Heterozygous variants in USP25 cause genetic generalized epilepsy.

USP25 encodes ubiquitin-specific protease 25, a key member of the deubiquitinating enzyme family that is involved in neural fate determination. Although abnormal expression in Down's syndrome was reported previously, the specific role of USP25 in human diseases has not been defined. In this study, we performed trio-based whole exome sequencing in a cohort of 319 cases (families) with generalized epilepsy of unknown aetiology.

Depressive- and anxiety-like phenotypes in young adult APP/PS1 transgenic mice with insensitivity to chronic mild stress.

Early Alzheimer's disease (AD) and depression share many symptoms, but the underlying mechanisms are not clear. Therefore, characterizing the shared and different biological changes between the two disorders will be helpful in making an early diagnosis and planning treatment. In the present study, 8-week-old APP/PS1 transgenic mice received chronic mild stress (CMS) for 8 weeks followed by a series of behavioral, biochemical and pathological analyses.

Aquaporin-4 mitigates retrograde degeneration of rubrospinal neurons by facilitating edema clearance and glial scar formation after spinal cord injury in mice.

Atrophy of upper motor neurons hampers axonal regeneration and functional recovery following spinal cord injury (SCI). Apart from the severity of primary injury, a series of secondary pathological damages including spinal cord edema and glial scar formation affect the fate of injured upper motor neurons. The aquaporin-4 (AQP4) water channel plays a critical role in water homeostasis and migration of astrocytes in the central nervous system, probably offering a new therapeutic target for protecting against upper motor neuron degeneration after SCI.

Aerobic exercise combined with antioxidative treatment does not counteract moderate- or mid-stage Alzheimer-like pathophysiology of APP/PS1 mice.

Aims: The present study evaluated the combined treatment effects of aerobic exercise and antioxidative stress on moderate-stage Alzheimer's disease (AD).

Methods: Ten-month-old APP/PS1 mice were given antioxidative treatment with acetylcysteine, along with aerobic exercise for 6 weeks. Spatial learning and memory were tested using the Morris water maze, and β-amyloid (Aβ) plaque deposits in the forebrain were quantified by Thioflavin-S staining.

Calcium sensing receptor absence delays postnatal brain development via direct and indirect mechanisms.

Calcium sensing receptor (CaSR) is implicated in the establishment of neural connections and myelin formation. However, its contribution to brain development remains unclear. We addressed this issue by analyzing brain phenotype in postnatal CaSR null mice, a model of human neonatal severe hyperparathyroidism.

[The study of adsorption of L-aspartic acid on silver sol by surface-enhanced Raman scattering].

The adsorption state and the characteristics of L-aspartic acid adsorbed on silver sol were studied by the Surface-Enhanced Raman Scattering (SERS) method. Strong Raman signals were detected in the experiments. The results suggested that L-aspartic acid adsorbed on the silver surfaces through carboxyl and nitrogen atoms since the signals were mainly due to the carboxyl and the nitrogen of the molecule of L-aspartic acid.