First person - Monika Baxa [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. Monika Baxa is first author on ‘Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease’, published in DMM. Monika is a PhD student in the lab of Zdenka Ellederova at the Czech Academy of Sciences, Czech Republic, investigating pig models of neurodegenerative diseases. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 11, 2019 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
To dystrophin and beyond: an interview with Louis Kunkel [A MODEL FOR LIFE]
Louis Kunkel has devoted his career to understanding the causes, mechanisms and treatment of muscular dystrophies. Dr Kunkel is the past Director of the Genomics Program at Boston Children's Hospital and Professor of Genetics and Pediatrics at Harvard Medical School. In this interview, he talks about his discovery of dystrophin, including patients in preclinical research, and bearded irises. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 11, 2019 Category: Biomedical Science Authors: Kunkel, L. M. Tags: Neuromuscular A MODEL FOR LIFE Source Type: research
Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration [RESEARCH ARTICLE]
In this study, we analyzed the brain tissues of TgHD minipigs at the age of 48 and 60-70 months, and compared them to wild-type animals. We were able to demonstrate not only an accumulation of different forms of mutant huntingtin (mHTT) in TgHD brain, but also pathological changes associated with cellular damage caused by mHTT. At 48 months, we detected pathological changes that included the demyelination of brain white matter, loss of function of striatal neurons in the putamen and activation of microglia. At 60-70 months, we found a clear marker of neurodegeneration: significant cell loss detected in the c...
Source: DMM Disease Models and Mechanisms - December 11, 2019 Category: Biomedical Science Authors: Ardan, T., Baxa, M., Levinska, B., Sedlackova, M., Nguyen, T. D., Klima, J., Juhas, S., Juhasova, J., Smatlikova, P., Vochozkova, P., Motlik, J., Ellederova, Z. Tags: Neurodegenerative disorders, Neuromuscular RESEARCH ARTICLE Source Type: research
Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington'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 - December 11, 2019 Category: Biomedical Science Authors: Baxa, M., Levinska, B., Skrivankova, M., Pokorny, M., Juhasova, J., Klima, J., Klempir, J., Motlik, J., Juhas, S., Ellederova, Z. Tags: Neurodegenerative disorders, Neuromuscular RESEARCH ARTICLE Source Type: research
First person - Trace Stay [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. Trace Stay is first author on ‘In vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophy’, published in DMM. Trace conducted the research described in this article while a PhD student in Roy V. Sillitoe's lab at the Baylor College of Medicine, Houston, TX, USA. He is now a postdoctoral scholar in the lab of Jennifer L. Raymond at Stanford University, Sta...
Source: DMM Disease Models and Mechanisms - December 8, 2019 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
In vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophy [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 - December 8, 2019 Category: Biomedical Science Authors: Stay, T. L., Miterko, L. N., Arancillo, M., Lin, T., Sillitoe, R. V. Tags: Neuromuscular RESEARCH ARTICLE Source Type: research
First person - Yong Chen [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. Yong Chen is first author on ‘Formula feeding and immature gut microcirculation promote intestinal hypoxia, leading to necrotizing enterocolitis’, published in DMM. Yong conducted the research described in this article while a research fellow in Agostino Pierro's lab at The Hospital for Sick Children, Toronto, Canada. He is now a staff physician in the Department of Pediatric Surgery at KK W...
Source: DMM Disease Models and Mechanisms - December 8, 2019 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
Formula feeding and immature gut microcirculation promote intestinal hypoxia, leading to necrotizing enterocolitis [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 - December 8, 2019 Category: Biomedical Science Authors: Chen, Y., Koike, Y., Chi, L., Ahmed, A., Miyake, H., Li, B., Lee, C., Delgado-Olguin, P., Pierro, A. Tags: RESEARCH ARTICLE Source Type: research
First person - Celia Cordero-Sanchez [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. Celia Cordero-Sanchez is joint first author on ‘A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy’, published in DMM. Celia is a PhD student in the lab of Armando Genazzani at the University of Piemonte Orientale, investigating a mouse model of tubular aggregate myopathy. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 2, 2019 Category: Biomedical Science Tags: FIRST PERSON Source Type: research
A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy [RESEARCH ARTICLE]
This article has an associated First Person interview with Celia Cordero-Sanchez, co-first author of the paper. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 2, 2019 Category: Biomedical Science Authors: Cordero-Sanchez, C., Riva, B., Reano, S., Clemente, N., Zaggia, I., Ruffinatti, F. A., Potenzieri, A., Pirali, T., Raffa, S., Sangaletti, S., Colombo, M. P., Bertoni, A., Garibaldi, M., Filigheddu, N., Genazzani, A. A. Tags: Neuromuscular RESEARCH ARTICLE Source Type: research
The latest from the preLights community - November 2019 [PREPRINT HIGHLIGHTS]
(Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - December 1, 2019 Category: Biomedical Science Tags: PREPRINT HIGHLIGHTS Source Type: research
The role of noncoding mutations in blood cancers [REVIEW]
ABSTRACT
The search for oncogenic mutations in haematological malignancies has largely focused on coding sequence variants. These variants have been critical in understanding these complex cancers in greater detail, ultimately leading to better disease monitoring, subtyping and prognostication. In contrast, the search for oncogenic variants in the noncoding genome has proven to be challenging given the vastness of the search space, the intrinsic difficulty in assessing the impact of variants that do not code for functional proteins, and our still primitive understanding of the function harboured by large parts of the nonco...
