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 …

The mechanisms and functions of spontaneous neurotransmitter release

ET Kavalali - Nature Reviews Neuroscience, 2015 - nature.com
Fast synaptic communication in the brain requires synchronous vesicle fusion that is evoked
by action potential-induced Ca2+ influx. However, synaptic terminals also release …

The morphological and molecular nature of synaptic vesicle priming at presynaptic active zones

C Imig, SW Min, S Krinner, M Arancillo, C Rosenmund… - Neuron, 2014 - cell.com
Synaptic vesicle docking, priming, and fusion at active zones are orchestrated by a complex
molecular machinery. We employed hippocampal organotypic slice cultures from mice …

The synaptic vesicle cycle

TC Südhof - Annu. Rev. Neurosci., 2004 - annualreviews.org
▪ Abstract Neurotransmitter release is mediated by exocytosis of synaptic vesicles at the
presynaptic active zone of nerve terminals. To support rapid and repeated rounds of release …

α-Synuclein cooperates with CSPα in preventing neurodegeneration

S Chandra, G Gallardo, R Fernández-Chacón… - Cell, 2005 - cell.com
Summary α-synuclein and cysteine-string protein-α (CSPα) are abundant synaptic vesicle
proteins independently linked to neurodegeneration. Dominantly inherited mutations in α …

Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse

I Roux, S Safieddine, R Nouvian, M Grati, MC Simmler… - Cell, 2006 - cell.com
The auditory inner hair cell (IHC) ribbon synapse operates with an exceptional temporal
precision and maintains a high level of neurotransmitter release. However, the molecular …

Secretory granule exocytosis

RD Burgoyne, A Morgan - Physiological reviews, 2003 - journals.physiology.org
Regulated exocytosis of secretory granules or dense-core granules has been examined in
many well-characterized cell types including neurons, neuroendocrine, endocrine, exocrine …

[HTML][HTML] SNAREs and traffic

W Hong - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2005 - Elsevier
SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) are now
generally accepted to be the major players in the final stage of the docking and the …

PKA-dependent and PKA-independent pathways for cAMP-regulated exocytosis

S Seino, T Shibasaki - Physiological reviews, 2005 - journals.physiology.org
Stimulus-secretion coupling is an essential process in secretory cells in which regulated
exocytosis occurs, including neuronal, neuroendocrine, endocrine, and exocrine cells. While …

MicroRNA miR-137 regulates neuronal maturation by targeting ubiquitin ligase mind bomb-1

RD Smrt, KE Szulwach, RL Pfeiffer, X Li, W Guo… - Stem …, 2010 - academic.oup.com
The maturation of young neurons is regulated by complex mechanisms and dysregulation of
this process is frequently found in neurodevepmental disorders. MicroRNAs have been …