Associated Papers
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
In Silico Identification of a Key Residue for Substrate Recognition of the Riboflavin Membrane Transporter RFVT3.
Dilly S et al.
Journal of Chemical Information and Modeling, 2020
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
Bosch AM et al.
Orphanet Journal of Rare Diseases, 2012
Four novel C20orf54 mutations identified in Brown-Vialetto-Van Laere syndrome patients.
Dezfouli MA et al.
Journal of Human Genetics, 2012
Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).
Nabokina SM et al.
Molecular Genetics and Metabolism, 2012
Role of cysteine residues in cell surface expression of the human riboflavin transporter-2 (hRFT2) in intestinal epithelial cells.
Subramanian VS et al.
American Journal of Physiology. Gastrointestinal and Liver Physiology, 2011
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
Green P et al.
American Journal of Human Genetics, 2010
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