Machine learning discriminates a movement disorder in a zebrafish model of Parkinson's disease [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 - October 16, 2020 Category: Biomedical Science Authors: Hughes, G. L., Lones, M. A., Bedder, M., Currie, P. D., Smith, S. L., Pownall, M. E. Tags: Neurodegenerative disorders, Zebrafish as a Disease Model RESEARCH ARTICLE Source Type: research
First person - Eva Saskoi [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. Éva Saskői is first author on ‘The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model’, published in DMM. Éva is a PhD student in the lab of Krisztina Takács-Vellai at Eötvös Lorand University, Budapest, Hungary, investigating the developmental functions of tumor suppressor homologs in Caenorhab...
Source: DMM Disease Models and Mechanisms - October 15, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model [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 - October 15, 2020 Category: Biomedical Science Authors: Saskoi, E., Hujber, Z., Nyiro, G., Liko, I., Matyasi, B., Petovari, G., Meszaros, K., Kovacs, A. L., Patthy, L., Supekar, S., Fan, H., Svab, G., Tretter, L., Sarkar, A., Nazir, A., Sebestyen, A., Patocs, A., Mehta, A., Takacs-Vellai, K. Tags: Cancer metabolism, Rare diseases, C. elegans RESEARCH ARTICLE Source Type: research
CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons [RESEARCH ARTICLE]
ABSTRACT
C-terminus of HSC70-interacting protein (CHIP) encoded by the gene STUB1 is a co-chaperone and E3 ligase that acts as a key regulator of cellular protein homeostasis. Mutations in STUB1 cause autosomal recessive spinocerebellar ataxia type 16 (SCAR16) with widespread neurodegeneration manifesting as spastic-ataxic gait disorder, dementia and epilepsy. CHIP–/– mice display severe cerebellar atrophy, show high perinatal lethality and impaired heat stress tolerance. To decipher the pathomechanism underlying SCAR16, we investigated the heat shock response (HSR) in primary fibroblasts of three SCAR16 patien...
Source: DMM Disease Models and Mechanisms - October 12, 2020 Category: Biomedical Science Authors: Schuster, S., Heuten, E., Velic, A., Admard, J., Synofzik, M., Ossowski, S., Macek, B., Hauser, S., Schöls, L. Tags: Stem Cells, Neurodegenerative disorders RESEARCH ARTICLE Source Type: research
First person - Shohei Yoshimoto [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. Shohei Yoshimoto is first author on ‘Inhibition of Alk signaling promotes the induction of human salivary-gland-derived organoids’, published in DMM. Shohei is a research scientist in the lab of Professor Shuichi Hashimoto at Fukuoka Dental College, Fukuoka, Japan, investigating salivary gland disorders. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - September 27, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Pre-existing antibody-mediated adverse effects prevent the clinical development of a bacterial anti-inflammatory protein [RESEARCH ARTICLE]
ABSTRACT
Bacterial pathogens have evolved to secrete strong anti-inflammatory proteins that target the immune system. It was long speculated whether these virulence factors could serve as therapeutics in diseases in which abnormal immune activation plays a role. We adopted the secreted chemotaxis inhibitory protein of Staphylococcus aureus (CHIPS) as a model virulence factor-based therapeutic agent for diseases in which C5AR1 stimulation plays an important role. We show that the administration of CHIPS in human C5AR1 knock-in mice successfully dampens C5a-mediated neutrophil migration during immune complex-initiated inflam...
Source: DMM Disease Models and Mechanisms - September 27, 2020 Category: Biomedical Science Authors: Tromp, A. T., Zhao, Y., Jongerius, I., Heezius, E. C. J. M., Abrial, P., Ruyken, M., van Strijp, J. A. G., de Haas, C. J. C., Spaan, A. N., van Kessel, K. P. M., Henry, T., Haas, P.-J. A. Tags: Model Systems in Drug Discovery RESEARCH ARTICLE Source Type: research
Inhibition of Alk signaling promotes the induction of human salivary-gland-derived organoids [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 - September 27, 2020 Category: Biomedical Science Authors: Yoshimoto, S., Yoshizumi, J., Anzai, H., Morishita, K., Okamura, K., Hiraki, A., Hashimoto, S. Tags: Organoids RESEARCH ARTICLE Source Type: research
Disturbed nitric oxide signalling gives rise to congenital bicuspid aortic valve and aortopathy [RESEARCH ARTICLE]
This study examined BAV-associated aortopathy in Nos3–/– mice, a model with congenital BAV formation. A combination of histological examination and in vivo ultrasound imaging was used to investigate aortic dilation and dissections in Nos3–/– mice. Moreover, cell lineage analysis and single-cell RNA sequencing were used to observe the molecular anomalies within vascular smooth muscle cells (VSMCs) of Nos3–/– mice. Spontaneous aortic dissections were found in ascending aortas located at the sinotubular junction in ~13% of Nos3–/– mice. Moreover, Nos3–/– mice were pr...
