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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Veröffentlicht in:	eLife Jg. 9
Hauptverfasser:	Lekszas, Caroline, Foresti, Ombretta, Raote, Ishier, Liedtke, Daniel, König, Eva-Maria, Nanda, Indrajit, Vona, Barbara, De Coster, Peter, Cauwels, Rita, Malhotra, Vivek, Haaf, Thomas
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England eLife Science Publications, Ltd 26.02.2020 eLife Sciences Publications Ltd eLife Sciences Publications, Ltd
Schlagworte:	Alleles Ankylosing spondylitis Aryl Hydrocarbon Receptor Nuclear Translocator - genetics Binding sites Cell Biology Cell Line, Tumor collage secretion Collagen Collagen (type I) Collagen - metabolism Dentinogenesis Dentinogenesis imperfecta Diabetes Diabetes mellitus Diabetes mellitus (insulin dependent) Disabilities Diseases Displays (Marketing) Endoplasmic reticulum Endoplasmic Reticulum - metabolism Enhancer Elements, Genetic Exons Families & family life Family Genetic aspects Golgi apparatus Golgi Apparatus - metabolism Hearing loss Human Biology and Medicine Humans Insulin Intellectual disabilities Messenger RNA mRNA Musculoskeletal abnormalities Mutation Parents & parenting Protein Transport Proteins Pruritus RNA Scoliosis Secretion Short Report Short stature TANGO1 Whole Exome Sequencing California dentinogenesis imperfecta human biology cell biology TANGO1 diabetes mellitus medicine human collage secretion
ISSN:	2050-084X, 2050-084X
Online-Zugang:	Volltext
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