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Article

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

eLife - 26 Feb 2020

Lekszas Caroline, Foresti Ombretta, Raote Ishier, Liedtke Daniel, König Eva-Maria, Nanda Indrajit, Vona Barbara, De Coster Peter, Cauwels Rita, Malhotra Vivek, Haaf Thomas

Abstract excerpt

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 compartment to create an exit route for their export. Here we report the first TANGO1-associated syndrome in...

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Share to Aryl Hydrocarbon Receptor Nuclear Translocator
Share to Cell Line, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Enhancer Elements, Genetic

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Identifiers

PMID: 32101163
DOI: 10.7554/eLife.51319
PMCID: PMC7062462

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