Map** the molecular and cellular complexity of cortical malformations

E Klingler, F Francis, D Jabaudon, S Cappello - Science, 2021 - science.org
INTRODUCTION The cerebral cortex, or neocortex, is critical to key mammalian skills such
as language, sociability, and sensorimotor control. This structure consists of dozens of …

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

MT Lam, S Coppola, OHF Krumbach… - Journal of Experimental …, 2019 - rupress.org
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due
to inadequate restraint of overactivated immune cells and is associated with a variable …

Neuronal migration and disorders–an update

F Francis, S Cappello - Current Opinion in Neurobiology, 2021 - Elsevier
This review highlights genes, proteins and subcellular mechanisms, recently shown to
influence cortical neuronal migration. A current view on mechanisms which become …

Mutations in KCNK4 that affect gating cause a recognizable neurodevelopmental syndrome

CK Bauer, P Calligari, FC Radio, V Caputo… - The American Journal of …, 2018 - cell.com
Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of
cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine …

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

YC Lin, M Niceta, V Muto, B Vona… - The American Journal of …, 2021 - cell.com
Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small
family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for …

Infant mortality: the contribution of genetic disorders

MH Wojcik, TS Schwartz, KE Thiele, H Paterson… - Journal of …, 2019 - nature.com
Objective To determine the proportion of infant deaths occurring in the setting of a confirmed
genetic disorder. Study design A retrospective analysis of the electronic medical records of …

“Ears of the lynx” MRI sign is associated with SPG11 and SPG15 hereditary spastic paraplegia

B Pascual, ST De Bot, MR Daniels, MC França… - American Journal of …, 2019 - ajnr.org
BACKGROUND AND PURPOSE: The “ears of the lynx” MR imaging sign has been
described in case reports of hereditary spastic paraplegia with a thin corpus callosum …

Aberrant function of the C-terminal tail of HIST1H1E accelerates cellular senescence and causes premature aging

E Flex, S Martinelli, A Van Dijck, A Ciolfi… - The American Journal of …, 2019 - cell.com
Histones mediate dynamic packaging of nuclear DNA in chromatin, a process that is
precisely controlled to guarantee efficient compaction of the genome and proper …

Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis

P Magini, DJ Smits, L Vandervore, R Schot… - The American Journal of …, 2019 - cell.com
Sphingomyelinases generate ceramide from sphingomyelin as a second messenger in
intracellular signaling pathways involved in cell proliferation, differentiation, or apoptosis …

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

M Zollo, M Ahmed, V Ferrucci, V Salpietro… - Brain, 2017 - academic.oup.com
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of
molecules important for cell motility, and implicated in cancer progression. Here we …