DnaJ-PKAc fusion induces liver inflammation in a zebrafish model of fibrolamellar carcinoma [RESEARCH ARTICLE]
This article has an associated First Person interview with the first author of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - April 29, 2020 Category: Biomedical Science Authors: de Oliveira, S., Houseright, R. A., Korte, B. G., Huttenlocher, A. Tags: Rare diseases, Zebrafish as a Disease Model RESEARCH ARTICLE Source Type: research
Zika virus non-structural protein NS4A restricts eye growth in Drosophila through regulation of JAK/STAT signaling [RESEARCH ARTICLE]
This article has an associated First Person interview with the first author of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - April 29, 2020 Category: Biomedical Science Authors: Harsh, S., Fu, Y., Kenney, E., Han, Z., Eleftherianos, I. Tags: Drosophila as a Disease Model RESEARCH ARTICLE Source Type: research
Zebrafish as a tool to study schizophrenia-associated copy number variants [REVIEW]
ABSTRACT
Schizophrenia remains one of the most debilitating human neurodevelopmental disorders, with few effective treatments and striking consequences felt by individuals, communities and society as a whole. As such, there remains a critical need for further investigation into the mechanistic underpinnings of schizophrenia so that novel therapeutic targets can be identified. Because schizophrenia is a highly heritable disorder, genetic risk factors remain an attractive avenue for this research. Given their clear molecular genetic consequences, recurrent microdeletions and duplications, or copy number variants (CNVs), repr...
Source: DMM Disease Models and Mechanisms - April 28, 2020 Category: Biomedical Science Authors: Campbell, P. D., Granato, M. Tags: Zebrafish as a Disease Model REVIEW Source Type: research
Leptin and fractalkine: novel subcutaneous cytokines in burn injury [RESEARCH ARTICLE]
ABSTRACT
Burn injury is a pathology underpinned by progressive and aberrant inflammation. It is a major clinical challenge to survival and quality of life. Although the complex local and disseminating pathological processes of a burn injury ultimately stem from local tissue damage, to date relatively few studies have attempted to characterise the local inflammatory mediator profile. Here, cytokine content and associated transcriptional changes were measured in rat skin for three hours immediately following induction of a scald-type (60°C, 2 min) burn injury model. Leptin (P=0.0002) and fractalkine (P=0.0478) conce...
Source: DMM Disease Models and Mechanisms - April 28, 2020 Category: Biomedical Science Authors: Friston, D., Junttila, S., Lemes, J. B. P., Laycock, H., Torres-Perez, J. V., Want, E., Gyenesei, A., Nagy, I. Tags: RESEARCH ARTICLE Source Type: research
Novel defatting strategies reduce lipid accumulation in primary human culture models of liver steatosis [RESEARCH ARTICLE]
In conclusion, culture models, notably PCLS, are insightful to design strategies for liver graft rescue. Defatting can be rapidly achieved by combinations of drugs targeting mitochondrial oxidative metabolism, macro-autophagy and lipogenesis. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - April 28, 2020 Category: Biomedical Science Authors: Aoudjehane, L., Gautheron, J., Le Goff, W., Goumard, C., Gilaizeau, J., Nget, C. S., Savier, E., Atif, M., Lesnik, P., Morichon, R., Chretien, Y., Calmus, Y., Scatton, O., Housset, C., Conti, F. Tags: Metabolic Disorders RESEARCH ARTICLE Source Type: research
Familial hypercholesterolemia class II low-density lipoprotein receptor response to statin treatment [RESEARCH ARTICLE]
ABSTRACT
Low-density lipoprotein (LDL) receptor (LDLR) mutations are the primary cause of familial hypercholesterolemia (FH). Class II LDLR mutations result in a misfolded LDLR retained in the endoplasmic reticulum (ER). We have developed a model of FH class II and CRISPR-corrected induced pluripotent stem cells (iPSC) capable of replicating mutant and repaired LDLR functions. We show here that iPSC and derived hepatocyte-like cells (HLC) replicate misfolded LDLR accumulation and restoration of LDLR function in CRISPR-corrected cells. It was reported that model cells overexpressing class II LDLR mutants result in endoplasm...
Source: DMM Disease Models and Mechanisms - April 5, 2020 Category: Biomedical Science Authors: Omer, L., Hindi, L., Militello, G., Stivers, K. B., Tien, K. C., Boyd, N. L. Tags: Metabolic Disorders RESEARCH ARTICLE Source Type: research
First person - Mami Uemura and Mayumi Higashi [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers. Mami Uemura and Mayumi Higashi are joint first authors on ‘Gallbladder wall abnormality in biliary atresia of mouse Sox17+/– neonates and human infants’, published in DMM. Mami is a researcher in the lab of Yoshiakira Kanai at the Department of Veterinary Anatomy, the University of Tokyo, Japan, investigating the pathologic clarification of hepatobiliary diseases such as biliary atresi...
