YWHAZ variation causes intellectual disability and global developmental delay with brain malformation.

YWHAZ encodes an adapter protein 14-3-3ζ, which is involved in many signaling pathways that control cellular proliferation, migration and differentiation. It has not been definitely correlated to any phenotype in OMIM. To investigate the role of YWHAZ gene in intellectual disability and global developmental delay, we conducted whole-exon sequencing in all of the available members from a large three-generation family and we discovered that a novel variant of the YWHAZ gene was associated with intellectual disability and global developmental delay.

Ketone Body Rescued Seizure Behavior of LRP1 Deficiency in Drosophila by Modulating Glutamate Transport.

LRP1, the low-density lipoprotein receptor 1, would be a novel candidate gene of epilepsy according to our bioinformatic results and the animal study. In this study, we explored the role of LRP1 in epilepsy and whether beta-hydroxybutyrate, the principal ketone body of the ketogenic diet, can treat epilepsy caused by LRP1 deficiency in drosophila. UAS/GAL4 system was used to establish different genotype models.

Effects of Deferasirox in Alzheimer's Disease and Tauopathy Animal Models.

The accumulation of iron may contribute to Alzheimer's disease (AD) and other tauopathies. The iron chelator desferrioxamine slows disease progression in AD patients. However, desferrioxamine requires injection, which is inconvenient and may hinder compliance.

Rationale for the development of an Alzheimer's disease vaccine.

Vaccination traditionally has targeted infectious agents and thus has not heretofore been used to prevent neurodegenerative illness. However, amyloid β (Aβ) or tau, which can act like infectious proteins, or prions, might induce Alzheimer's disease (AD). Furthermore, evidence suggests that traditional infectious agents, including certain viruses and bacteria, may trigger AD.

Effects of Resveratrol and Morin on Insoluble Tau in Tau Transgenic Mice.

Tauopathies are neurodegenerative diseases, including Alzheimer's disease (AD) and frontotemporal dementia (FTD), in which tau protein aggregates within neurons. An effective treatment is lacking and is urgently needed. We evaluated two structurally similar natural compounds, morin and resveratrol, for treating tauopathy in JNPL3 P301L mutant human tau overexpressing mice.

The sympathetic nervous system regulates skeletal muscle motor innervation and acetylcholine receptor stability.

Aim: Symptoms of autonomic failure are frequently the presentation of advanced age and neurodegenerative diseases that impair adaptation to common physiologic stressors. The aim of this work was to examine the interaction between the sympathetic and motor nervous system, the involvement of the sympathetic nervous system (SNS) in neuromuscular junction (NMJ) presynaptic motor function, the stability of postsynaptic molecular organization, and the skeletal muscle composition and function.

Methods: Since muscle weakness is a symptom of diseases characterized by autonomic dysfunction, we studied the impact of regional sympathetic ablation on muscle motor innervation by using transcriptome analysis, retrograde tracing of the sympathetic outflow to the skeletal muscle, confocal and electron microscopy, NMJ transmission by electrophysiological methods, protein analysis, and state of the art microsurgical techniques, in C57BL6, MuRF1KO and Thy-1 mice.

Osteoporosis: from osteoscience to neuroscience and beyond.

Osteoporosis is well known to be a poly-factorial skeletal disorder characterized by a low bone mineral density (BMD) at which the risk of developing fracture is remarkably increased and affecting both the quality and quantity of life. Although it is nearly 180 years, since its first pathological identification, there is no effective cure against such aging-associated health concern. Traditional research direction on osteoporosis was mainly focused on the balance between bone formation and resorption, in which osteoblast and osteoclast physiology as well as a variety of relevant molecular factors underlying bone homeostasis have been intensively studied.

Cytotoxicity and genotoxicity assessment of Euphorbia hirta in MCF-7 cell line model using comet assay.

Objective: To evaluate the cytotoxicity and genotoxicity activity of Euphorbia hirta (E. hirta) in MCF-7 cell line model using comet assay.

Methods: The cytotoxicity of E.

Sarcopenia: the gliogenic perspective.

It has been approximately 25 years since Dr. Rosenberg first brought attention to sarcopenia. To date, this aging-associated condition is recognized as a chronic loss of muscle mass and is usually accompanied by dynapenia.

Sarcopenia, a neurogenic syndrome?

Sarcopenia is an aging-associated condition, which is currently characterized by the loss of muscle mass and muscle strength. However, there is no consensus regarding its characterization hitherto. As the world older adult population is on the rise, the impact of sarcopenia becomes greater.