[HTML][HTML] 53BP1-mediated activation of the tumor suppressor p53

H Belal, EFY Ng, F Meitinger - Current Opinion in Cell Biology, 2024 - Elsevier
In recent years, the role of 53BP1 as a cell cycle regulator has come into the spotlight.
53BP1 is best understood for its role in controlling DNA double-strand break repair …

DNA damage and repair: underlying mechanisms leading to microcephaly

JH Ribeiro, N Altinisik, N Rajan… - Frontiers in Cell and …, 2023 - frontiersin.org
DNA-damaging agents and endogenous DNA damage constantly harm genome integrity.
Under genotoxic stress conditions, the DNA damage response (DDR) machinery is crucial in …

Aberrant cortical development is driven by impaired cell cycle and translational control in a DDX3X syndrome model

ML Hoye, L Calviello, AJ Poff, NE Ejimogu… - Elife, 2022 - elifesciences.org
Mutations in the RNA helicase, DDX3X, are a leading cause of Intellectual Disability and
present as DDX3X syndrome, a neurodevelopmental disorder associated with cortical …

Centrosome defects cause microcephaly by activating the 53BP1‐USP28‐TP53 mitotic surveillance pathway

TP Phan, AL Maryniak, CA Boatwright, J Lee… - The EMBO …, 2021 - embopress.org
Mutations in centrosome genes deplete neural progenitor cells (NPCs) during brain
development, causing microcephaly. While NPC attrition is linked to TP53‐mediated cell …

SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes

DJ Smits, R Schot, N Krusy, K Wiegmann… - Brain, 2023 - academic.oup.com
Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental
disorder with progressive congenital microcephaly and early death. SMPD4 encodes a …

Developmental and tissue‐specific roles of mammalian centrosomes

C Meyer‐Gerards, H Bazzi - The FEBS Journal, 2024 - Wiley Online Library
Centrosomes are dominant microtubule organizing centers in animal cells with a pair of
centrioles at their core. They template cilia during interphase and help organize the mitotic …

Timing as a mechanism of development and evolution in the cerebral cortex

LR Fenlon - Brain, behavior and evolution, 2022 - karger.com
One of the biggest mysteries in neurobiology concerns the mechanisms responsible for the
diversification of the brain over different time scales, ie during development and evolution …

Augmin deficiency in neural stem cells causes p53-dependent apoptosis and aborts brain development

R Viais, M Fariña-Mosquera, M Villamor-Payà… - elife, 2021 - elifesciences.org
Microtubules that assemble the mitotic spindle are generated by centrosomal nucleation,
chromatin-mediated nucleation, and nucleation from the surface of other microtubules …

A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture

DM Romero, D Zaidi, C Cifuentes-Diaz, C Maillard… - Neurobiology of …, 2023 - Elsevier
Dynein heavy chain (DYNC1H1) mutations can either lead to severe cerebral cortical
malformations, or alternatively may be associated with the development of spinal muscular …

Time is of the essence: the molecular mechanisms of primary microcephaly

TP Phan, AJ Holland - Genes & development, 2021 - genesdev.cshlp.org
Primary microcephaly is a brain growth disorder characterized by a severe reduction of brain
size and thinning of the cerebral cortex. Many primary microcephaly mutations occur in …