Issues
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Cover image
Cover Image
Cover: In Drosophila Parkinson's disease (PD) models, the climbing performance of animals is severely impaired, which is comparable with motor symptoms in PD. The image highlights a subgroup of dopaminergic protocerebral anterior medial neurons (green) important for climbing performance in the adult Drosophila brain. Additionally, brains were stained for Tyrosine hydroxylase generally expressed in dopaminergic cells (magenta) and for Lamin (blue) as a nuclear membrane marker. See article by Pütz et al. (dmm047811), which describes a causative relationship between loss of the p21-activated kinase Mbt/PAK4 and the appearance of PD-like symptoms in Drosophila, including age-dependent climbing performance and sleep fragmentation. Cover image is licensed under a Creative Commons Attribution 4.0 International license.
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EDITOR'S CHOICE
EDITORIAL
PERSPECTIVE
Advancing lung organoids for COVID-19 research
Summary: Pulmonary organoid model systems for COVID-19 research have played a significant role in understanding SARS-CoV-2 pathogenesis and may change the way we screen for potential antivirals in the future.
REVIEWS
Studying Müllerian duct anomalies – from cataloguing phenotypes to discovering causation
Summary: Here, we review the current knowledge about Müllerian duct anomalies in the context of new high-throughput technologies and model systems and their implications in the prevention of these disorders.
Mitochondrial function in development and disease
Summary: Mitochondria have a plethora of functions beyond metabolism. This Review discusses the emerging and multifaceted roles of mitochondria in different model organisms and human disease biology.
RESEARCH ARTICLES
Loss of phosphatidylserine flippase β-subunit Tmem30a in podocytes leads to albuminuria and glomerulosclerosis
Summary: Using analyses of podocyte-specific Tmem30a knockout mice and TMEM30A expression in patients with podocytopathy, we demonstrate a critical role of Tmem30a in maintaining podocyte survival and glomerular filtration barrier integrity.
Ronin overexpression induces cerebellar degeneration in a mouse model of ataxia
Summary: Ronin is a polyglutamine protein encoded in a region of human chromosome 16q22.1 linked to spinocerebellar ataxia type 4. Overexpression of Ronin in mouse cerebellar Purkinje cells leads to their loss and ataxia.
Saturation mutagenesis defines novel mouse models of severe spine deformity
Summary: We report selected mouse models of spine deformity following mutagenesis across 30% of autosomal genes, results of which are made publicly available to advance understanding of spine development and disease.
Transcriptomic analyses of gastrulation-stage mouse embryos with differential susceptibility to alcohol
Editor's choice: RNA-sequencing in gastrulation-stage mouse embryos provides information about gene expression patterns during normal mouse development and evidence that pre-existing genetic variability mediates risk to prenatal alcohol-induced birth defects.
Zebrafish mbnl mutants model physical and molecular phenotypes of myotonic dystrophy
Summary: We generated a panel of single, double and triple homozygous zebrafish mbnl mutants to model myotonic dystrophy. They exhibited decreased body size, impaired movement and widespread, disease-relevant alternative splicing changes.
Loss of p21-activated kinase Mbt/PAK4 causes Parkinson-like phenotypes in Drosophila
Summary: Loss of p21-activated kinase Mbt (the PAK4 homolog) causes Parkinson-like phenotypes in Drosophila, including age-dependent movement deficits, shortened life expectancy and fragmented sleep. Generation of dopaminergic neurons from neural progenitors during development is impaired.
Development of a physiologically relevant and easily scalable LUHMES cell-based model of G2019S LRRK2-driven Parkinson's disease
Summary: Using Lund human mesencephalic cell-derived dopaminergic neurons, we developed a translational model of Parkinson's disease (PD) for the study of PD biology and for high-throughput screening for the identification of small-molecule PD therapeutics.
Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease
Summary: We developed mouse models for the blistering genetic skin disorder dominant dystrophic epidermolysis bullosa (DDEB) by introducing mutations into mouse Col7a1. These models should help to improve the understanding and treatment of DDEB.
FIRST PERSON
Call for Papers – Infectious Disease: Evolution, Mechanisms and Global Health
Showcase your latest research on our upcoming Special Issue: Infectious Disease: Evolution, Mechanisms and Global Health. This issue will be coordinated by DMM Editors Sumana Sanyal and David Tobin alongside Guest Editors Judi Allen and Russell Vance. The deadline for submitting articles to this Special Issue is Monday 20 January 2025.
Biologists @ 100 - join us in Liverpool in March 2025
We are excited to invite you to a unique scientific conference, celebrating the 100-year anniversary of The Company of Biologists, and bringing together our different communities. The conference will incorporate a DMM programme on antimicrobial resistance on 26 March 2025. Find out more and register to join us in March 2025 in Liverpool, UK.
New Special Issue: Translating Multiscale Research in Rare Disease. Edited by Monica Justice, Monkol Lek, Karen Liu and Kate Rauen.
This special issue features original Research, Resources & Methods and Review-type articles that aim to interrogate the mechanisms of rare diseases to foster meaningful clinical progress in their diagnosis and treatment.
The role of the International Society for Stem Cell Research guidelines in disease modelling
The International Society for Stem Cell Research (ISSCR) provides comprehensive guidelines and standards for using human stem cells in biomedical research. In this Editorial, Cody Juguilon and Joseph Wu discuss how and why these should be incorporated in disease modelling research.
Read & Publish Open Access publishing: what authors say
We have had great feedback from authors who have benefitted from our Read & Publish agreement with their institution and have been able to publish Open Access with us without paying an APC. Read what they had to say.