Santiago Hernández Pérez

ORCID: 0000-0002-2702-3857
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About
Contact & Profiles
Research Areas
  • DNA Repair Mechanisms
  • Cancer-related Molecular Pathways
  • Ubiquitin and proteasome pathways
  • Microtubule and mitosis dynamics
  • CRISPR and Genetic Engineering
  • Endoplasmic Reticulum Stress and Disease
  • PARP inhibition in cancer therapy
  • Mitochondrial Function and Pathology

The Netherlands Cancer Institute
2021-2022

Hospital Universitario de Canarias
2020

MAD2L2 (REV7) plays an important role in DNA double-strand break repair. As a member of the shieldin complex, consisting MAD2L2, SHLD1, SHLD2 and SHLD3, it controls repair pathway choice by counteracting end-resection. Here we investigated requirements for complex assembly activity. Besides dimerization-surface, HORMA-domain protein has extraordinary ability to wrap its C-terminus around likely creating very stable complex. We show that appropriate function within requires dimerization,...

10.1038/s41467-021-25724-y article EN cc-by Nature Communications 2021-09-14

Abstract Protection of stalled replication forks is essential to prevent genome instability, a major driving force tumorigenesis. Several key regulators DNA double-stranded break (DSB) repair, including 53BP1 and RIF1, have been implicated in fork protection. MAD2L2, also known as REV7, plays an important role downstream 53BP1/RIF1 by counteracting resection at DSBs the recently discovered shieldin complex. The ability bind counteract exposed ends makes MAD2L2/shieldin prime candidate for...

10.1038/s41467-022-32861-5 article EN cc-by Nature Communications 2022-09-08

Claspin is a multifunctional protein that participates in physiological processes essential for cell homeostasis are often defective cancer, namely due to genetic changes. It conceivable gene (CLSPN) alterations may contribute cancer development. Therefore, CLSPN germline were characterized sporadic and familial breast glioma samples, as well six lines. Their association susceptibility functional impact investigated. Eight variants identified (c.-68C>T, c.17G>A, c.1574A>G,...

10.3390/cancers12092396 article EN Cancers 2020-08-24
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