[HTML][HTML] Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing

C Michetti, A Falace, F Benfenati, A Fassio - Neurobiology of Disease, 2022 - Elsevier
Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …

Disorders of synaptic vesicle fusion machinery

H Melland, EH Arvell, SL Gordon - Journal of neurochemistry, 2021 - Wiley Online Library
The revolution in genetic technology has ushered in a new age for our understanding of the
underlying causes of neurodevelopmental, neuromuscular and neurodegenerative …

A synaptic locus for TrkB signaling underlying ketamine rapid antidepressant action

PY Lin, ZZ Ma, M Mahgoub, ET Kavalali, LM Monteggia - Cell reports, 2021 - cell.com
Ketamine produces rapid antidepressant action in patients with major depression or
treatment-resistant depression. Studies have identified brain-derived neurotrophic factor …

Role of aberrant spontaneous neurotransmission in SNAP25-associated encephalopathies

B Alten, Q Zhou, OH Shin, L Esquivies, PY Lin, KI White… - Neuron, 2021 - cell.com
SNARE (soluble N-ethylmaleimide sensitive factor attachment protein receptor) complex,
composed of synaptobrevin, syntaxin, and SNAP25, forms the essential fusion machinery for …

Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits

GT Banks, MCC Guillaumin, I Heise, P Lau, M Yin… - Science …, 2020 - science.org
Switches between global sleep and wakefulness states are believed to be dictated by top-
down influences arising from subcortical nuclei. Using forward genetics and in vivo …

Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons

G Vardar, F Gerth, XJ Schmitt, P Rautenstrauch… - Brain, 2020 - academic.oup.com
Abstract Syntaxin 1B (STX1B) is a core component of the N-ethylmaleimide-sensitive factor
attachment protein receptor (SNARE) complex that is critical for the exocytosis of synaptic …

Syntaxin 1B regulates synaptic GABA release and extracellular GABA concentration, and is associated with temperature‐dependent seizures

T Mishima, T Fujiwara, T Kofuji, A Saito… - Journal of …, 2021 - Wiley Online Library
De novo heterozygous mutations in the STX1B gene, encoding syntaxin 1B, cause a
familial, fever‐associated epilepsy syndrome. Syntaxin 1B is an essential component of the …

Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment

RL Simmons, H Li, B Alten, MS Santos… - Human …, 2020 - Wiley Online Library
Clinical and genetic features of five unrelated patients with de novo pathogenic variants in
the synaptic vesicle‐associated membrane protein 2 (VAMP2) reveal common features of …

Integrative mRNA and miRNA Expression Profiles from Developing Zebrafish Head Highlight Brain-Preference Genes and Regulatory Networks

S Zhang, J Yang, J Xu, J Li, L Xu, N Jin, X Li - Molecular Neurobiology, 2024 - Springer
Zebrafish is an emerging animal model for studying molecular mechanism underlying
neurodevelopmental disorder due to its advantage characters. miRNAs are small non …

Behavioral and gene expression analysis of Stxbp6-knockout mice

C Liu, Q Hu, Y Chen, L Wu, X Liu, D Liang - Brain Sciences, 2021 - mdpi.com
Since the first report that Stxbp6, a brain-enriched protein, regulates the assembly of soluble
N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) complexes, little has …