Subject collection: Drosophila as a Disease Model
- Mistargeting of secretory cargo in retromer-deficient cells
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.
- Impaired muscle morphology in a Drosophila model of myosin storage myopathy was suppressed by overexpression of an E3 ubiquitin ligase
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.
- Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart
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.
- Rabphilin involvement in filtration and molecular uptake in Drosophila nephrocytes suggests a similar role in human podocytes
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.
- Loss of the Drosophila branched-chain α-ketoacid dehydrogenase complex results in neuronal dysfunction
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.
- Systemic and heart autonomous effects of sphingosine Δ4 desaturase deficiency in lipotoxic cardiac pathophysiology
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.
- Daughterless, the Drosophila orthologue of TCF4, is required for associative learning and maintenance of the synaptic proteome
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.
- A Drosophila model of oral peptide therapeutics for adult intestinal stem cell tumors
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.
- Temporal patterning in neural progenitors: from Drosophila development to childhood cancers
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.
- Silencing of CCR4-NOT complex subunits affects heart structure and function
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.