Associated Papers
A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda.
Yasar D et al.
Molecular Syndromology, 2025
A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.
Zhang L et al.
Medicine, 2021
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C et al.
Bmc Medical Genetics, 2020
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
Won JY et al.
Bmc Medical Genetics, 2019
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts.
Milev MP et al.
Journal of Medical Genetics, 2018
In sickness and in health: the role of TRAPP and associated proteins in disease.
Brunet S et al.
Traffic (copenhagen, Denmark), 2014
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.
Xia XY et al.
Genetics and Molecular Research : Gmr, 2014
A trs20 mutation that mimics an SEDT-causing mutation blocks selective and non-selective autophagy: a model for TRAPP III organization.
Brunet S et al.
Traffic (copenhagen, Denmark), 2013
Trs20 is required for TRAPP II assembly.
Taussig D et al.
Traffic (copenhagen, Denmark), 2013
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
Zong M et al.
Plos One, 2011
Molecular architecture of the TRAPPII complex and implications for vesicle tethering.
Yip CK et al.
Nature Structural & Molecular Biology, 2010
SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
Jeyabalan J et al.
Plos One, 2010
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.
Choi MY et al.
The Biochemical Journal, 2009
Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not.
Gécz J et al.
Gene, 2003
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
Shaw MA et al.
Clinical Genetics, 2003
Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.
Jang SB et al.
The Journal of Biological Chemistry, 2002
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK et al.
American Journal of Human Genetics, 2001
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