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Showing 1–11 of 11 results
Advanced filters: Author: Cathleen Lutz Clear advanced filters

  • Mutations in profilin 1 (PFN1), which modulates actin dynamics, are associated with ALS. Here the authors show that expression of ALS-PFN1 is sufficient to induce deficits in human microglia-like cells, including impaired phagocytosis and lipid metabolism, and that gain-of-function interactions between ALS-PFN1 and PI3P may underlie these deficits.

    • Salome Funes
    • Jonathan Jung
    • Daryl A. Bosco
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-25

  • At the heart of C9ORF72-related amyotrophic lateral sclerosis and frontotemporal dementia (ALS /FTD) research lies the mechanistic question of whether disease is caused by toxic gain of function related to the repeat expansion, loss of endogenous C9ORF72 expression, or both. New findings provide insights to this question.

    • Cathleen Lutz
    News & Views
    Nature Neuroscience
    Volume: 23, P: 596-597

  • Comparative studies that integrate genetically diverse mouse models and in vitro cell-based assays will accelerate drug discovery for precision medicine.

    • Martin Pera
    • Andy Greene
    • Nadia A. Rosenthal
    Comments & Opinion
    Nature Biotechnology
    Volume: 42, P: 1175-1177

  • This Perspective discusses how the Somatic Cell Genome Editing Consortium aims to accelerate the implementation of safe and effective genome-editing therapies in the clinic.

    • Krishanu Saha
    • Erik J. Sontheimer
    • Jiangbing Zhou
    ReviewsOpen Access
    Nature
    Volume: 592, P: 195-204

  • Presa, Bailey et al. assess the feasibility and efficacy of intrathecal administration of AAV9-SUMF1 gene therapy in the Sumf1-KO mouse model of Multiple Sulfatase Deficiency. They show that it provides sustained, significant improvements in survival, in the absence of neurological defects, even when given to juvenile mice.

    • Maximiliano Presa
    • Rachel M. Bailey
    • Cathleen Lutz
    ResearchOpen Access
    Communications Medicine
    Volume: 5, P: 1-13

  • Presa et al. use a mouse model of multiple sulfatase deficiency (MSD) to assess efficacy of bone marrow transplantation to increase sulfatase activity. Sulfatase activity is partially restored in some peripheral tissues such as spleen, liver and heart, but no significant benefit is observed in the brain.

    • Maximiliano Presa
    • Vi Pham
    • Cathleen Lutz
    ResearchOpen Access
    Communications Medicine
    Volume: 4, P: 1-12

  • Reproducibility is key to all fields of research, and in the case of animal research, this can be hampered by inconsistent reporting of animal genetics. Here the authors propose a reporting framework and guidelines designed to discuss the validation and standardise the reporting of genetic backgrounds and genetic alterations in animal models.

    • Lydia Teboul
    • James Amos-Landgraf
    • Guillaume Pavlovic
    ReviewsOpen Access
    Nature Communications
    Volume: 15, P: 1-8

  • Brian Geuther et al. use machine vison techniques to develop a mouse tracker based on an encoder-decoder segmentation neural network that is highly accurate even with minimal training data. This tracker can be adapted to various behavioral paradigms and animal models widely used for biomedical research.

    • Brian Q. Geuther
    • Sean P. Deats
    • Vivek Kumar
    ResearchOpen Access
    Communications Biology
    Volume: 2, P: 1-11

    • Cathleen Lutz
    Comments & Opinion
    Lab Animal
    Volume: 46, P: 162-163