Summary: Overview of the recent progress in our understanding of congenital diarrheal disorders, and the available models to study these diseases.
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities
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.
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders
Summary: Labrador retrievers with hereditary copper toxicosis are a useful new model for copper-metabolism disorders.
Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy
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.
The cannabinoid CB1 receptor and mTORC1 signalling pathways interact to modulate glucose homeostasis in mice
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.
Effect of bromocriptine alginate nanocomposite (BANC) on a transgenic Drosophila model of Parkinson's disease
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.
Urine-sample-derived human induced pluripotent stem cells as a model to study PCSK9-mediated autosomal dominant hypercholesterolemia
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.
Longitudinal micro-CT provides biomarkers of lung disease that can be used to assess the effect of therapy in preclinical mouse models, and reveal compensatory changes in lung volume
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.