Source: DMM Disease Models and Mechanisms - April 2, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Gallbladder wall abnormality in biliary atresia of mouse Sox17+/- neonates and human infants [RESEARCH ARTICLE]
This article has an associated First Person interview with the joint first authors of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - April 2, 2020 Category: Biomedical Science Authors: Uemura, M., Higashi, M., Pattarapanawan, M., Takami, S., Ichikawa, N., Higashiyama, H., Furukawa, T., Fujishiro, J., Fukumura, Y., Yao, T., Tajiri, T., Kanai-Azuma, M., Kanai, Y. Tags: RESEARCH ARTICLE Source Type: research
Casting a wide net: use of diverse model organisms to advance toxicology [EDITORIAL]
ABSTRACT
Toxicology – the study of how chemicals interact with biological systems – has clear relevance to human health and disease. Persistent exposure to natural and synthetic chemicals is an unavoidable part of living on our planet; yet, we understand very little about the effects of exposure to the vast majority of chemicals. While epidemiological studies can provide strong statistical inference linking chemical exposure to disease, research in model systems is essential to elucidate the mechanisms of action and to predict outcomes. Most research in toxicology utilizes a handful of mammalian models that rep...
Source: DMM Disease Models and Mechanisms - March 31, 2020 Category: Biomedical Science Authors: Hahn, M. E., Sadler, K. C. Tags: Editorials, Zebrafish as a Disease Model Source Type: research
First person - Meagan S. Siehr [FIRST PERSON]
ABSTRACT
First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers. Meagan S. Siehr is first author on ‘ Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome’, published in DMM. Meagan conducted the research described in this article while a predoctoral fellow in Jeffrey L. Noebels's lab at the Department of Molecular and Human Genetics, Baylor College...
Source: DMM Disease Models and Mechanisms - March 29, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Zebrafish models of sarcopenia [REVIEW]
ABSTRACT
Sarcopenia – the accelerated age-related loss of muscle mass and function – is an under-diagnosed condition, and is central to deteriorating mobility, disability and frailty in older age. There is a lack of treatment options for older adults at risk of sarcopenia. Although sarcopenia's pathogenesis is multifactorial, its major phenotypes – muscle mass and muscle strength – are highly heritable. Several genome-wide association studies of muscle-related traits were published recently, providing dozens of candidate genes, many with unknown function. Therefore, animal models are required not on...
Source: DMM Disease Models and Mechanisms - March 29, 2020 Category: Biomedical Science Authors: Daya, A., Donaka, R., Karasik, D. Tags: Neuromuscular, Zebrafish as a Disease Model REVIEW Source Type: research
Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome [RESEARCH ARTICLE]
This article has an associated First Person interview with the first author of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - March 29, 2020 Category: Biomedical Science Authors: Siehr, M. S., Massey, C. A., Noebels, J. L. Tags: Rare diseases RESEARCH ARTICLE Source Type: research
FX11 limits Mycobacterium tuberculosis growth and potentiates bactericidal activity of isoniazid through host-directed activity [RESEARCH ARTICLE]
ABSTRACT
Lactate dehydrogenase A (LDHA) mediates interconversion of pyruvate and lactate, and increased lactate turnover is exhibited by malignant and infected immune cells. Hypoxic lung granuloma in Mycobacterium tuberculosis-infected animals present elevated levels of Ldha and lactate. Such alterations in the metabolic milieu could influence the outcome of host-M. tuberculosis interactions. Given the central role of LDHA for tumorigenicity, targeting lactate metabolism is a promising approach for cancer therapy. Here, we sought to determine the importance of LDHA for tuberculosis (TB) disease progression and its potentia...
Source: DMM Disease Models and Mechanisms - March 29, 2020 Category: Biomedical Science Authors: Krishnamoorthy, G., Kaiser, P., Abu Abed, U., Weiner, J., Moura-Alves, P., Brinkmann, V., Kaufmann, S. H. E. Tags: RESEARCH ARTICLE Source Type: research
A murine model demonstrates capsule-independent adaptive immune protection in survivors of Klebsiella pneumoniae respiratory tract infection [RESEARCH ARTICLE]
ABSTRACT
Klebsiella pneumoniae represents a growing clinical threat, given its rapid development of antibiotic resistance, necessitating new therapeutic strategies. Existing live-infection models feature high mortality rates, limiting their utility in the study of natural adaptive immune response to this pathogen. We developed a preclinical model of pneumonia with low overall mortality, in which previously exposed mice are protected from subsequent respiratory tract challenge with K. pneumoniae. Histologic analyses of infected murine lungs demonstrate lymphocytic aggregates surrounding vasculature and larger airways. Initi...
Source: DMM Disease Models and Mechanisms - March 25, 2020 Category: Biomedical Science Authors: Twentyman, J., Morffy Smith, C., Nims, J. S., Dahler, A. A., Rosen, D. A. Tags: RESEARCH ARTICLE Source Type: research
Control of translation elongation in health and disease [REVIEW]
ABSTRACT
Regulation of protein synthesis makes a major contribution to post-transcriptional control pathways. During disease, or under stress, cells initiate processes to reprogramme protein synthesis and thus orchestrate the appropriate cellular response. Recent data show that the elongation stage of protein synthesis is a key regulatory node for translational control in health and disease. There is a complex set of factors that individually affect the overall rate of elongation and, for the most part, these influence either transfer RNA (tRNA)- and eukaryotic elongation factor 1A (eEF1A)-dependent codon decoding, and/or ...
Source: DMM Disease Models and Mechanisms - March 25, 2020 Category: Biomedical Science Authors: Knight, J. R. P., Garland, G., Pöyry, T., Mead, E., Vlahov, N., Sfakianos, A., Grosso, S., De-Lima-Hedayioglu, F., Mallucci, G. R., von der Haar, T., Smales, C. M., Sansom, O. J., Willis, A. E. Tags: Neurodegenerative disorders, Cancer REVIEW Source Type: research
