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Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S, López-Viñas E, Mir C, Puisac B, Gratacós E, Arnedo M, Carrasco P, Moreno S, Ramos M, Gil MC, Pié A, Ribes A, Pérez-Cerda C, Ugarte M, Clayton PT, Korman SH, Serra D, Asins G, Ramos FJ, Gómez-Puertas P, Hegardt FG, Casals N, Pié J. Menao S, et al. Among authors: mir c. Hum Mutat. 2009 Mar;30(3):E520-9. doi: 10.1002/humu.20966. Hum Mutat. 2009. PMID: 19177531
Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.
Puisac B, López-Viñas E, Moreno S, Mir C, Pérez-Cerdá C, Menao S, Lluch D, Pié A, Gómez-Puertas P, Casals N, Ugarte M, Hegardt F, Pié J. Puisac B, et al. Among authors: mir c. Biophys Chem. 2005 Apr 1;115(2-3):241-5. doi: 10.1016/j.bpc.2004.12.031. Epub 2005 Jan 6. Biophys Chem. 2005. PMID: 15752612
Structural (betaalpha)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase.
Casals N, Gómez-Puertas P, Pié J, Mir C, Roca R, Puisac B, Aledo R, Clotet J, Menao S, Serra D, Asins G, Till J, Elias-Jones AC, Cresto JC, Chamoles NA, Abdenur JE, Mayatepek E, Besley G, Valencia A, Hegardt FG. Casals N, et al. Among authors: mir c. J Biol Chem. 2003 Aug 1;278(31):29016-23. doi: 10.1074/jbc.M304276200. Epub 2003 May 13. J Biol Chem. 2003. PMID: 12746442 Free article.
Genetic basis of mitochondrial HMG-CoA synthase deficiency.
Aledo R, Zschocke J, Pié J, Mir C, Fiesel S, Mayatepek E, Hoffmann GF, Casals N, Hegardt FG. Aledo R, et al. Among authors: mir c. Hum Genet. 2001 Jul;109(1):19-23. doi: 10.1007/s004390100554. Hum Genet. 2001. PMID: 11479731
Frailty and Renal Cell Carcinoma: Integration of Comprehensive Geriatric Assessment into Shared Decision-making.
Pecoraro A, Testa GD, Marandino L, Albiges L, Bex A, Capitanio U, Cappiello I, Masieri L, Mir C, Roupret M, Serni S, Ungar A, Rivasi G, Campi R. Pecoraro A, et al. Among authors: mir c. Eur Urol Oncol. 2024 Sep 20:S2588-9311(24)00210-4. doi: 10.1016/j.euo.2024.09.001. Online ahead of print. Eur Urol Oncol. 2024. PMID: 39306584 Free article. Review.
Bladder-sparing Therapy for Bacillus Calmette-Guérin-unresponsive Non-muscle-invasive Bladder Cancer: International Bladder Cancer Group Recommendations for Optimal Sequencing and Patient Selection.
Li R, Hensley PJ, Gupta S, Al-Ahmadie H, Babjuk M, Black PC, Brausi M, Bree KK, Fernández MI, Guo CC, Horowitz A, Lamm DL, Lerner SP, Lotan Y, Mariappan P, McConkey D, Mertens LS, Mir C, Ross JS, O'Donnell M, Palou J, Pohar K, Steinberg G, Soloway M, Spiess PE, Svatek RS, Tan WS, Taoka R, Buckley R, Kamat AM. Li R, et al. Among authors: mir c. Eur Urol. 2024 Aug 24:S0302-2838(24)02516-8. doi: 10.1016/j.eururo.2024.08.001. Online ahead of print. Eur Urol. 2024. PMID: 39183090 Review.
88 results