First person - Phillipe O'Brien, Kai Guo, Stephanie Eid, Amy Rumora and Lucy Hinder [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. Phillipe O'Brien, Kai Guo, Stephanie Eid, Amy Rumora and Lucy Hinder are first authors on ‘Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes’, published in DMM. Phillipe, Stephanie, Amy and Lucy are all postdoctoral researchers in the lab of Eva L. Feldman at the University of Michigan, MI, USA, investigat...
Source: DMM Disease Models and Mechanisms - January 23, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes [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 - January 23, 2020 Category: Biomedical Science Authors: O'Brien, P. D., Guo, K., Eid, S. A., Rumora, A. E., Hinder, L. M., Hayes, J. M., Mendelson, F. E., Hur, J., Feldman, E. L. Tags: Metabolic Disorders, Neuromuscular RESEARCH ARTICLE Source Type: research
A brief review of peer review in DMM in 2019 [EDITORIAL]
(Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - January 23, 2020 Category: Biomedical Science Authors: Hackett, R. Tags: EDITORIAL Source Type: research
First person - Wedad Fallatah and Tara Smith [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. Wedad Fallatah and Tara Smith are co-first authors on ‘Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata’, published in DMM. Wedad is a PhD student in the lab of Dr Nancy Braverman at the Research Institute of the McGill University Health Center and McGill University, Montreal, QC, Canada, investigatin...
Source: DMM Disease Models and Mechanisms - January 23, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
First person - Sarah Colijn [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. Sarah Colijn is first author on ‘Cell-specific and athero-protective roles for RIPK3 in a murine model of atherosclerosis’, published in DMM. Sarah conducted the research described in this article while a graduate student in Courtney Griffin's lab at Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. She is now a Postdoctoral Research Associate in the lab of Amber Stratman at Wash...
Source: DMM Disease Models and Mechanisms - January 23, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
HCT116 colorectal liver metastases exacerbate muscle wasting in a mouse model for the study of colorectal cancer cachexia [RESEARCH ARTICLE]
ABSTRACT
Colorectal cancer (CRC) is often accompanied by formation of liver metastases (LM) and skeletal muscle wasting, i.e. cachexia. Despite affecting the majority of CRC patients, cachexia remains underserved, understudied and uncured. Animal models for the study of CRC-induced cachexia, in particular models containing LM, are sparse; therefore, we aimed to characterize two new models of CRC cachexia. Male NSG mice were injected subcutaneously (HCT116) or intrasplenically (mHCT116) with human HCT116 CRC tumor cells to disseminate LM, whereas experimental controls received saline (n=5-8/group). Tumor growth was accompan...
Source: DMM Disease Models and Mechanisms - January 23, 2020 Category: Biomedical Science Authors: Huot, J. R., Novinger, L. J., Pin, F., Bonetto, A. Tags: Cancer metabolism RESEARCH ARTICLE Source Type: research
Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata [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 - January 23, 2020 Category: Biomedical Science Authors: Fallatah, W., Smith, T., Cui, W., Jayasinghe, D., Di Pietro, E., Ritchie, S. A., Braverman, N. Tags: Rare diseases RESEARCH ARTICLE Source Type: research
Cell-specific and athero-protective roles for RIPK3 in a murine model of atherosclerosis [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 - January 23, 2020 Category: Biomedical Science Authors: Colijn, S., Muthukumar, V., Xie, J., Gao, S., Griffin, C. T. Tags: Metabolic Disorders RESEARCH ARTICLE Source Type: research
First person - Cathryn Ugalde [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. Cathryn Ugalde is first author on ‘Misfolded α-synuclein causes hyperactive respiration without functional deficit in live neuroblastoma cells’, published in DMM. Cathryn is a postdoctoral research scientist in the lab of Prof. Andrew Hill at La Trobe University, Bundoora, Australia, investigating neurodegeneration associated with protein misfolding. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - January 16, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Ablation of Bscl2/seipin in hepatocytes does not cause metabolic dysfunction in congenital generalised lipodystrophy [RESEARCH ARTICLE]
ABSTRACT
Mutations affecting the BSCL2 gene cause the most severe form of congenital generalised lipodystrophy (CGL). Affected individuals develop severe metabolic complications including diabetes and hepatic steatosis. Bscl2-deficient mice almost entirely reproduce the CGL phenotype. Adipose tissue-specific loss of Bscl2 is also sufficient to cause early-onset generalised lipodystrophy in mice. However, these mice do not show severe metabolic dysfunction, even when challenged with a high-fat diet. Germline Bscl2 loss in mice and BSCL2 disruption in humans causes severe hepatic steatosis, and the encoded protein, seipin, h...
