Issues

Summary: Overview of the recent progress in our understanding of congenital diarrheal disorders, and the available models to study these diseases.

Editors' choice: Slc9a6 knockout mice are a model of the X-linked neurodevelopmental and neurological disorder, Christianson syndrome. We show that heterozygous female mice express mosaic changes comparable to neuropathological abnormalities identified in mutant males.

Summary: Labrador retrievers with hereditary copper toxicosis are a useful new model for copper-metabolism disorders.

Summary: This study provides the first evidence in human models of spinal muscular atrophy of impaired mitochondrial dynamics, which serve as potential therapeutic targets for this devastating disease.

Summary: Evidence supporting a functional interaction between the endocannabinoid system and the mTORC1 pathway within the endocrine pancreas, which could have implications for the development of new therapeutic approaches for diabetes.

Summary: The results suggest that the bromocriptine alginate nanocomposite is potent in reducing the symptoms of Parkinson's disease in a transgenic fly model of the disease.

Summary: Acute otitis media is an important disease in children. We describe a new infection model for translational research that uses the Junbo mouse mutant intranasally inoculated with non-typeable Haemophilus influenzae.

Summary: The authors used urine-sample-derived patient-specific human induced pluripotent stem cells to generate hepatocytes carrying gain- or loss-of-function mutations of PCSK9, and mimicking the pathophysiology in vitro.

Summary: Quantifying not only aerated lung volume or lesion volumes but also the total lung volume from micro-CT is essential to document growth as well as potential compensatory mechanisms in the evaluation of mouse models of lung diseases and their therapy.