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Subject collection: Drosophila as a Disease Model

  • RESEARCH ARTICLE
    Mistargeting of secretory cargo in retromer-deficient cells
    Sarah D. Neuman, Erica L. Terry, Jane E. Selegue, Amy T. Cavanagh, Arash Bashirullah
    Disease Models & Mechanisms 2021 14: dmm046417 doi: 10.1242/dmm.046417 Published 22 January 2021

    Summary: Using Drosophila larval salivary glands as a model system, we show a new role for retromer in trafficking of secretory membrane and cargo proteins during regulated exocytosis, which could be relevant in neurodegenerative diseases.

  • RESEARCH ARTICLE
    Impaired muscle morphology in a Drosophila model of myosin storage myopathy was suppressed by overexpression of an E3 ubiquitin ligase
    Martin Dahl-Halvarsson, Montse Olive, Malgorzata Pokrzywa, Michaela Norum, Katarina Ejeskär, Homa Tajsharghi
    Disease Models & Mechanisms 2020 13: dmm047886 doi: 10.1242/dmm.047886 Published 29 December 2020

    Summary:

    Exploration of the phenotypes associated with the MYH7 R1845W mutation in skeletal muscles, and an alleviating mechanism of the pathological phenotype, suggesting E3-ligase modifier gene activity potentially affects the impact of the mutation.

  • RESEARCH ARTICLE
    Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart
    Emilie Auxerre-Plantié, Tanja Nielsen, Marcel Grunert, Olga Olejniczak, Andreas Perrot, Cemil Özcelik, Dennis Harries, Faramarz Matinmehr, Cristobal Dos Remedios, Christian Mühlfeld, Theresia Kraft, Rolf Bodmer, Georg Vogler, Silke R. Sperling
    Disease Models & Mechanisms 2020 13: dmm045377 doi: 10.1242/dmm.045377 Published 18 December 2020

    Editor's choice: MYOM2 plays a critical role in establishing or maintaining robust heart function, and is a candidate gene for heart diseases, such as hypertrophic cardiomyopathy and Tetralogy of Fallot.

  • RESEARCH ARTICLE
    Rabphilin involvement in filtration and molecular uptake in Drosophila nephrocytes suggests a similar role in human podocytes
    Estela Selma-Soriano, Beatriz Llamusi, Juan Manuel Fernández-Costa, Lauren Louise Ozimski, Rubén Artero, Josep Redón
    Disease Models & Mechanisms 2020 13: dmm041509 doi: 10.1242/dmm.041509 Published 21 September 2020

    Summary: Rabphilin is necessary for the maintenance of Drosophila nephrocytes. Knockdown of Rabphilin causes deregulation of the filtration and the reabsorption processes, which are restored by the administration of retinoic acid.

  • RESEARCH ARTICLE
    Loss of the Drosophila branched-chain α-ketoacid dehydrogenase complex results in neuronal dysfunction
    Hui-Ying Tsai, Shih-Cheng Wu, Jian-Chiuan Li, Yu-Min Chen, Chih-Chiang Chan, Chun-Hong Chen
    Disease Models & Mechanisms 2020 13: dmm044750 doi: 10.1242/dmm.044750 Published 27 August 2020

    Summary: Loss of BCKDH activity in Drosophila recapitulates the neurological symptoms of patients with maple syrup urine disease. Metformin administration was found to alleviate developmental defects and aberrant behavior in the BCKDH mutant.

  • RESEARCH ARTICLE
    Systemic and heart autonomous effects of sphingosine Δ4 desaturase deficiency in lipotoxic cardiac pathophysiology
    Stanley M. Walls, Dale A. Chatfield, Karen Ocorr, Greg L. Harris, Rolf Bodmer
    Disease Models & Mechanisms 2020 13: dmm043083 doi: 10.1242/dmm.043083 Published 14 August 2020

    Summary: Systemic versus heart autonomous functions of sphingosine Δ4 desaturase differentially regulate cardiac structure and function in a tissue-specific manner in Drosophila, where organ interplay mimics that observed in mammalian systems.

  • RESEARCH ARTICLE
    Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome
    Laura Tamberg, Mariliis Jaago, Kristi Säälik, Alex Sirp, Jürgen Tuvikene, Anastassia Shubina, Carl Sander Kiir, Kaja Nurm, Mari Sepp, Tõnis Timmusk, Mari Palgi
    Disease Models & Mechanisms 2020 13: dmm042747 doi: 10.1242/dmm.042747 Published 30 July 2020

    Summary: Human TCF4, a bHLH transcription factor, is associated with intellectual disability and schizophrenia. Here, we propose a Drosophila model for human disease studies using the fruit fly TCF4 orthologue, Daughterless.

  • RESEARCH ARTICLE
    A Drosophila model of oral peptide therapeutics for adult intestinal stem cell tumors
    Anjali Bajpai, Taushif Ahmad Quazi, Hong-Wen Tang, Nishat Manzar, Virender Singh, Ashwani Thakur, Bushra Ateeq, Norbert Perrimon, Pradip Sinha
    Disease Models & Mechanisms 2020 13: dmm044420 doi: 10.1242/dmm.044420 Published 23 July 2020

    Summary: We demonstrate that, when fed to flies, TONDU peptide suppresses Yki-driven intestinal stem cell (ISC) tumors, and identify integrins as essential components of ISC tumorigenesis.

  • REVIEW
    Temporal patterning in neural progenitors: from Drosophila development to childhood cancers
    Cédric Maurange
    Disease Models & Mechanisms 2020 13: dmm044883 doi: 10.1242/dmm.044883 Published 22 July 2020

    Summary: Temporal patterning is the mechanism by which neural progenitors change their competence and proliferative properties during development. Recent data suggest that co-opted temporal patterning could govern tumor growth in neural cancers with developmental origins.

  • RESEARCH ARTICLE
    Silencing of CCR4-NOT complex subunits affects heart structure and function
    Lisa Elmén, Claudia B. Volpato, Anaïs Kervadec, Santiago Pineda, Sreehari Kalvakuri, Nakissa N. Alayari, Luisa Foco, Peter P. Pramstaller, Karen Ocorr, Alessandra Rossini, Anthony Cammarato, Alexandre R. Colas, Andrew A. Hicks, Rolf Bodmer
    Disease Models & Mechanisms 2020 13: dmm044727 doi: 10.1242/dmm.044727 Published 20 July 2020

    Summary: Genome-wide association studies combined with in vitro human cardiac cell assays and a model organism suitable for heart studies in vivo connect CNOT1, CNOT7 and overall the CCR4-NOT complex to human heart disease and morbidity.

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