CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez-Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; Jaak Jaeken; Nathalie Guffon; David Cheillan; Lambertus P. van den Heuvel; Yusuke Maeda; Olaf Kaiser; Ulrike Schara; Patrick Gerner; Marjolein A. W. van den Boogert; Adriaan G. Holleboom; Marie-Cecile Nassogne; Etienne Sokal; Jody Salomon; Geert van den Bogaart; Joost P. H. Drenth; Martijn A. Huynen; Joris A. Veltman; Ron A. Wevers; Eva Morava; Gert Matthijs; Francois Foulquier; Thorsten Marquardt; Dirk J. Lefeber

doi:10.1016/j.ajhg.2015.12.010

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Cirak, Monique van Scherpenzeel, Sharita Timal, Janine Reunert, Stephan Rust, Belen Perez, Dorothee Vicogne, Peter Krawitz, Yoshinao Wada, Angel Ashikov, Celia Perez-Cerda, Celia Medrano, Andrea Arnoldy, Alexander Hoischen, Karin Huijben, Gerry Steenbergen, Dulce Quelhas, Luisa Diogo, Daisy RymenJaak Jaeken, Nathalie Guffon, David Cheillan, Lambertus P. van den Heuvel, Yusuke Maeda, Olaf Kaiser, Ulrike Schara, Patrick Gerner, Marjolein A. W. van den Boogert, Adriaan G. Holleboom, Marie-Cecile Nassogne, Etienne Sokal, Jody Salomon, Geert van den Bogaart, Joost P. H. Drenth, Martijn A. Huynen, Joris A. Veltman, Ron A. Wevers, Eva Morava, Gert Matthijs, Francois Foulquier, Thorsten Marquardt, Dirk J. Lefeber

Research output: Contribution to journal › Article › Academic › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	310-321
Journal	American Journal of Human Genetics
Volume	98
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2015.12.010
Publication status	Published - 4 Feb 2016

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10.1016/j.ajhg.2015.12.010

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Jansen, J. C., Cirak, S., van Scherpenzeel, M., Timal, S., Reunert, J., Rust, S., Perez, B., Vicogne, D., Krawitz, P., Wada, Y., Ashikov, A., Perez-Cerda, C., Medrano, C., Arnoldy, A., Hoischen, A., Huijben, K., Steenbergen, G., Quelhas, D., Diogo, L., ... Lefeber, D. J. (2016). CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. American Journal of Human Genetics, 98(2), 310-321. https://doi.org/10.1016/j.ajhg.2015.12.010

Jansen, Jos C. ; Cirak, Sebahattin ; van Scherpenzeel, Monique ; Timal, Sharita ; Reunert, Janine ; Rust, Stephan ; Perez, Belen ; Vicogne, Dorothee ; Krawitz, Peter ; Wada, Yoshinao ; Ashikov, Angel ; Perez-Cerda, Celia ; Medrano, Celia ; Arnoldy, Andrea ; Hoischen, Alexander ; Huijben, Karin ; Steenbergen, Gerry ; Quelhas, Dulce ; Diogo, Luisa ; Rymen, Daisy ; Jaeken, Jaak ; Guffon, Nathalie ; Cheillan, David ; van den Heuvel, Lambertus P. ; Maeda, Yusuke ; Kaiser, Olaf ; Schara, Ulrike ; Gerner, Patrick ; van den Boogert, Marjolein A. W. ; Holleboom, Adriaan G. ; Nassogne, Marie-Cecile ; Sokal, Etienne ; Salomon, Jody ; van den Bogaart, Geert ; Drenth, Joost P. H. ; Huynen, Martijn A. ; Veltman, Joris A. ; Wevers, Ron A. ; Morava, Eva ; Matthijs, Gert ; Foulquier, Francois ; Marquardt, Thorsten ; Lefeber, Dirk J. / CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. In: American Journal of Human Genetics. 2016 ; Vol. 98, No. 2. pp. 310-321.

