Associated Papers
First Case of a Dominant De Novo SEC23A Mutation with Neurological and Psychiatric Features: New Insights into Cranio-Lenticulo-Sutural Dysplasia with Literature Review.
Minale EMP et al.
Genes, 2024
Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients.
Wang Q et al.
Bmc Medical Genomics, 2023
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia.
Cisarova K et al.
American Journal of Medical Genetics. Part A, 2022
Craniofacial Diseases Caused by Defects in Intracellular Trafficking.
Lu CL et al.
Genes, 2021
Somatic overgrowth associated with homozygous mutations in both MAN1B1 and SEC23A.
Gupta S et al.
Cold Spring Harbor Molecular Case Studies, 2016
Neural tube opening and abnormal extraembryonic membrane development in SEC23A deficient mice.
Zhu M et al.
Scientific Reports, 2015
The endoplasmic reticulum coat protein II transport machinery coordinates cellular lipid secretion and cholesterol biosynthesis.
Fryer LG et al.
The Journal of Biological Chemistry, 2014
Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases.
Unlu G et al.
The International Journal of Biochemistry & Cell Biology, 2014
Inherited hematological disorders due to defects in coat protein (COP)II complex.
Russo R et al.
American Journal of Hematology, 2013
Sec13 safeguards the integrity of the endoplasmic reticulum and organogenesis of the digestive system in zebrafish.
Niu X et al.
Developmental Biology, 2012
The [corrected] SEC23-SEC31 [corrected] interface plays critical role for export of procollagen from the endoplasmic reticulum.
Kim SD et al.
The Journal of Biological Chemistry, 2012
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretion.
Boyadjiev SA et al.
Clinical Genetics, 2011
Efficient coupling of Sec23-Sec24 to Sec13-Sec31 drives COPII-dependent collagen secretion and is essential for normal craniofacial development.
Townley AK et al.
Journal of Cell Science, 2008
The genetic basis of a craniofacial disease provides insight into COPII coat assembly.
Fromme JC et al.
Developmental Cell, 2007
Insights into COPII coat nucleation from the structure of Sec23.Sar1 complexed with the active fragment of Sec31.
Bi X et al.
Developmental Cell, 2007
Cargos and genes: insights into vesicular transport from inherited human disease.
Gissen P et al.
Journal of Medical Genetics, 2007
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking.
Boyadjiev SA et al.
Nature Genetics, 2006