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Disruption of CAD Oligomerization by Pathogenic Variants.
Del Caño-Ochoa F, Ramadane-Morchadi L, Eixerés L, Moreno-Morcillo M, Fernández-Leiro R, Ramón-Maiques S. Del Caño-Ochoa F, et al. J Mol Biol. 2024 Dec 1;436(23):168832. doi: 10.1016/j.jmb.2024.168832. Epub 2024 Oct 22. J Mol Biol. 2024. PMID: 39447673 Free article.
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.
Steinberg-Shemer O, Yacobovich J, Noy-Lotan S, Dgany O, Krasnov T, Barg A, Landau YE, Kneller K, Somech R, Gilad O, Brik Simon D, Orenstein N, Izraeli S, Del Caño-Ochoa F, Tamary H, Ramón-Maiques S. Steinberg-Shemer O, et al. Among authors: del cano ochoa f. Br J Haematol. 2024 Mar;204(3):1067-1071. doi: 10.1111/bjh.19215. Epub 2023 Nov 20. Br J Haematol. 2024. PMID: 37984840
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. 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.
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: del cano ochoa f. 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.
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
Briso-Montiano A, Del Caño-Ochoa F, Vilas A, Velázquez-Campoy A, Rubio V, Pérez B, Ramón-Maiques S. Briso-Montiano A, et al. Among authors: del cano ochoa f. J Inherit Metab Dis. 2022 Mar;45(2):318-333. doi: 10.1002/jimd.12461. Epub 2021 Dec 13. J Inherit Metab Dis. 2022. PMID: 34859900 Free article.
17 results