This issue is currently being compiled. Articles in their final version of record are published here as soon as they are ready. The most recent articles appear at the top of the relevant section.
AT A GLANCE
- Modeling neurodegeneration in Caenorhabditis elegans
Summary: While unsurpassed as an experimental system for fundamental biology, Caenorhabditis elegans remains undervalued for its translational potential. Here, we highlight significant outcomes from, and resources available for, C. elegans-based research into neurodegenerative disorders.
REVIEW
- Cellular and animal models for facioscapulohumeral muscular dystrophy
Summary: Owing to its complex etiology and the toxicity of DUX4, modeling facioscapulohumeral muscular dystrophy (FSHD) is uniquely challenging. Here, we review the approaches that overcame these difficulties to develop highly relevant FSHD models.
RESEARCH ARTICLES
- Cells expressing PAX8 are the main source of homeostatic regeneration of adult mouse endometrial epithelium and give rise to serous endometrial carcinoma
Summary: The study describes a single-cell transcriptomic atlas of the mouse uterus and shows that PAX8+ cells are responsible for long-term maintenance of endometrial epithelium and might represent the cell of origin of serous endometrial carcinoma.
- Progenitor death drives retinal dysplasia and neuronal degeneration in a mouse model of ATRIP-Seckel syndrome
Summary: Retinopathies have been reported in primordial dwarfism syndromes. We show that the loss of Atrip, a gene mutated in Seckel syndrome, causes photoreceptor degeneration owing to p53-dependent apoptosis of retinal progenitors during development.
- A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
Summary: The Spag17pcdo mouse model closely recapitulates the human central pair primary ciliary dyskinesia condition, and the data here reinforce the power of the hypomorphic allele in representing human conditions.
- Chronic administration of P2X7 receptor antagonist JNJ-47965567 delays disease onset and progression, and improves motor performance in ALS SOD1G93A female mice
Summary: This study implicates the P2X7 receptor (P2X7R) in amyotrophic lateral sclerosis progression in mice and shows that the effectiveness of treatment with P2X7R antagonists is sex dependent.
- An HIV-Tat inducible mouse model system of childhood HIV-associated nephropathy
Summary: The development of a new inducible mouse model system of childhood HIV-associated nephropathy demonstrated that HIV-Tat plays a critical role in this disease, acting in synergy with other HIV-1 genes and heparin-binding cytokines.
- Machine learning discriminates a movement disorder in a zebrafish model of Parkinson's disease
Summary: Using computational analyses to harness artificial intelligence, we have tested a genetic model of Parkinson's disease and reveal a distinct movement phenotype in adult zebrafish lacking Dj-1.
- CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons
Summary: Cell viability, expression and immunocytochemical analyses reveal that mutations in STUB1 that cause SCAR16 impair the heat-shock response in patient-derived fibroblasts, but not in iPSC-derived cortical neurons.
- The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model
Editor’s choice: Heritable pheochromocytoma/paraganglioma follows the Arg230His missense mutation in SDHB in mitochondrial complex II. By mutating this highly conserved ortholog in C. elegans, we generated a tractable phenotype.
This issue
Other journals from The Company of Biologists
DMM and COVID-19
We are aware that the COVID-19 pandemic is having an unprecedented impact on researchers worldwide. The Editors of all The Company of Biologists’ journals have been considering ways in which we can alleviate concerns that members of our community may have around publishing activities during this time. Read about the actions we are taking at this time.
Please don’t hesitate to contact the Editorial Office if you have any questions or concerns.
Travel grants and how to use them (when there’s no travel)
“2020 may be a year of imaginary travel across Zoom backgrounds, but the science is still happening and we’re not planning on missing it.”
Read our Editorial, which explains how DMM and its publisher, The Company of Biologists, have adapted the financial support they provide in response to the ongoing pandemic.
Interviews – Shohei Yoshimoto, Patricia Shaw, Jelmer Hoeksma
First authors Shohei Yoshimoto, Patricia Shaw and Jelmer Hoeksma each take us behind the scenes of their latest papers in DMM, discussing the merits of their model systems, the implications of their work and life as an early-career researcher.
Fibrodysplasia ossificans progressiva: current concepts from bench to bedside
Arun-Kumar Kaliya-Perumal, Tom J. Carney and Philip W. Ingham present a comprehensive summary of the recent literature on this debilitating condition and discuss approaches to solving this clinical puzzle.
Call for papers - The RAS Pathway: Diseases, Therapeutics and Beyond
DMM invites you to submit original research for a special issue focused on targeting the RAS pathway. The submission deadline is 1 March 2021. Find out more and showcase your breakthrough research in this special collection.
Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy
In October’s Editor’s choice, Yamanouchi et al’s newly established rat model exhibits the dystrophic phenotype and abnormal dystrophin expression profile, similar to patients with Becker muscular dystrophy.