Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
By S. Lalani, Pengfei Liu, J. Rosenfeld, L. Watkin, T. Chiang, Magalie S Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, F. Vetrini and 41 more. 2016
123 citations recorded by the source corpus.
Subfields: Cardiology and Cardiovascular Medicine, Molecular Biology, Computational Biology & Bioinformatics, Medical & Health AI
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- Miroslav P. Milev
- D. Saint-Dic
- Khashayar Zardoui
- T. Klopstock
- Christopher Law
- M. Sacher
- F. Distelmaier
Citations in the corpus
- Accurate prediction of protein structures and interactions using a 3-track neural network (2021, neutral): “By comparison, a homology model based on very distant ( 15% sequence identity) homologs had multiple alignment shifts that misplace key conserved residues (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, background): “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.”