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Role of trafficking protein particle complex 2 in medaka development.
Zappa F, Intartaglia D, Guarino AM, De Cegli R, Wilson C, Salierno FG, Polishchuk E, Sorrentino NC, Conte I, De Matteis MA. Zappa F, et al. Traffic. 2024 Jan;25(1):e12924. doi: 10.1111/tra.12924. Epub 2023 Nov 14. Traffic. 2024. PMID: 37963679 Free article.
The skeletal dysplasia spondyloepiphyseal dysplasia tarda (SEDT) is caused by mutations in the TRAPPC2 gene, which encodes Sedlin, a component of the trafficking protein particle (TRAPP) complex that we have shown previously to be required for the export of t …
The skeletal dysplasia spondyloepiphyseal dysplasia tarda (SEDT) is caused by mutations in the TRAPPC2 gene, which encodes …
A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome.
Zykaj E, Abboud C, Asadi P, Warsame S, Almousa H, Milev MP, Greco BM, López-Sánchez M, Bratkovic D, Kachroo AH, Pérez-Jurado LA, Sacher M. Zykaj E, et al. Cells. 2024 Aug 30;13(17):1457. doi: 10.3390/cells13171457. Cells. 2024. PMID: 39273027 Free PMC article.
In this study, core yeast subunits were humanized by replacing them with their human orthologs, and TRAPPC1, TRAPPC2, TRAPPC2L, TRAPPC6A, and TRAPPC6B were found to successfully replace their yeast counterparts. ...
In this study, core yeast subunits were humanized by replacing them with their human orthologs, and TRAPPC1, TRAPPC2, TRAPPC2L, TRAPP …
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C, Du C, Ye J, Ye F, Wang R, Luo X, Liang Y. Zhang C, et al. BMC Med Genet. 2020 May 29;21(1):117. doi: 10.1186/s12881-020-01052-8. BMC Med Genet. 2020. PMID: 32471379 Free PMC article.
BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. ...Based on the ACMG criteria, the novel c.216_217del variant of the TRAPPC2 gene was the pathogenic va …
BACKGROUND: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutation …
A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.
Zhang L, Wang J, Dong G, Wu D, Wu W. Zhang L, et al. Medicine (Baltimore). 2021 Mar 19;100(11):e25169. doi: 10.1097/MD.0000000000025169. Medicine (Baltimore). 2021. PMID: 33726005 Free PMC article.
RATIONALE: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. ...LESSONS: The short stature i …
RATIONALE: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to m …
The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant.
Yunis JJ, Yunis LK. Yunis JJ, et al. Clin Genet. 2023 Jun;103(6):720-722. doi: 10.1111/cge.14301. Epub 2023 Jan 26. Clin Genet. 2023. PMID: 36650946
The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 frameshift variant....
The family reported to have X-linked Dyggve-Melchior-Clausen syndrome instead has X-linked SEDT caused by a novel TRAPPC2 fram …