Source: DMM Disease Models and Mechanisms - January 16, 2020 Category: Biomedical Science Authors: Mcilroy, G. D., Mitchell, S. E., Han, W., Delibegovic, M., Rochford, J. J. Tags: Metabolic Disorders RESEARCH ARTICLE Source Type: research
Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility [REVIEW]
ABSTRACT
Induced pluripotent stem cell (iPSC) technologies have provided in vitro models of inaccessible human cell types, yielding new insights into disease mechanisms especially for neurological disorders. However, without due consideration, the thousands of new human iPSC lines generated in the past decade will inevitably affect the reproducibility of iPSC-based experiments. Differences between donor individuals, genetic stability and experimental variability contribute to iPSC model variation by impacting differentiation potency, cellular heterogeneity, morphology, and transcript and protein abundance. Such effects wil...
Source: DMM Disease Models and Mechanisms - January 16, 2020 Category: Biomedical Science Authors: Volpato, V., Webber, C. Tags: Stem Cells REVIEW Source Type: research
Misfolded {alpha}-synuclein causes hyperactive respiration without functional deficit in live neuroblastoma cells [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 - January 16, 2020 Category: Biomedical Science Authors: Ugalde, C. L., Annesley, S. J., Gordon, S. E., Mroczek, K., Perugini, M. A., Lawson, V. A., Fisher, P. R., Finkelstein, D. I., Hill, A. F. Tags: Neurodegenerative disorders RESEARCH ARTICLE Source Type: research
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs [RESEARCH ARTICLE]
ABSTRACT
ATP7A encodes a copper-transporting P-type ATPase and is one of 23 genes in which mutations produce distal hereditary motor neuropathy (dHMN), a group of diseases characterized by length-dependent axonal degeneration of motor neurons. We have generated induced pluripotent stem cell (iPSC)-derived motor neurons from a patient with the p.T994I ATP7A gene mutation as an in vitro model for X-linked dHMN (dHMNX). Patient motor neurons show a marked reduction of ATP7A protein levels in the soma when compared to control motor neurons and failed to upregulate expression of ATP7A under copper-loading conditions. These resu...
Source: DMM Disease Models and Mechanisms - January 12, 2020 Category: Biomedical Science Authors: Perez-Siles, G., Cutrupi, A., Ellis, M., Kuriakose, J., La Fontaine, S., Mao, D., Uesugi, M., Takata, R. I., Speck-Martins, C. E., Nicholson, G., Kennerson, M. L. Tags: Stem Cells, Neuromuscular RESEARCH ARTICLE Source Type: research
Absence of p.R50X Pygm read-through in McArdle disease cellular models [RESEARCH ARTICLE]
ABSTRACT
McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through agents (including amlexanox, Ataluren, RTC13 and G418) in McArdle disease. The first model consisted of HeLa cells transfected with two different GFP-PYGM constructs presenting the Pygm p.R50X mutation (GFP-PYGM p.R50X and PYGM Ex1-GFP p.R50X). The second cellular model was based on the creation of HEK293T cell lines stably expressing the PYGM Ex1-GFP p.R50X construct....
Source: DMM Disease Models and Mechanisms - January 12, 2020 Category: Biomedical Science Authors: Tarraso, G., Real-Martinez, A., Pares, M., Romero-Cortadellas, L., Puigros, L., Moya, L., de Luna, N., Brull, A., Martin, M. A., Arenas, J., Lucia, A., Andreu, A. L., Barquinero, J., Vissing, J., Krag, T. O., Pinos, T. Tags: RESEARCH ARTICLE Source Type: research
First person - Stephanie Fernandes [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. Stephanie Fernandes is first author on ‘Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy’, published in DMM. Stephanie conducted the research described in this article while a master's degree student in Mariz Vainzof's lab at the Human Genome and Stem-Cell Research Center, University of São Paulo, São Paulo, Brazil. She is now a PhD student in the...
Source: DMM Disease Models and Mechanisms - January 9, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