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title = "CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation",

author = "Jansen, {Jos C.} and Sebahattin Cirak and {van Scherpenzeel}, Monique and Sharita Timal and Janine Reunert and Stephan Rust and Belen Perez and Dorothee Vicogne and Peter Krawitz and Yoshinao Wada and Angel Ashikov and Celia Perez-Cerda and Celia Medrano and Andrea Arnoldy and Alexander Hoischen and Karin Huijben and Gerry Steenbergen and Dulce Quelhas and Luisa Diogo and Daisy Rymen and Jaak Jaeken and Nathalie Guffon and David Cheillan and {van den Heuvel}, {Lambertus P.} and Yusuke Maeda and Olaf Kaiser and Ulrike Schara and Patrick Gerner and {van den Boogert}, {Marjolein A. W.} and Holleboom, {Adriaan G.} and Marie-Cecile Nassogne and Etienne Sokal and Jody Salomon and {van den Bogaart}, Geert and Drenth, {Joost P. H.} and Huynen, {Martijn A.} and Veltman, {Joris A.} and Wevers, {Ron A.} and Eva Morava and Gert Matthijs and Francois Foulquier and Thorsten Marquardt and Lefeber, {Dirk J.}",

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doi = "10.1016/j.ajhg.2015.12.010",

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journal = "American Journal of Human Genetics",

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Jansen, JC, Cirak, S, van Scherpenzeel, M, Timal, S, Reunert, J, Rust, S, Perez, B, Vicogne, D, Krawitz, P, Wada, Y, Ashikov, A, Perez-Cerda, C, Medrano, C, Arnoldy, A, Hoischen, A, Huijben, K, Steenbergen, G, Quelhas, D, Diogo, L, Rymen, D, Jaeken, J, Guffon, N, Cheillan, D, van den Heuvel, LP, Maeda, Y, Kaiser, O, Schara, U, Gerner, P, van den Boogert, MAW, Holleboom, AG, Nassogne, M-C, Sokal, E, Salomon, J, van den Bogaart, G, Drenth, JPH, Huynen, MA, Veltman, JA, Wevers, RA, Morava, E, Matthijs, G, Foulquier, F, Marquardt, T & Lefeber, DJ 2016, 'CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation', American Journal of Human Genetics, vol. 98, no. 2, pp. 310-321. https://doi.org/10.1016/j.ajhg.2015.12.010

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. / Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Perez, Belen; Vicogne, Dorothee; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Perez-Cerda, Celia; Medrano, Celia; Arnoldy, Andrea; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; Quelhas, Dulce; Diogo, Luisa; Rymen, Daisy; Jaeken, Jaak; Guffon, Nathalie; Cheillan, David; van den Heuvel, Lambertus P.; Maeda, Yusuke; Kaiser, Olaf; Schara, Ulrike; Gerner, Patrick; van den Boogert, Marjolein A. W.; Holleboom, Adriaan G.; Nassogne, Marie-Cecile; Sokal, Etienne; Salomon, Jody; van den Bogaart, Geert; Drenth, Joost P. H.; Huynen, Martijn A.; Veltman, Joris A.; Wevers, Ron A.; Morava, Eva; Matthijs, Gert; Foulquier, Francois; Marquardt, Thorsten; Lefeber, Dirk J.

In: American Journal of Human Genetics, Vol. 98, No. 2, 04.02.2016, p. 310-321.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

AU - Jansen, Jos C.

AU - Cirak, Sebahattin

AU - van Scherpenzeel, Monique

AU - Timal, Sharita

AU - Reunert, Janine

AU - Rust, Stephan

AU - Perez, Belen

AU - Vicogne, Dorothee

AU - Krawitz, Peter

AU - Wada, Yoshinao

AU - Ashikov, Angel

AU - Perez-Cerda, Celia

AU - Medrano, Celia

AU - Arnoldy, Andrea

AU - Hoischen, Alexander

AU - Huijben, Karin

AU - Steenbergen, Gerry

AU - Quelhas, Dulce

AU - Diogo, Luisa

AU - Rymen, Daisy

AU - Jaeken, Jaak

AU - Guffon, Nathalie

AU - Cheillan, David

AU - van den Heuvel, Lambertus P.

AU - Maeda, Yusuke

AU - Kaiser, Olaf

AU - Schara, Ulrike

AU - Gerner, Patrick

AU - van den Boogert, Marjolein A. W.

AU - Holleboom, Adriaan G.

AU - Nassogne, Marie-Cecile

AU - Sokal, Etienne

AU - Salomon, Jody

AU - van den Bogaart, Geert

AU - Drenth, Joost P. H.

AU - Huynen, Martijn A.

AU - Veltman, Joris A.

AU - Wevers, Ron A.

AU - Morava, Eva

AU - Matthijs, Gert

AU - Foulquier, Francois

AU - Marquardt, Thorsten

AU - Lefeber, Dirk J.

PY - 2016/2/4

Y1 - 2016/2/4

U2 - 10.1016/j.ajhg.2015.12.010

DO - 10.1016/j.ajhg.2015.12.010

M3 - Article

VL - 98

SP - 310

EP - 321

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 2

ER -