Concepedia

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Fleur S van Dijk, Oliver Semler, Julia Etich, Anna M. Köhler, Juan A. Jimenez‐Estrada, Nathalie Bravenboer, Lauria Claeys, Elise Riesebos, Sejla Gegic, Sander R. Piersma,

The American Journal of Human Genetics · 2020 · 64 citations · 16 references

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16

Rapid redistribution of Golgi proteins into the ER in cells treated with brefeldin A: Evidence for membrane cycling from Golgi to ER

Jennifer Lippincott‐Schwartz, Lydia C. Yuan, Juan S. Bonifacino et al. · Cell · 1989 · 1.7K citations · Full text

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Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott et al. · The American Journal of Human Genetics · 2010 · 359 citations · Full text

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PPIB Mutations Cause Severe Osteogenesis Imperfecta

Fleur S. van Dijk, I. M. Nesbitt, Eline H. Zwikstra et al. · The American Journal of Human Genetics · 2009 · 299 citations · Full text

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A molecular specificity code for the three mammalian KDEL receptors

Irina Raykhel, Heli I. Alanen, Kirsi E.H. Salo et al. · The Journal of Cell Biology · 2007 · 268 citations · Full text

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A traffic-activated Golgi-based signalling circuit coordinates the secretory pathway

Teodoro Pulvirenti, Monica Giannotta, Mariagrazia Capestrano et al. · Nature Cell Biology · 2008 · 218 citations

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