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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: martinez delgado b. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Komulainen-Ebrahim J, Kangas SM, López-Martín E, Feyma T, Scaglia F, Martínez-Delgado B, Kuismin O, Suo-Palosaari M, Carr L, Hinttala R, Kurian MA, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: martinez delgado b. Mov Disord Clin Pract. 2024 May 2. doi: 10.1002/mdc3.14051. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 38698576
Human Bronchial Epithelial Cell Transcriptome Changes in Response to Serum from Patients with Different Status of Inflammation.
Sivaraman K, Liu B, Martinez-Delgado B, Held J, Büttner M, Illig T, Volland S, Gomez-Mariano G, Jedicke N, Yevsa T, Welte T, DeLuca DS, Wrenger S, Olejnicka B, Janciauskiene S. Sivaraman K, et al. Among authors: martinez delgado b. Lung. 2024 Apr;202(2):157-170. doi: 10.1007/s00408-024-00679-1. Epub 2024 Mar 17. Lung. 2024. PMID: 38494528 Free PMC article.
Plasma levels of α1-antitrypsin-derived C-terminal peptides in PiMM and PiZZ COPD patients.
Börner FR, Lechowicz U, Wrenger S, Martinez-Delgado B, Olejnicka B, Welte T, Chorostowska-Wynimko J, Kiehntopf M, Janciauskiene S. Börner FR, et al. Among authors: martinez delgado b. ERJ Open Res. 2023 Dec 4;9(6):00329-2023. doi: 10.1183/23120541.00329-2023. eCollection 2023 Nov. ERJ Open Res. 2023. PMID: 38076674 Free PMC article.
Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis.
Gomez-Mariano G, Perez-Luz S, Ramos-Del Saz S, Matamala N, Hernandez-SanMiguel E, Fernandez-Prieto M, Gil-Martin S, Justo I, Marcacuzco A, Martinez-Delgado B. Gomez-Mariano G, et al. Among authors: martinez delgado b. Int J Mol Sci. 2023 Aug 10;24(16):12645. doi: 10.3390/ijms241612645. Int J Mol Sci. 2023. PMID: 37628828 Free PMC article.
Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin.
Pérez-Luz S, Lalchandani J, Matamala N, Barrero MJ, Gil-Martín S, Saz SR, Varona S, Monzón S, Cuesta I, Justo I, Marcacuzco A, Hierro L, Garfia C, Gomez-Mariano G, Janciauskiene S, Martínez-Delgado B. Pérez-Luz S, et al. Among authors: martinez delgado b. Int J Mol Sci. 2023 Aug 5;24(15):12472. doi: 10.3390/ijms241512472. Int J Mol Sci. 2023. PMID: 37569847 Free PMC article.
92 results