Concepedia

Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Lutz Garbes, Kyung‐Ho Kim, Angelika Rieß, Heike Hoyer‐Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim, Yang Hoon Huh, Hee-Seok Kweon, Ravi Savarirayan,

The American Journal of Human Genetics · 2015 · 175 citations · 22 references

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22

Osteogenesis imperfecta

Frank Rauch, Francis H. Glorieux · The Lancet · 2004 · 1.2K citations

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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

Bethan S. Jones, Emma Jones, Stephanie A. Bonney et al. · Nature Genetics · 2003 · 387 citations

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Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking

Simeon A. Boyadjiev, J. Christopher Fromme, Jin Ben et al. · Nature Genetics · 2006 · 323 citations

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Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II

Klaus Schwarz, Achille Iolascon, Fátima Verı́ssimo et al. · Nature Genetics · 2009 · 284 citations

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Structural basis of cargo membrane protein discrimination by the human COPII coat machinery

Joseph D. Mancias, Jonathan M. Goldberg · The EMBO Journal · 2008 · 220 citations · Full text

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