Ubiquitylation at the crossroads of development and disease
M Rape - Nature reviews Molecular cell biology, 2018 - nature.com
Human development requires intricate cell specification and communication pathways that
allow an embryo to generate and appropriately connect more than 200 different cell types …
allow an embryo to generate and appropriately connect more than 200 different cell types …
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 …
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …
BioE3 identifies specific substrates of ubiquitin E3 ligases
O Barroso-Gomila, L Merino-Cacho, V Muratore… - Nature …, 2023 - nature.com
Hundreds of E3 ligases play a critical role in recognizing specific substrates for modification
by ubiquitin (Ub). Separating genuine targets of E3s from E3-interactors remains a …
by ubiquitin (Ub). Separating genuine targets of E3s from E3-interactors remains a …
Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity
The centrosome provides an intracellular anchor for the cytoskeleton, regulating cell
division, cell migration, and cilia formation. We used spatial proteomics to elucidate protein …
division, cell migration, and cilia formation. We used spatial proteomics to elucidate protein …
Neuronal migration in the CNS during development and disease: insights from in vivo and in vitro models
IY Buchsbaum, S Cappello - Development, 2019 - journals.biologists.com
Neuronal migration is a fundamental process that governs embryonic brain development. As
such, mutations that affect essential neuronal migration processes lead to severe brain …
such, mutations that affect essential neuronal migration processes lead to severe brain …
Genetics and mechanisms leading to human cortical malformations
DM Romero, N Bahi-Buisson, F Francis - Seminars in cell & developmental …, 2018 - Elsevier
Cerebral cortical development involves a complex series of highly regulated steps to
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …
Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment
JD Symonds, SM Zuberi… - Current opinion in …, 2017 - journals.lww.com
We are living in an unparalleled era of epilepsy gene discovery. Advances in clinical care
from this progress are already materializing through improved clinical diagnosis and …
from this progress are already materializing through improved clinical diagnosis and …
A tunable brake for HECT ubiquitin ligases
The HECT E3 ligases ubiquitinate numerous transcription factors and signaling molecules,
and their activity must be tightly controlled to prevent cancer, immune disorders, and other …
and their activity must be tightly controlled to prevent cancer, immune disorders, and other …
Neurodevelopmental disorders (NDD) caused by genomic alterations of the ubiquitin-proteasome system (UPS): the possible contribution of immune dysregulation to …
Over thirty years have passed since the first description of ubiquitin-positive structures in the
brain of patients suffering from Alzheimer's disease. Meanwhile, the intracellular …
brain of patients suffering from Alzheimer's disease. Meanwhile, the intracellular …
Linking cell polarity to cortical development and malformations
J Hakanen, N Ruiz-Reig, F Tissir - Frontiers in cellular neuroscience, 2019 - frontiersin.org
Cell polarity refers to the asymmetric distribution of signaling molecules, cellular organelles,
and cytoskeleton in a cell. Neural progenitors and neurons are highly polarized cells in …
and cytoskeleton in a cell. Neural progenitors and neurons are highly polarized cells in …