Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

The transport and Golgi organization 1 (TANGO1) proteins play pivotal roles in the secretory pathway. Full length TANGO1 is a transmembrane protein localised at endoplasmic reticulum (ER) exit sites, where it binds bulky cargo within the ER lumen and recruits membranes from the ER Golgi intermediate...

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Detalles Bibliográficos
Autores principales: Lekszas, Caroline, Foresti, Ombretta, Raote, Ishier, Liedtke, Daniel, König, Eva-Maria, Nanda, Indrajit, Vona, Barbara, De Coster, Peter, Cauwels, Rita, Malhotra, Vivek, Haaf, Thomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2020
Materias:
Cell Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062462/
https://www.ncbi.nlm.nih.gov/pubmed/32101163
http://dx.doi.org/10.7554/eLife.51319

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