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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Brain
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2020
Matèries:
Original Articles
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars