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Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B. Matamala N, et al. Among authors: vilar m. Am J Respir Cell Mol Biol. 2018 Jun;58(6):706-716. doi: 10.1165/rcmb.2017-0179OC. Am J Respir Cell Mol Biol. 2018. PMID: 29232161 Free article.
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. Among authors: vilar m. J Inherit Metab Dis. 2023 Nov;46(6):1170-1185. doi: 10.1002/jimd.12667. Epub 2023 Sep 11. J Inherit Metab Dis. 2023. PMID: 37540500 Free PMC article.
The transcription factor LEF1 interacts with NFIX and switches isoforms during adult hippocampal neural stem cell quiescence.
García-Corzo L, Calatayud-Baselga I, Casares-Crespo L, Mora-Martínez C, Julián Escribano-Saiz J, Hortigüela R, Asenjo-Martínez A, Jordán-Pla A, Ercoli S, Flames N, López-Alonso V, Vilar M, Mira H. García-Corzo L, et al. Among authors: vilar m. Front Cell Dev Biol. 2022 Jul 22;10:912319. doi: 10.3389/fcell.2022.912319. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 35938168 Free PMC article.
Functional and structural deficiencies of Gemin5 variants associated with neurological disorders.
Francisco-Velilla R, Embarc-Buh A, Del Caño-Ochoa F, Abellan S, Vilar M, Alvarez S, Fernandez-Jaen A, Kour S, Rajan DS, Pandey UB, Ramón-Maiques S, Martinez-Salas E. Francisco-Velilla R, et al. Among authors: vilar m. Life Sci Alliance. 2022 Apr 7;5(7):e202201403. doi: 10.26508/lsa.202201403. Print 2022 Jul. Life Sci Alliance. 2022. PMID: 35393353 Free PMC article.
Structural Basis of p75 Transmembrane Domain Dimerization.
Nadezhdin KD, García-Carpio I, Goncharuk SA, Mineev KS, Arseniev AS, Vilar M. Nadezhdin KD, et al. Among authors: vilar m. J Biol Chem. 2016 Jun 3;291(23):12346-57. doi: 10.1074/jbc.M116.723585. Epub 2016 Apr 7. J Biol Chem. 2016. PMID: 27056327 Free PMC article.
The fold of alpha-synuclein fibrils.
Vilar M, Chou HT, Lührs T, Maji SK, Riek-Loher D, Verel R, Manning G, Stahlberg H, Riek R. Vilar M, et al. Proc Natl Acad Sci U S A. 2008 Jun 24;105(25):8637-42. doi: 10.1073/pnas.0712179105. Epub 2008 Jun 12. Proc Natl Acad Sci U S A. 2008. PMID: 18550842 Free PMC article.
In vivo demonstration that alpha-synuclein oligomers are toxic.
Winner B, Jappelli R, Maji SK, Desplats PA, Boyer L, Aigner S, Hetzer C, Loher T, Vilar M, Campioni S, Tzitzilonis C, Soragni A, Jessberger S, Mira H, Consiglio A, Pham E, Masliah E, Gage FH, Riek R. Winner B, et al. Among authors: vilar m. Proc Natl Acad Sci U S A. 2011 Mar 8;108(10):4194-9. doi: 10.1073/pnas.1100976108. Epub 2011 Feb 15. Proc Natl Acad Sci U S A. 2011. PMID: 21325059 Free PMC article.
244 results