Subject collection: Drosophila as a Disease Model
- 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.
- A Drosophila model to study retinitis pigmentosa pathology associated with mutations in the core splicing factor Prp8
Summary: A Drosophila melanogaster disease model of retinitis pigmentosa type 13 to study the mechanisms underlying the loss of tissue homeostasis and degeneration caused by mutations in the core component of the spliceosome Prp8.
- Extracellular matrix induced by steroids and aging through a G-protein-coupled receptor in a Drosophila model of renal fibrosis
Summary: Drosophila kidney function in impaired by the steroid hormone ecdysone and by human aldosterone, and when ecdysone increases with age. Steroids induce fibrosis in the fly kidney by signaling through the Dopamine-Ecdysone receptor.
- Frameshift mutations of YPEL3 alter the sensory circuit function in Drosophila
Summary: A Drosophila model of a human YPEL3 variant was generated and used to discover that the human variant alters neuronal communication through a loss-of-function mechanism.
- Temperature-sensitive spinal muscular atrophy-causing point mutations lead to SMN instability, locomotor defects and premature lethality in Drosophila
Summary: Using animal models of spinal muscular atrophy, we describe a novel disease mechanism caused by temperature-sensitive protein unfolding/instability of the Tudor domain of SMN.