Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

By L. Kremer, F. Distelmaier, B. Alhaddad, M. Hempel, Arcangela Iuso, C. Küpper, C. Mühlhausen, Réka Kovács-Nagy, R. Satanovskij, E. Graf and 11 more. 2016

97 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Clinical Biochemistry, Molecular Biology, Computational Biology & Bioinformatics, Medical & Health AI

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

1. Miroslav P. Milev
2. D. Saint-Dic
3. Khashayar Zardoui
4. T. Klopstock
5. Christopher Law
6. M. Sacher
7. F. Distelmaier

Citations in the corpus

• Accurate prediction of protein structures and interactions using a 3-track neural network (2021, neutral): “3A) with well-aligned active-site residues that are conserved in TANGO2 orthologs (Fig.”
• The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria (2020, methodology): “Studies on humans harboring variants in TANGO2 have revealed subtle or no effects on Golgi morphology or membrane trafficking.(1,2,6,7) One study addressed localization of the protein but concluded that it does not localize to either the Golgi or the mitochondria.”