Issues
-
Cover image
Cover Image
Cover: Confocal micrograph from a mid-gestation PdgrfaGFP/+ mouse embryo in which cyan represents Pdgfrα+ cells and red represents Pecam1+ endothelial cells. Pdgfrα expression in endothelial-derived cells influences neural crest behavior and cardiac outflow tract development. Loss of Pdgfrα in endothelium and endothelial-derived cells results in congenital heart defects, including double outlet right ventricle and transposition of the great arteries. See article by Aghajanian et al. on page 1101. Cover image by Haig Aghajanian is licensed under a Creative Commons Attribution 4.0 International licence.
- PDF Icon PDF LinkTable of contents
- PDF Icon PDF LinkIssue info
REVIEWS
Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies
Summary: This Review discusses how human pluripotent stem cells have revolutionised the study of cardiac disease, highlighting their impact in investigating pathogenesis and their use in drug discovery, as well as current challenges facing the field.
Mouse models of metastasis: progress and prospects
Summary: This Review describes the currently available mouse models of metastasis, focusing on the mechanistic and therapeutic insights that have been gained by their application, strengths and weaknesses of different models and key technological advances that are generating more refined models.
PERSPECTIVE
Mitochondrial dynamics in Parkinson's disease: a role for α-synuclein?
Summary: The authors review the α-synuclein structural, biophysical and biochemical properties that influence relevant mitochondrial physiological processes such as fusion-fission, transport and clearance, and propose that α-synuclein contributes to the mitochondrial defects that are associated with Parkinson's disease.
RESEARCH ARTICLES
Loss of Cln5 causes altered neurogenesis in a mouse model of a childhood neurodegenerative disorder
Editors’ choice: This study demonstrates neurogenic alterations in the most common neurodegenerative disease of children and reports a novel function of the CLN5 protein.
Pdgfrα functions in endothelial-derived cells to regulate neural crest cells and the development of the great arteries
Summary: Loss of Pdgfrα in endothelial-derived mesenchyme results in defective neural crest behavior and is associated with conotruncal defects including, surprisingly, transposition of the great arteries.
NFκB signaling in alveolar rhabdomyosarcoma
Summary: In a genetically engineered mouse model of aRMS, disrupting the NFκB pathway facilitated tumor initiation, suggesting it is a modifier of the disease rather than the driver.
Trimebutine, a small molecule mimetic agonist of adhesion molecule L1, contributes to functional recovery after spinal cord injury in mice
Summary: Small molecule L1CAM mimetics, showing L1 functions by promoting neurite outgrowth and neuronal survival in vitro, are now shown in vivo, with correlated signal transduction, to promote recovery after injury.
RESOURCE ARTICLES
Early-onset torsion dystonia: a novel high-throughput yeast genetic screen for factors modifying protein levels of torsinAΔE
Summary: A novel high-throughput, automated, genome-wide yeast screen was used to identify genetic modifiers of the steady-state levels of proteins of the dystonia-associated torsinAΔE variant. This article has an associated First Person interview with the first author of the paper as part of the supplementary information.
Lipidomic profiling of patient-specific iPSC-derived hepatocyte-like cells
Summary: The lipidome of stem cells is remodelled in response to supplies available in the cell culture media, and as a result of changing expression of genes involved in lipid metabolism, as the cells differentiate and mature towards functional HLCs.
Screening in larval zebrafish reveals tissue-specific distribution of fifteen fluorescent compounds
Summary: Fifteen fluorescent compounds have tissue-specific distributions in zebrafish larvae: three anthraquinones were identified as bone dyes in live vertebrates, and two chemotherapeutic drugs were shown to have distinct preferences for the liver.
DMM Journal Meeting 2024: Pre-clinical Modelling of Human Genetic Disease and Therapy

Registration is now open for our 2024 Journal Meeting. Rapid advances in gene editing and genetic technologies have revolutionised our ability to model human genetic disease and provided new hope for gene therapies. At this Meeting, we will present the very latest advances in modelling human genetic disease.
Moving towards heart success – Disease Models & Mechanisms Special Issue

DMM's most recent special issue compiles articles that aim to move heart failure to heart success by fundamentally addressing the roots of failure to identify curative strategies.
Crossroads in Virology

Our October Editorial written by Sumana Sanyal emphasises the urgency of a concerted effort in understanding virus–host interactions to inform the development of therapeutics and vaccines, helping to predict disease outcomes. Read the full Editorial here.
A Model for Life - an interview with Professor Kiran Musunuru




Read our new A Model for Life interview with Kiran Musunuru. Prof Musunuru investigates the mechanisms of disease in model systems, with the ultimate goal of developing innovative gene editing therapies.
Sustainable Conferencing Initiative

Through our Sustainable Conferencing Grants, we promote the use of new technology and greener modes of travel. Our blog posts showcase examples of sustainability in action and share experience about how new technologies and conference formats work in practice.