Drosophila melanogaster models of MPS IIIC (Hgsnat-deficiency) highlight the role of glia in disease presentation.

Sanfilippo syndrome (Mucopolysaccharidosis type III or MPS III) is a recessively inherited neurodegenerative lysosomal storage disorder. Mutations in genes encoding enzymes in the heparan sulphate degradation pathway lead to the accumulation of partially degraded heparan sulphate, resulting ultimately in the development of neurological deficits. Mutations in the gene encoding the membrane protein heparan-α-glucosaminide N-acetyltransferase (HGSNAT; EC2.

Development of the ethmoid in a wallaby and implications for the homology of turbinal elements in marsupials.

The homologies of the turbinals (scroll bones) of the ethmoid are not well understood, including the potential implication for understanding mammalian phylogeny. Here we examine the postnatal development of this anatomical system in a marsupial mammal because previous work has shown that the adult pattern of five endoturbinals (ethmoturbinals) and two ectoturbinals (frontoturbinals) is conserved. Furthermore, marsupial phylogeny is fairly well resolved and provides a solid evolutionary framework for examining turbinal homologies.

Spherulitic Lead Calcium Apatite Minerals in Lead Water Pipes Exposed to Phosphate-Dosed Tap Water.

Phosphate dosing is the principle strategy used in the United Kingdom to reduce the concentration of lead in tap waters supplied by lead water pipes. The mechanisms of phosphate-mediated lead control are not fully understood, but solid solutions of lead calcium apatite are thought to play an important role. This study investigated the microstructure of a lead pipe, supplied with high-alkalinity tap water, in which the lead calcium apatite crystals were spherulitic having rounded and dumb-bell-shaped morphologies.

Kinetics of Metastable Argon Optical Excitation and Gain in Ar/He Microplasmas.

The optically pumped rare-gas metastable laser is capable of high-intensity lasing on a broad range of near-infrared transitions for excited-state rare gas atoms (Ar*, Kr*, Ne*, Xe*) diluted in flowing He. The lasing action is generated by photoexcitation of the metastable atom to an upper state, followed by collisional energy transfer with He to a neighboring state and lasing back to the metastable state. The metastables are generated in a high-efficiency electric discharge at pressures of ∼0.

The ovine Type II Gaucher disease model recapitulates aspects of human brain disease.

Acute neuronopathic (type II) Gaucher disease (GD) is a devastating, untreatable neurological disorder resulting from mutations in the glucocerebrosidase gene (GBA1), with subsequent accumulation of glucosylceramide and glucosylsphingosine. Patients experience progressive decline in neurological function, with onset typically within the first three-to-six months of life and premature death before two years. Mice and drosophila with GD have been described, however little is known about the brain pathology observed in the naturally occurring ovine model of GD.