The pattern of histone H3 epigenetic posttranslational modifications is regulated by the VRK1 chromatin kinase

Autor: Eva Monte-Serrano, Patricia Morejón-García, Ignacio Campillo-Marcos, Aurora Campos-Díaz, Elena Navarro-Carrasco, Pedro A. Lazo

Publikováno v: Epigenetics & Chromatin, Vol 16, Iss 1, Pp 1-20 (2023)

Abstract Background Dynamic chromatin remodeling is associated with changes in the epigenetic pattern of histone acetylations and methylations required for processes based on dynamic chromatin remodeling and implicated in different nuclear functions.

Externí odkaz: https://doaj.org/article/676b1382522c4af5bf97929acd574fdf

VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy

Autor: Ana T. Marcos, Elena Martín‐Doncel, Patricia Morejón‐García, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, María Segura‐Puimedon, Lluis Armengol, José M. Navarro‐Pando, Pedro A. Lazo

Publikováno v: Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 808-818 (2020)

Abstract Background Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis. This indicates

Externí odkaz: https://doaj.org/article/7cf516f40dbd4c2b8556d818786af3d0

Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia

Autor: Boris Keren, Pedro A. Lazo, Paulino Gómez-Puertas, Iñigo Marcos-Alcalde, Fanny Mochel, Patricia Morejón-García

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Neurology Genetics
Neurology Genetics, 2021, 7 (5), pp.e624. ⟨10.1212/nxg.0000000000000624⟩
Neurology Genetics, American Academy of Neurology, 2021, 7 (5), pp.e624. ⟨10.1212/nxg.0000000000000624⟩
Neurology: Genetics
article-version (Version of Record) 3
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria

[Background and Objectives]: To conduct a genetic and molecular functional study of a family with members affected of hereditary spastic paraplegia (HSP) of unknown origin and carrying a novel pathogenic vaccinia-related kinase 1 (VRK1) variant.