Summary: Rodent models of Parkinson's disease partially develop prodromal somatosensory and olfactory dysfunctions reminiscent of sensory neuropathies in patients and reveal mechanistic insight, but data are incomplete and fragmented.
Summary: This Review discusses the applications of human iPSCs as preclinical models of cell and gene therapy for inherited monogenic blood disorders, as well as their more recent use as models of myeloid malignancies.
Summary: Epithelial deletion of Cbfb results in an anterior cleft palate with impaired fusion of the palatal process; folic acid application rescues the mutant phenotype with Stat3 activation in vitro.
Developmental origins for semilunar valve stenosis identified in mice harboring congenital heart disease-associated GATA4 mutation
Summary: Cellular and molecular characterization of a mutant mouse, harboring a human disease-causing GATA4 variant, identifies cellular deficits in endothelial-to-mesenchymal transition and proliferation that cause abnormal valve remodeling and resultant stenosis.
Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate
Editor's choice: Mutations in the collagen 3-prolyl hydroxylation complex cause a cellular stress that is rescued by the chaperone ability of 4-phenylbutyrate.
Anti-tumour effects of antimicrobial peptides, components of the innate immune system, against haematopoietic tumours in Drosophila mxc mutants
Summary: Antimicrobial peptides can interact with tumour cells generated in a haematopoietic tissue in Drosophila mxc mutants and have a tumour-suppressive effect on their growth.
Increased levels of synaptic proteins involved in synaptic plasticity after chronic intraocular pressure elevation and modulation by brain-derived neurotrophic factor in a glaucoma animal model
Summary: Application of BDNF increased the expression of synaptic vesicle proteins in the inner retina via the p-Akt, CaMKII and CREB pathways, increasing F-actin in RGC dendrites.
Loss of function of Colgalt1 disrupts collagen post-translational modification and causes musculoskeletal defects
Summary: The authors characterized a novel mouse mutant that has a defect in collagen glycosylation, which appears to affect muscle development. There is very little functional characterization of the affected gene, but this study provides analysis of its embryonic phenotype and the biochemistry of the null mutant, as well as the phenotype of null-mutant zebrafish.
Summary: Selective reduction in N-glycan occupancy impacts the processing of two receptor tyrosine kinases by increasing their ER localization and compromising the activity of the convertases responsible for their maturation.
Sensitive bioluminescence imaging of fungal dissemination to the brain in mouse models of cryptococcosis
Summary: A novel combination of bioluminescence and anatomical imaging non-invasively identified the timeframe and extent of Cryptococcus neoformans dissemination to the brain in animal models of systemic and pulmonary fungal infection.