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 …

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 …

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 …

Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity

AC O'Neill, F Uzbas, G Antognolli, F Merino… - Science, 2022 - science.org
The centrosome provides an intracellular anchor for the cytoskeleton, regulating cell
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 …

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 …

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 …

A tunable brake for HECT ubiquitin ligases

Z Chen, H Jiang, W Xu, X Li, DR Dempsey, X Zhang… - Molecular cell, 2017 - cell.com
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 …

Neurodevelopmental disorders (NDD) caused by genomic alterations of the ubiquitin-proteasome system (UPS): the possible contribution of immune dysregulation to …

F Ebstein, S Küry, JJ Papendorf… - Frontiers in Molecular …, 2021 - frontiersin.org
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 …

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 …