Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. TRAPPC4, like its yeast Trs23 orthologue, is a core component of the TRAPP complexes and one of the essential subunits for guanine nucleotide exchange factor activity for Rab1 G...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Brain
Asıl Yazarlar: Van Bergen, Nicole J, Guo, Yiran, Al-Deri, Noraldin, Lipatova, Zhanna, Stanga, Daniela, Zhao, Sarah, Murtazina, Rakhilya, Gyurkovska, Valeriya, Pehlivan, Davut, Mitani, Tadahiro, Gezdirici, Alper, Antony, Jayne, Collins, Felicity, Willis, Mary J H, Coban Akdemir, Zeynep H, Liu, Pengfei, Punetha, Jaya, Hunter, Jill V, Jhangiani, Shalini N, Fatih, Jawid M, Rosenfeld, Jill A, Posey, Jennifer E, Gibbs, Richard A, Karaca, Ender, Massey, Sean, Ranasinghe, Thisara G, Sleiman, Patrick, Troedson, Chris, Lupski, James R, Sacher, Michael, Segev, Nava, Hakonarson, Hakon, Christodoulou, John
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
Original Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6935753/
https://ncbi.nlm.nih.gov/pubmed/31794024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awz374
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