Cover: Parkinson's disease affects tyrosine-hydroxylase-expressing dopaminergic neurons and results in specific motor and non-motor symptoms. With high-resolution whole-brain light-sheet imaging, it is now possible to map every tyrosine-hydroxylase-expressing neuron in the mouse brain and study the underlying mechanisms of Parkinson's disease. See article by Roostalu et al. (dmm042200). Cover image is licensed under a Creative Commons Attribution 4.0 International license.
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The role of noncoding mutations in blood cancers
Summary: This Review highlights the challenging but rewarding search for somatic mutations in the noncoding genome, and how such variants nucleate aberrant enhancers and promoters that drive the expression of proto-oncogenes.
Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid
Summary: Neural tube defects in a folic-acid-responsive, folate-sensitive mouse model are associated with a localised proliferation defect in the neuroepithelium. Supplemental folic acid stimulates progression through S phase to correct this abnormality.
Quantitative whole-brain 3D imaging of tyrosine hydroxylase-labeled neuron architecture in the mouse MPTP model of Parkinson's disease
Summary: Whole-brain immunolabeling, mapping and absolute quantification of tyrosine hydroxylase neurons in the adult mouse brain provides a useful tool for studying changes in dopaminergic signaling in a mouse model of PD.
Adenoviral TMBIM6 vector attenuates ER-stress-induced apoptosis in a neonatal hypoxic-ischemic rat model
Summary: Elucidating the role of Bax inhibitor 1 (BI-1) and its mechanisms in the pathophysiology of hypoxic ischemic encephalopathy may help provide a basis for BI-1 as a potential therapeutic target in clinics.
Impaired neural differentiation and glymphatic CSF flow in the Ccdc39 rat model of neonatal hydrocephalus: genetic interaction with L1cam
Summary: Glymphatic CSF circulation and development of the cerebral cortex are impaired in our new genetic rat model of neonatal hydrocephalus with the onset of parenchymal inflammation and hemorrhage.
Perturbation of the titin/MURF1 signaling complex is associated with hypertrophic cardiomyopathy in a fish model and in human patients
Summary: The authors identified and characterized a medaka mutation in titin that leads to a phenotype similar to hypertrophic cardiomyopathy. Similar mutations were also observed in human patients.
Novel mouse model of encephalocele: post-neurulation origin and relationship to open neural tube defects
Summary: Encephalocele is a severe congenital brain defect that arises after neural tube closure, but can share a common genetic cause with defects of cranial and spinal neural tube closure.
Lack of whey acidic protein (WAP) four-disulfide core domain protease inhibitor 2 (WFDC2) causes neonatal death from respiratory failure in mice
Summary: Wfdc2 is vitally important in preventing atelectasis and dysfunction of barrier mechanisms such as mucociliary clearance, intercellular junction formation and anti-inflammatory activity.
Harnessing region-specific neurovascular signaling to promote germinal matrix vessel maturation and hemorrhage prevention
Summary: Temporal and dose-specific enhancement of regional neurovascular signaling improves germinal matrix vessel development and demonstrates, in principle, a new approach for germinal matrix hemorrhage intervention.
Targeted knockout of GABA-A receptor gamma 2 subunit provokes transient light-induced reflex seizures in zebrafish larvae
Summary: The authors present a novel in vivo genetic model of idiopathic epilepsy in zebrafish (gabrg2−/−) to aid the study of ictogenesis and provide a convenient genetic tool for drug screening.
Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG
Editor's choice: Drug repurposing screens using worm and patient fibroblast models of PMM2-CDG led to the discovery of epalrestat, the first activator of PMM2 that targets the root cause of disease.
Drug screens of NGLY1 deficiency in worm and fly models reveal catecholamine, NRF2 and anti-inflammatory-pathway activation as potential clinical approaches
Summary: Using worm and fly models of an ultra-rare congenital disorder of glycosylation, we performed repurposing screens and identified the FDA-approved drug aripiprazole as a clinical candidate.
SILAC-based quantitative proteomics using mass spectrometry quantifies endoplasmic reticulum stress in whole HeLa cells
Summary: A novel observation point of a familiar scenario: proteomic quantification of over 6200 proteins as a resource to further explore endoplasmic reticulum stress.
DMM Journal Meeting 2023: Infectious Diseases Through an Evolutionary Lens
We are delighted to announce that our 2023 Journal Meeting ‘Infectious Diseases Through an Evolutionary Lens’ will be held from 17-19 October 2023 in London, UK. Registration is open now.
The Forest of Biologists
We are excited to announce the launch of The Forest of Biologists, a new biodiversity initiative created with support from the Woodland Trust, aiming to counteract nature loss and safeguard some of the most critically endangered ecosystems for future generations. For every Research Article and Review article that is published in one of our five journals a native tree is planted in a forest in the UK. Take a look at our virtual forest online now.
Propose a new workshop for 2025
Do you have an idea for a Workshop? If so, click here. We are now accepting proposals for our 2025 Biologists Workshops programme. As the scientific organiser, your involvement will be focused on the science. We'll take care of all the logistics. In 2025 we'll continue our efforts to diversify our Workshop programme and will be reserving one of our Workshops for an application from a Global South (GS) country to host an event overseas.
New drugs to squash the spread of malaria
In this Research Article, the Baum lab identify a new class of antimalarials to block Plasmodium gamete formation. This article has been highlighted as our Editor’s Choice, and you can find out more in our interview with first author Sabrina Yahiya.
The shifting culture of the scientific workforce – a change for women and girls in science
February 11 marks The International Day of Women and Girls in Science (IDWGS) a celebration of the achievements of female scientists, and a call to action for a culture shift in science. Click here to read more about the day