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Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals
We report the cases of two Spanish pediatric patients with hypotonia, muscle weakness and feeding difficulties at birth. Whole-exome sequencing (WES)...
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Parkinsonism mutations in DNAJC6 cause lipid defects and neurodegeneration that are rescued by Synj1
Recent evidence links dysfunctional lipid metabolism to the pathogenesis of Parkinson’s disease, but the mechanisms are not resolved. Here, we...
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Promising protein biomarkers in the early diagnosis of Alzheimer’s disease
Alzheimer’s disease (AD) is an insidious, multifactorial disease that involves the devastation of neurons leading to cognitive impairments....
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Systematic characterization of a non-transgenic Aβ1–42 amyloidosis model: synaptic plasticity and memory deficits in female and male mice
BackgroundThe amyloid- β (A β ) cascade is one of the most studied theories linked to AD. In multiple models, A β accumulation and dyshomeostasis have...
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Revealing nanostructures in brain tissue via protein decrowding by iterative expansion microscopy
Many crowded biomolecular structures in cells and tissues are inaccessible to labelling antibodies. To understand how proteins within these...
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Personalized Protein-Protein Interaction Networks Towards Unraveling the Molecular Mechanisms of Alzheimer’s Disease
Alzheimer’s disease (AD) is a highly heterogenous neurodegenerative disease, and several omic-based datasets were generated in the last decade from...
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Effects of Kv1.3 knockout on pyramidal neuron excitability and synaptic plasticity in piriform cortex of mice
Kv1.3 belongs to the voltage-gated potassium (Kv) channel family, which is widely expressed in the central nervous system and associated with a...
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Immunogold labeling of synaptic vesicle proteins in develo** hippocampal neurons
Synaptic vesicles (SV) contain high concentrations of specific proteins. How these proteins are transported from soma to synapses, and how they...
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SARS-CoV-2 Spike Protein S1 Domain Accelerates α-Synuclein Phosphorylation and Aggregation in Cellular Models of Synucleinopathy
The 2019 novel coronavirus disease (COVID-19) is an infectious disease that began to spread globally since 2019. Some COVID-19 patients have...
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miR-128 as a Regulator of Synaptic Properties in 5xFAD Mice Hippocampal Neurons
Alzheimer’s disease (AD) is characterized by progressive synaptic dysfunction, deterioration of neuronal transmission, and consequently neuronal...
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ZAP70: A Key Gene Identified by Differential Expression Analysis for Early Diagnosis of Fetuses with Emanuel Syndrome
Emanuel syndrome is a rare autosomal disorder characterized by microcephaly, heart defects, cleft palate and developmental delay. However, there is a...
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Mechanism of Purinergic Regulation of Neurotransmission in Mouse Neuromuscular Junction: The Role of Redox Signaling and Lipid Rafts
Acetylcholine is the main neurotransmitter at the vertebrate neuromuscular junctions (NMJs). ACh exocytosis is precisely modulated by co-transmitter...
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Sexually dimorphic extracellular vesicle responses after chronic spinal cord injury are associated with neuroinflammation and neurodegeneration in the aged brain
BackgroundMedical advances have made it increasingly possible for spinal cord injury (SCI) survivors to survive decades after the insult. But how SCI...
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Linking Inflammation, Aberrant Glutamate-Dopamine Interaction, and Post-synaptic Changes: Translational Relevance for Schizophrenia and Antipsychotic Treatment: a Systematic Review
Evidence from clinical, preclinical, and post-mortem studies supports the inflammatory/immune hypothesis of schizophrenia pathogenesis. Less evident...
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Multiple Modes of Fusion and Retrieval at the Calyx of Held Synapse
Neurotransmitter in vesicles is released through a fusion pore when vesicles fuse with the plasma membrane. Subsequent retrieval of the fused vesicle... -
Exosomal MicroRNAs as Brain Memory Devices
MicroRNAs (miRNAs) have been implicated in brain memory mechanisms. miR-9c, miR-31a, miR-305, miR-974, and miR-980 were involved in memory formation... -
Tacrolimus Decreases Cognitive Function by Impairing Hippocampal Synaptic Balance: a Possible Role of Klotho
The influence of long-term tacrolimus treatment on cognitive function remains to be elucidated. Using a murine model of chronic tacrolimus...