Source: DMM Disease Models and Mechanisms - November 25, 2019 Category: Biomedical Science Authors: Rahman, S., Mansour, M. R. Tags: Cancer REVIEW Source Type: research
Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid [RESEARCH ARTICLE]
ABSTRACT
Neural tube defects (NTDs), including spina bifida and anencephaly, are among the most common birth defects worldwide, but their underlying genetic and cellular causes are not well understood. Some NTDs are preventable by supplemental folic acid. However, despite widespread use of folic acid supplements and implementation of food fortification in many countries, the protective mechanism is unclear. Pax3 mutant (splotch; Sp2H) mice provide a model in which NTDs are preventable by folic acid and exacerbated by maternal folate deficiency. Here, we found that cell proliferation was diminished in the dorsal neuroepithe...
Source: DMM Disease Models and Mechanisms - November 21, 2019 Category: Biomedical Science Authors: Sudiwala, S., Palmer, A., Massa, V., Burns, A. J., Dunlevy, L. P. E., de Castro, S. C. P., Savery, D., Leung, K.-Y., Copp, A. J., Greene, N. D. E. Tags: RESEARCH ARTICLE Source Type: research
Quantitative whole-brain 3D imaging of tyrosine hydroxylase-labeled neuron architecture in the mouse MPTP model of Parkinson's disease [RESEARCH ARTICLE]
In conclusion, mouse whole-brain 3D imaging is ideal for unbiased automated counting and densitometric analysis of TH-positive cells. The LSFM–deep learning pipeline tracked brain-wide changes in catecholaminergic pathways in the MPTP mouse model of PD, and may be applied for preclinical characterization of compounds targeting dopaminergic neurotransmission. (Source: DMM Disease Models and Mechanisms)
Source: DMM Disease Models and Mechanisms - November 21, 2019 Category: Biomedical Science Authors: Roostalu, U., Salinas, C. B. G., Thorbek, D. D., Skytte, J. L., Fabricius, K., Barkholt, P., John, L. M., Jurtz, V. I., Knudsen, L. B., Jelsing, J., Vrang, N., Hansen, H. H., Hecksher-Sorensen, J. Tags: Neurodegenerative disorders RESEARCH ARTICLE Source Type: research
Adenoviral TMBIM6 vector attenuates ER-stress-induced apoptosis in a neonatal hypoxic-ischemic rat model [RESEARCH ARTICLE]
ABSTRACT
Endoplasmic reticulum (ER) stress is a major pathology encountered after hypoxic-ischemic (HI) injury. Accumulation of unfolded proteins triggers the unfolded protein response (UPR), resulting in the activation of pro-apoptotic cascades that lead to cell death. Here, we identified Bax inhibitor 1 (BI-1), an evolutionarily conserved protein encoded by the transmembrane BAX inhibitor motif-containing 6 (TMBIM6) gene, as a novel modulator of ER-stress-induced apoptosis after HI brain injury in a neonatal rat pup. The main objective of our study was to overexpress BI-1, via viral-mediated gene delivery of human adenov...
Source: DMM Disease Models and Mechanisms - November 21, 2019 Category: Biomedical Science Authors: Doycheva, D., Xu, N., Kaur, H., Malaguit, J., McBride, D. W., Tang, J., Zhang, J. H. Tags: Rat as a Disease Model RESEARCH ARTICLE Source Type: research
