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Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.
Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Rodríguez de Córdoba S. Knecht E, et al. Among authors: bovolenta p. Autophagy. 2012 Apr;8(4):701-3. doi: 10.4161/auto.19522. Epub 2012 Apr 1. Autophagy. 2012. PMID: 22361617 Free article. Review.
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
Criado O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Knecht E, Rodriguez de Cordoba S. Criado O, et al. Among authors: bovolenta p. Hum Mol Genet. 2012 Apr 1;21(7):1521-33. doi: 10.1093/hmg/ddr590. Epub 2011 Dec 20. Hum Mol Genet. 2012. PMID: 22186026
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Elevated levels of Secreted-Frizzled-Related-Protein 1 contribute to Alzheimer's disease pathogenesis.
Esteve P, Rueda-Carrasco J, Inés Mateo M, Martin-Bermejo MJ, Draffin J, Pereyra G, Sandonís Á, Crespo I, Moreno I, Aso E, Garcia-Esparcia P, Gomez-Tortosa E, Rábano A, Fortea J, Alcolea D, Lleo A, Heneka MT, Valpuesta JM, Esteban JA, Ferrer I, Domínguez M, Bovolenta P. Esteve P, et al. Among authors: bovolenta p. Nat Neurosci. 2019 Aug;22(8):1258-1268. doi: 10.1038/s41593-019-0432-1. Epub 2019 Jul 15. Nat Neurosci. 2019. PMID: 31308530 Free article.
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, Rodríguez de Córdoba S. Gallardo ME, et al. Among authors: bovolenta p. Genomics. 1999 Oct 1;61(1):82-91. doi: 10.1006/geno.1999.5916. Genomics. 1999. PMID: 10512683
136 results