Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Autoantibodies to synaptic receptors and neuronal cell surface proteins in autoimmune diseases of the central nervous system

J Dalmau, C Geis, F Graus - Physiological reviews, 2017 - journals.physiology.org
Investigations in the last 10 years have revealed a new category of neurological diseases
mediated by antibodies against cell surface and synaptic proteins. There are currently 16 …

LGI1 antibodies alter Kv1.1 and AMPA receptors changing synaptic excitability, plasticity and memory

M Petit-Pedrol, J Sell, J Planagumà, F Mannara… - Brain, 2018 - academic.oup.com
Abstract Leucine-rich glioma-inactivated 1 (LGI1) is a secreted neuronal protein that forms a
trans-synaptic complex that includes the presynaptic disintegrin and metalloproteinase …

Distinct molecular programs regulate synapse specificity in cortical inhibitory circuits

E Favuzzi, R Deogracias, A Marques-Smith, P Maeso… - Science, 2019 - science.org
How neuronal connections are established and organized into functional networks
determines brain function. In the mammalian cerebral cortex, different classes of GABAergic …

Neurodevelopmental disorders associated with PSD-95 and its interaction partners

AM Levy, P Gomez-Puertas, Z Tümer - International journal of molecular …, 2022 - mdpi.com
The postsynaptic density (PSD) is a massive protein complex, critical for synaptic strength
and plasticity in excitatory neurons. Here, the scaffolding protein PSD-95 plays a crucial role …

A synthetic synaptic organizer protein restores glutamatergic neuronal circuits

K Suzuki, J Elegheert, I Song, H Sasakura, O Senkov… - Science, 2020 - science.org
INTRODUCTION Synapses are fundamental structural and functional units within neural
circuits, where they define the connectivity between neurons and provide avenues for …

Proteomic profiling of the ECM of xenograft breast cancer metastases in different organs reveals distinct metastatic niches

JD Hebert, SA Myers, A Naba, G Abbruzzese… - Cancer …, 2020 - aacrjournals.org
Metastasis causes most cancer-related deaths, and one poorly understood aspect of
metastatic cancer is the adaptability of cells from a primary tumor to create new niches and …

Functions of 'A disintegrin and metalloproteases (ADAMs)'in the mammalian nervous system

HE Hsia, J Tüshaus, T Brummer, Y Zheng… - Cellular and Molecular …, 2019 - Springer
Abstract 'A disintegrin and metalloproteases'(ADAMs) are a family of transmembrane
proteins with diverse functions in multicellular organisms. About half of the ADAMs are active …

Identification of visual cortex cell types and species differences using single-cell RNA sequencing

JR Wei, ZZ Hao, C Xu, M Huang, L Tang, N Xu… - Nature …, 2022 - nature.com
The primate neocortex exerts high cognitive ability and strong information processing
capacity. Here, we establish a single-cell RNA sequencing dataset of 133,454 macaque …

LGI1–ADAM22–MAGUK configures transsynaptic nanoalignment for synaptic transmission and epilepsy prevention

Y Fukata, X Chen, S Chiken, Y Hirano… - Proceedings of the …, 2021 - pnas.org
Physiological functioning and homeostasis of the brain rely on finely tuned synaptic
transmission, which involves nanoscale alignment between presynaptic neurotransmitter …