, Gebauer J, Brunstein E, Rosenbaum S, Zaucke F, Drögemüller C, Loeb T, Baumann U 2012 A molecular basis for the action of the collagen-specific chaperone Hsp47/SerpinH1 and its structure-specific client recognition. Proc Natl Acad Sci 109(33):13243-13247.

Brachvogel B*, Zaucke F*, Dave K, Norris EL, Stermann J, Dayakli M, Koch M, Gorman JJ, Bateman JF, Wilson R 2013 Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome. J Biol Chem 288(19):13481–13492.* shared first author

Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparrós-Martín JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schönau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B 2013. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet 92(4):565-74.

Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C 2015 Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet 96(3):432-439.

Schulz J, Nüchel J, Niehoff A, Bloch W, Schönborn K, Kamper M, Brinckmann J, Plomann M, Paulsson M, Krieg T, Zaucke F*, Eckes B* 2016 COMP assisted collagen secretion - a novel intracellular function required for fibrosis. J Cell Sci 129(4):706-716 *shared last author

Kamper M, Hamann N, Prein C, Clausen-Schaumann H, Farkas Z, Aszodi A, Niehoff A, Paulsson M, Zaucke F 2016 Early changes in morphology, bone mineral density and matrix composition of vertebrae lead to disc degeneration in aged collagen IX -/- mice. Matrix Biol 49:132-143

Oecal S, Socher E, Uthoff M, Ernst C, Zaucke F, Sticht H, Baumann U, Gebauer JM 2016 The pH-Dependent Client Release From the Collagen-Specific Chaperone Hsp47 is Triggered by a Tandem Histidine Pair. J Biol Chem 291(24):12612-12626.