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Page 1
Human skeletal myopathy myosin mutations disrupt myosin head sequestration.
Carrington G, Hau A, Kosta S, Dugdale HF, Muntoni F, D'Amico A, Van den Bergh P, Romero NB, Malfatti E, Vilchez JJ, Oldfors A, Pajusalu S, Õunap K, Giralt-Pujol M, Zanoteli E, Campbell KS, Iwamoto H, Peckham M, Ochala J. Carrington G, et al. Among authors: vilchez jj. JCI Insight. 2023 Nov 8;8(21):e172322. doi: 10.1172/jci.insight.172322. JCI Insight. 2023. PMID: 37788100 Free PMC article.
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
Ranu N, Laitila J, Dugdale HF, Mariano J, Kolb JS, Wallgren-Pettersson C, Witting N, Vissing J, Vilchez JJ, Fiorillo C, Zanoteli E, Auranen M, Jokela M, Tasca G, Claeys KG, Voermans NC, Palmio J, Huovinen S, Moggio M, Beck TN, Kontrogianni-Konstantopoulos A, Granzier H, Ochala J. Ranu N, et al. Among authors: vilchez jj. Acta Neuropathol Commun. 2022 Dec 17;10(1):185. doi: 10.1186/s40478-022-01491-9. Acta Neuropathol Commun. 2022. PMID: 36528760 Free PMC article.
CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.
Poyatos-García J, Blázquez-Bernal Á, Selva-Giménez M, Bargiela A, Espinosa-Espinosa J, Vázquez-Manrique RP, Bigot A, Artero R, Vilchez JJ. Poyatos-García J, et al. Among authors: vilchez jj. Mol Ther Nucleic Acids. 2023 Jan 11;31:324-338. doi: 10.1016/j.omtn.2023.01.004. eCollection 2023 Mar 14. Mol Ther Nucleic Acids. 2023. PMID: 36789274 Free PMC article.
Disseminated toxoplasma infection after hematopoietic stem cell transplantation with myositis and encephalitis.
Asensi Cantó P, Mayordomo E, Dorado A, Villalba M, Mañez RB, González E, Salavert M, Facal A, Chorão P, Balaguer A, Sivera R, Montoro J, Vilchez JJ, Piñana JL, Sanz M, Sanz J, Muelas N, Guerreiro M. Asensi Cantó P, et al. Among authors: vilchez jj. Transpl Infect Dis. 2023 Aug;25(4):e14067. doi: 10.1111/tid.14067. Epub 2023 May 13. Transpl Infect Dis. 2023. PMID: 37177901 No abstract available.
AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action.
Cerro-Herreros E, Núñez-Manchón J, Naldaiz-Gastesi N, Carrascosa-Sàez M, García-Rey A, Losilla DP, González-Martínez I, Espinosa-Espinosa J, Moreno K, Poyatos-García J, Vilchez JJ, de Munain AL, Suelves M, Nogales-Gadea G, Llamusí B, Artero R. Cerro-Herreros E, et al. Among authors: vilchez jj. Sci Adv. 2024 Oct 11;10(41):eadn6525. doi: 10.1126/sciadv.adn6525. Epub 2024 Oct 9. Sci Adv. 2024. PMID: 39383229 Free PMC article.
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model.
Poyatos-García J, Soblechero-Martín P, Liquori A, López-Martínez A, Maestre P, González-Romero E, Vázquez-Manrique RP, Muelas N, García-García G, Ohana J, Arechavala-Gomeza V, Vílchez JJ. Poyatos-García J, et al. Among authors: vilchez jj. Skelet Muscle. 2024 Oct 1;14(1):21. doi: 10.1186/s13395-024-00353-3. Skelet Muscle. 2024. PMID: 39354597 Free PMC article.
156 results