Article

Biallelic <i>TANGO1</i> mutations cause a novel syndromal disease due to hampered cellular collagen secretion

2019-08-29

Abstract excerpt

The transport and Golgi organization 1 (TANGO1) family proteins have been shown to play pivotal roles in the secretory pathway. Full length TANGO1 is a transmembrane protein localised at endoplasmic reticulum exit sites (ERES), where it binds bulky cargo within the ER lumen and recruits membranes from the ER Golgi intermediate compartment (ERGIC) to create an exit route for their export. Tango1 knockout mice disp...

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Literature Corpus work: 2aefeed0-f261-5bbc-a7b0-cc93ca11e829
DOI: 10.1101/750349

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