The recurrent pathogenic Pro890Leu substitution in CLTC causes a generalized defect in synaptic transmission in .

mutations underlie a spectrum of early-onset neurodevelopmental phenotypes having developmental delay/intellectual disability (ID), epilepsy, and movement disorders (MD) as major clinical features. encodes the widely expressed heavy polypeptide of clathrin, a major component of the coated vesicles mediating endocytosis, intracellular trafficking, and synaptic vesicle recycling. The underlying pathogenic mechanism is largely unknown.

Optical Control of Tissue Regeneration through Photostimulation of Organic Semiconducting Nanoparticles.

Next generation bioengineering strives to identify crucial cues that trigger regeneration of damaged tissues, and to control the cells that execute these programs with biomaterials and devices. Molecular and biophysical mechanisms driving embryogenesis may inspire novel tools to reactivate developmental programs in situ. Here nanoparticles based on conjugated polymers are employed for optical control of regenerating tissues by using an animal with unlimited regenerative potential, the polyp Hydra, as in vivo model, and human keratinocytes as an in vitro model to investigate skin repair.

Protective effect of extract against aging and neurodegeneration.

Aging and age-related neurodegeneration are among the major challenges in modern medicine because of the progressive increase in the number of elderly in the world population. Nutrition, which has important long-term consequences for health, is an important way to prevent diseases and achieve healthy aging. The beneficial effects of on metabolic disorders have been widely documented.

In Vivo Biotransformations of Indium Phosphide Quantum Dots Revealed by X-Ray Microspectroscopy.

Many attempts have been made to synthesize cadmium-free quantum dots (QDs), using nontoxic materials, while preserving their unique optical properties. Despite impressive advances, gaps in knowledge of their intracellular fate, persistence, and excretion from the targeted cell or organism still exist, precluding clinical applications. In this study, we used a simple model organism () presenting a tissue grade of organization to determine the biodistribution of indium phosphide (InP)-based QDs by X-ray fluorescence imaging.

Real time dynamics of β-catenin expression during Hydra development, regeneration and Wnt signalling activation.

Understanding the dynamic cellular behaviours driving morphogenesis and regeneration is a long-standing challenge in biology. Live imaging, together with genetically encoded reporters, may provide the necessary tool to address this issue, permitting the in vivo monitoring of the spatial and temporal expression dynamics of a gene of interest during a variety of developmental processes. Canonical Wnt/β-catenin signalling controls a plethora of cellular activities during development, regeneration and adulthood throughout the animal kingdom.