Source: DMM Disease Models and Mechanisms - September 27, 2020 Category: Biomedical Science Authors: Peterson, J. C., Wisse, L. J., Wirokromo, V., van Herwaarden, T., Smits, A. M., Gittenberger-de Groot, A. C., Goumans, M.-J. T. H., VanMunsteren, J. C., Jongbloed, M. R. M., DeRuiter, M. C. Tags: Developmental Disorders RESEARCH ARTICLE Source Type: research
Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy [RESEARCH ARTICLE]
In conclusion, the outcomes of this study contribute to the further understanding of BMD pathology and help elucidate the efficiency of dystrophin recovery treatments in Duchenne muscular dystrophy, a more severe form of X-linked muscular dystrophy. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - September 27, 2020 Category: Biomedical Science Authors: Teramoto, N., Sugihara, H., Yamanouchi, K., Nakamura, K., Kimura, K., Okano, T., Shiga, T., Shirakawa, T., Matsuo, M., Nagata, T., Daimon, M., Matsuwaki, T., Nishihara, M. Tags: Rat as a Disease Model, Neuromuscular RESEARCH ARTICLE Source Type: research
First person - Patricia Shaw [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. Patricia Shaw is first author on ‘Longitudinal neuroanatomical and behavioral analyses show phenotypic drift and variability in the Ts65Dn mouse model of Down syndrome’, published in DMM. Patricia is a PhD student in the lab of Tarik Haydar at Boston University School of Medicine, USA, researching the underlying genetic and cellular mechanisms that contribute to brain development, and investigatin...
Source: DMM Disease Models and Mechanisms - September 24, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Longitudinal neuroanatomical and behavioral analyses show phenotypic drift and variability in the Ts65Dn mouse model of Down 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 - September 24, 2020 Category: Biomedical Science Authors: Shaw, P. R., Klein, J. A., Aziz, N. M., Haydar, T. F. Tags: Developmental Disorders RESEARCH ARTICLE Source Type: research
First person - Jelmer Hoeksma [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. Jelmer Hoeksma is first author on ‘Cercosporamide inhibits bone morphogenetic protein receptor type I kinase activity in zebrafish’, published in DMM. Jelmer is a PhD student/technician in the lab of Jeroen den Hertog at Hubrecht Institute, Utrecht, The Netherlands, identifying biologically active fungal compounds and uncovering their mode of action in vivo. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - September 23, 2020 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Cercosporamide inhibits bone morphogenetic protein receptor type I kinase activity in zebrafish [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 - September 23, 2020 Category: Biomedical Science Authors: Hoeksma, J., van der Zon, G. C. M., ten Dijke, P., den Hertog, J. Tags: Developmental Disorders, Zebrafish as a Disease Model RESEARCH ARTICLE Source Type: research
Travel grants and how to use them (when there's no travel) [EDITORIAL]
(Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - September 20, 2020 Category: Biomedical Science Authors: Nicholson, A., Hmeljak, J. Tags: EDITORIAL Source Type: research
Fibrodysplasia ossificans progressiva: current concepts from bench to bedside [CLINICAL PUZZLE]
ABSTRACT
Heterotopic ossification (HO) is a disorder characterised by the formation of ectopic bone in soft tissue. Acquired HO typically occurs in response to trauma and is relatively common, yet its aetiology remains poorly understood. Genetic forms, by contrast, are very rare, but provide insights into the mechanisms of HO pathobiology. Fibrodysplasia ossificans progressiva (FOP) is the most debilitating form of HO. All patients reported to date carry heterozygous gain-of-function mutations in the gene encoding activin A receptor type I (ACVR1). These mutations cause dysregulated bone morphogenetic protein (BMP) signall...
Source: DMM Disease Models and Mechanisms - September 20, 2020 Category: Biomedical Science Authors: Kaliya-Perumal, A.-K., Carney, T. J., Ingham, P. W. Tags: Rare diseases CLINICAL PUZZLE Source Type: research
