International consensus recommendations on the diagnostic work-up for malformations of cortical development

R Oegema, TS Barakat, M Wilke, K Stouffs… - Nature Reviews …, 2020 - nature.com
Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

Dissecting the genetic and etiological causes of primary microcephaly

F Jean, A Stuart, M Tarailo-Graovac - Frontiers in neurology, 2020 - frontiersin.org
Autosomal recessive primary microcephaly (MCPH;“small head syndrome”) is a rare,
heterogeneous disease arising from the decreased production of neurons during brain …

Autosomal recessive primary microcephaly: not just a small brain

S Zaqout, AM Kaindl - Frontiers in Cell and Developmental Biology, 2022 - frontiersin.org
Microcephaly or reduced head circumference results from a multitude of abnormal
developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …

Primary cilia and centrosomes in neocortex development

M Wilsch-Bräuninger, WB Huttner - Frontiers in neuroscience, 2021 - frontiersin.org
During mammalian brain development, neural stem and progenitor cells generate the
neurons for the six-layered neocortex. The proliferative capacity of the different types of …

The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM

X Wu, Z Li, ZQ Wang, X Xu - Frontiers in neuroscience, 2023 - frontiersin.org
Primary microcephaly (MCPH), is a neurological disorder characterized by small brain size
that results in numerous developmental problems, including intellectual disability, motor and …

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 …

ASPM promotes ATR-CHK1 activation and stabilizes stalled replication forks in response to replication stress

X Wu, S Xu, P Wang, ZQ Wang… - Proceedings of the …, 2022 - National Acad Sciences
ASPM is a protein encoded by primary microcephaly 5 (MCPH5) and is responsible for
ensuring spindle position during mitosis and the symmetrical division of neural stem cells …

Inhibiting microcephaly genes as alternative to microtubule targeting agents to treat brain tumors

G Iegiani, F Di Cunto, G Pallavicini - Cell Death & Disease, 2021 - nature.com
Medulloblastoma (MB) and gliomas are the most frequent high-grade brain tumors (HGBT)
in children and adulthood, respectively. The general treatment for these tumors consists in …

Mendelian neurodegenerative disease genes involved in autophagy

E Stamatakou, L Wróbel, SM Hill, C Puri, SM Son… - Cell discovery, 2020 - nature.com
The lysosomal degradation pathway of macroautophagy (herein referred to as autophagy)
plays a crucial role in cellular physiology by regulating the removal of unwanted cargoes …

The multiple mitotic roles of the ASPM orthologous proteins: insight into the etiology of ASPM-dependent microcephaly

AV Razuvaeva, L Graziadio, V Palumbo, GA Pavlova… - Cells, 2023 - mdpi.com
The Drosophila abnormal spindle (asp) gene was discovered about 40 years ago and
shown to be required for both mitotic and meiotic cell division. Subsequent studies showed …