Associated Papers
Interaction between the TBC1D24 TLDc domain and the KIBRA C2 domain is disrupted by two epilepsy-associated TBC1D24 missense variants.
Tona R et al.
The Journal of Biological Chemistry, 2024
39214300 (PubMed )
Supplement: mmc1.docx
Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics.
Hopkins CE et al.
Molecular Aspects of Medicine, 2023
The evolutionary conserved TLDc domain defines a new class of (H+)V-ATPase interacting proteins.
Eaton AF et al.
Scientific Reports, 2021
34811399 (PubMed )
Supplement: 41598_2021_1809_MOESM1_ESM.pdf
Crystal structure of the TLDc domain of human NCOA7-AS.
Arnaud-Arnould M et al.
Acta Crystallographica. Section F, Structural Biology Communications, 2021
Genetic updates on paroxysmal dyskinesias.
Liao JY et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
Lüthy K et al.
Brain : a Journal of Neurology, 2019
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