GABAergic interneurons in epilepsy: More than a simple change in inhibition

JR Marafiga, MV Pasquetti, ME Calcagnotto - Epilepsy & Behavior, 2021 - Elsevier
The pathophysiology of epilepsy has been historically grounded on hyperexcitability
attributed to the oversimplified imbalance between excitation (E) and inhibition (I) in the …

Cytoskeletal makeup of the synapse: Shaft versus spine

M Bucher, T Fanutza, M Mikhaylova - Cytoskeleton, 2020 - Wiley Online Library
The ability of neurons to communicate and store information depends on the activity of
synapses which can be located on small protrusions (dendritic spines) or directly on the …

Synaptic FUS accumulation triggers early misregulation of synaptic RNAs in a mouse model of ALS

S Sahadevan, KM Hembach, E Tantardini… - Nature …, 2021 - nature.com
Mutations disrupting the nuclear localization of the RNA-binding protein FUS characterize a
subset of amyotrophic lateral sclerosis patients (ALS-FUS). FUS regulates nuclear RNAs …

Mapping of multiple neurotransmitter receptor subtypes and distinct protein complexes to the connectome

P Sanfilippo, AJ Kim, A Bhukel, J Yoo, PS Mirshahidi… - Neuron, 2024 - cell.com
Neurons express various combinations of neurotransmitter receptor (NR) subunits and
receive inputs from multiple neuron types expressing different neurotransmitters. Localizing …

Epilepsy progression is associated with cumulative DNA methylation changes in inflammatory genes

R Martins-Ferreira, B Leal, J Chaves, T Li… - Progress in …, 2022 - Elsevier
Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is the most common
focal epilepsy in adults. It is characterized by alarming rates of pharmacoresistance …

Dystroglycan mediates clustering of essential GABAergic components in cerebellar purkinje cells

F Briatore, G Pregno, S Di Angelantonio… - Frontiers in Molecular …, 2020 - frontiersin.org
Muscle dystrophin–glycoprotein complex (DGC) links the intracellular cytoskeleton to the
extracellular matrix. In neurons, dystroglycan and dystrophin, two major components of the …

Impaired axon initial segment structure and function in a model of ARHGEF9 developmental and epileptic encephalopathy

W Wang, DJ Williams, JJ Teoh… - Proceedings of the …, 2024 - pnas.org
Developmental and epileptic encephalopathies (DEE) are rare but devastating and largely
intractable childhood epilepsies. Genetic variants in ARHGEF9, encoding a scaffolding …

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit

DJ Hines, A Contreras, B Garcia, JS Barker… - Molecular …, 2022 - nature.com
Intellectual disability (ID) is a common neurodevelopmental disorder that can arise from
genetic mutations ranging from trisomy to single nucleotide polymorphism. Mutations in a …

Neuronal subcompartment classification and merge error correction

H Li, M Januszewski, V Jain, PH Li - … Conference, Lima, Peru, October 4–8 …, 2020 - Springer
Recent advances in 3d electron microscopy are yielding ever larger reconstructions of brain
tissue, encompassing thousands of individual neurons interconnected by millions of …

Motor learning changes the axon initial segment of the spinal motoneuron

Y Wang, Y Chen, L Chen, BJ Herron… - The Journal of …, 2024 - Wiley Online Library
We are studying the mechanisms of H‐reflex operant conditioning, a simple form of learning.
Modelling studies in the literature and our previous data suggested that changes in the axon …