Corrective effects of hepatotoxicity by hepatic Dyrk1a gene delivery in mice with intermediate hyperhomocysteinemia

Autor: Alizée Latour, Sacha Salameh, Christel Carbonne, Fabrice Daubigney, Jean-Louis Paul, Micheline Kergoat, Valérie Autier, Jean-Maurice Delabar, Bart De Geest, Nathalie Janel

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 51-60 (2015)

Hyperhomocysteinemia results from hepatic metabolism dysfunction and is characterized by a high plasma homocysteine level, which is also an independent risk factor for cardiovascular disease. Elevated levels of homocysteine in plasma lead to hepatic

Externí odkaz: https://doaj.org/article/52a5c705baee415583f8516c24f2a8e4

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

Autor: Yann Herault, Véronique Brault, Marie-Christine Birling, Spiros D. Garbis, Tania Sorg, Eugene Yu, Antigoni Manousopoulou, Valérie Lalanne, Guillaume Pavlovic, Javier Flores-Gutiérrez, Loic Lindner, Giovanni Iacono, Thu Lan Nguyen, Hamid Meziane, Mohammed Selloum

Publikováno v: PLoS Genetics
PLoS Genetics, Public Library of Science, 2021, 17, ⟨10.1371/journal.pgen.1009777⟩
PLoS Genetics, Vol 17, Iss 9, p e1009777 (2021)
Plos Genetics, 17, 9, pp. 1-34
PLoS Genetics, Public Library of Science, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩
Plos Genetics, 17, 1-34
bioRxiv

Perturbation of the excitation/inhibition (E/I) balance leads to neurodevelopmental diseases including to autism spectrum disorders, intellectual disability, and epilepsy. Loss-of-function mutations in the DYRK1A gene, located on human chromosome 21

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96524bfeac6a23e89b22edee131011f2
https://hal.archives-ouvertes.fr/hal-03373419/document

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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

Autor: Evers, JMG, Laskowski, RA, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, JA, Kingston, H, Kini, U, Lampe, AK, Lim, D, Male, A, Naik, S, Parker, MJ, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, JM, DDD Study, Wright, CF

Publikováno v: Human Molecular Genetics
Evers, J M G, Laskowski, R A, Bertolli, M, Clayton-Smith, J, Deshpande, C, Eason, J, Elmslie, F, Flinter, F, Gardiner, C, Hurst, J A, Kingston, H, Kini, U, Lampe, A K, Lim, D, Male, A, Naik, S, Parker, M J, Price, S, Robert, L, Sarkar, A, Straub, V, Woods, G, Thornton, J M, The DDD Study & Wright, C F 2017, ' Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders ', Human Molecular Genetics, vol. 26, no. 3, pp. 519-526 . https://doi.org/10.1093/hmg/ddw409

Haploinsufficiency in DYRK1A is associated with a recognizable developmental syndrome, though the mechanism of action of pathogenic missense mutations is currently unclear. Here we present 19 de novo mutations in this gene, including five missense mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c67da18768fd45722d73b13bfa4f3ab2
http://europepmc.org/articles/PMC5409128

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