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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L. Iruzubieta P, et al. Among authors: de sancho d. Brain. 2024 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print. Brain. 2024. PMID: 38366623
High-throughput virtual search of small molecules for controlling the mechanical stability of human CD4.
Reifs A, Fernandez-Calvo A, Alonso-Lerma B, Schönfelder J, Franco D, Ortega-Muñoz M, Casares S, Jimenez-Lopez C, Saa L, Cortajarena AL, De Sancho D, San Sebastian E, Perez-Jimenez R. Reifs A, et al. Among authors: de sancho d. J Biol Chem. 2024 Apr;300(4):107133. doi: 10.1016/j.jbc.2024.107133. Epub 2024 Mar 2. J Biol Chem. 2024. PMID: 38432632 Free PMC article.
Titin domains with reduced core hydrophobicity cause dilated cardiomyopathy.
Martinez-Martin I, Crousilles A, Ochoa JP, Velazquez-Carreras D, Mortensen SA, Herrero-Galan E, Delgado J, Dominguez F, Garcia-Pavia P, de Sancho D, Wilmanns M, Alegre-Cebollada J. Martinez-Martin I, et al. Among authors: de sancho d. Cell Rep. 2023 Dec 26;42(12):113490. doi: 10.1016/j.celrep.2023.113490. Epub 2023 Dec 4. Cell Rep. 2023. PMID: 38052212 Free article.
51 results