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Elsevier1
Springer Nature1
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Chemico-Biological Interactions1
Journal of Molecular Medicine1
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20242
Eva Monte-Serrano results 2 · Newest (Page 1/1, per page 25)
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Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathyNARA Subscribed
Journal of Molecular Medicine · 2024 · Vol. 102 · Issue 6 · Springer
Aurora Campos-Díaz; Patricia Morejón-García; Eva Monte-Serrano; David Ros-Pardo; Iñigo Marcos-Alcalde; Paulino Gómez-Puertas; Pedro A. Lazo
Rare recessive variants in the human VRK1 gene are associated with several motor neuron diseases (MND), such as amyotrophic lateral sclerosis, spinal muscular atrophy, or distal hereditary motor neuropathies (dHMN). A case with dHMN carrying two novel VRK1 gene variants, expressing Leu200Pro (L200P) and Arg387His (R387H) variant proteins, identified that these protein variants are functionally different. The Leu200Pro variant...
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Loss of VRK1 alters the nuclear phosphoproteome in the DNA damage response to doxorubicinNARA Subscribed
Chemico-Biological Interactions · 2024 · Vol. 391 · Elsevier
Elena Navarro-Carrasco; Aurora Campos-Díaz; Eva Monte-Serrano; Frank Rolfs; Richard de Goeij-de Haas; Thang V. Pham; Sander R. Piersma; Connie R. Jiménez; Pedro A. Lazo
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