A MODEL FOR LIFE
FIRST PERSON
REVIEWS
- The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy
Summary: Dystroglycan is a ubiquitous matrix receptor linked to brain and muscle disease. Unraveling the functions of this protein will inform basic and translational research on neural development and muscular dystrophies.
- Hypoxia and connectivity in the developing vertebrate nervous system
Summary: The nervous system's exposure to hypoxia has developmental and clinical relevance. In this Review, the authors discuss the effects of hypoxia on the development of the CNS, and its long-term behavioral and neurodevelopmental consequences.
RESEARCH ARTICLES
- A viable hypomorphic Arnt2 mutation causes hyperphagic obesity, diabetes and hepatic steatosis
Summary: A forward genetic approach identified genes involved in maintaining normal body weight. A mutation in Arnt2 caused obesity by regulating food intake.
- Dietary advanced glycation end-product consumption leads to mechanical stiffening of murine intervertebral discs
Summary: Dietary AGEs lead to sex-specific intervertebral disc structural and functional changes and may be targeted for promoting spinal health, especially in diabetes, in which AGEs form rapidly.
- Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function
Summary: Here, we show that partial loss-of-function mutations in the Idh3a gene lead to retinal degeneration due to compromised mitochondrial function. Complete loss of Idh3a, however, is embryonically lethal.
- Leukemia development initiated by deletion of RBP-J: mouse strain, deletion efficiency and cell of origin
Summary: Using a mouse model of precursor B-cell leukemia, we have investigated influencing factors on leukemia genesis, including genetic background, cell of origin and deletion efficiency.
- Semiology, clustering, periodicity and natural history of seizures in an experimental occipital cortical epilepsy model
Summary: Tetanus-toxin-induced occipital cortical epilepsy is a rodent model of acquired focal neocortical epilepsy well-suited for preclinical evaluation of novel anti-epileptic strategies.
- Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms
Summary: Collagen COL22A1 is expressed in perivascular fibroblast-like cells and is required to maintain vascular stability in a zebrafish model. Mutations in COL22A1 are likely to be associated with intracranial aneurysms.
- Muscle strength deficiency and mitochondrial dysfunction in a muscular dystrophy model of Caenorhabditis elegans and its functional response to drugs
Editor's choice: Dystrophin-deficient Caenorhabditis elegans have measurably weak muscle strength and mitochondrial dysfunction, and they respond to drug treatments standard in treating human Duchenne muscular dystrophy.
- Macrophages enhance Vegfa-driven angiogenesis in an embryonic zebrafish tumour xenograft model
Summary: Zebrafish embryonic macrophages associate with the distal tips of tumour xenograft blood vessels and are required for Vegfa-driven angiogenesis.
- Effect of dietary additives on intestinal permeability in both Drosophila and a human cell co-culture
Summary: Sugar and other food additives can inhibit gut barrier function in both human cell co-cultures and Drosophila melanogaster.
RESOURCE ARTICLES
- Juvenile murine models of prediabetes and type 2 diabetes develop neuropathy
Summary: The mouse models described in this paper provide critical tools to better understand the underlying pathogenesis of prediabetic and diabetic neuropathy from youth to adulthood.
- Identifying mouse developmental essential genes using machine learning
Summary: Here, we used computer-based machine learning methodology to predict which genes in the mouse genome are essential for development, and present a database of mouse essential and non-essential genes.
- Establishment of a murine culture system for modeling the temporal progression of cranial and trunk neural crest cell differentiation
Summary: A novel method for isolating and expanding primary neural crest cells, and establishment of reproducible temporal benchmarks of differentiation, provides a potential screening platform for developmental toxicity or therapeutic capacity.
- CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance
Summary: Here, we provide a CRISPR-Cas9 human gene replacement and phenomic characterization strategy to directly replace Caenorhabditis elegans genes with their human orthologs for disease variant modeling and therapeutic screening.