ArticleDisease models & mechanisms
A Drosophila melanogaster model of classic galactosemia.
Article in Disease models & mechanisms. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.Journal of inherited metabolic disease · 2020Pooled it
- Single-cell transcriptomics reveals mechanisms ofFrontiers in cell and developmental biology · 2025Article
- Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia.Clinical and translational medicine · 2024Article
- Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia.Journal of inherited metabolic disease · 2024Article
- GALDAR: A genetically encoded galactose sensor for visualizing sugar metabolism in vivo.PLoS biology · 2024Article
- Galactosemia: Towards Pharmacological Chaperones.Journal of personalized medicine · 2021Review
- Current and Future Treatments for Classic Galactosemia.Journal of personalized medicine · 2021Review
- Article
- Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.Journal of inherited metabolic disease · 2019Article
- Impaired fertility and motor function in a zebrafish model for classic galactosemia.Journal of inherited metabolic disease · 2018Article
- Sweet and sour: an update on classic galactosemia.Journal of inherited metabolic disease · 2017Review
- Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.Journal of inherited metabolic disease · 2017Article
- Drosophila melanogaster Models of Galactosemia.Current topics in developmental biology · 2017Review
- Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.Disease models & mechanisms · 2016Article
- Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.Human molecular genetics · 2016Article
- Overelaborated synaptic architecture and reduced synaptomatrix glycosylation in a Drosophila classic galactosemia disease model.Disease models & mechanisms · 2014Article
- Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model.European journal of human genetics : EJHG · 2014Article
- Manganese-based superoxide dismutase mimics modify both acute and long-term outcome severity in a Drosophila melanogaster model of classic galactosemia.Antioxidants & redox signaling · 2014Article
- Cryptic residual GALT activity is a potential modifier of scholastic outcome in school age children with classic galactosemia.Journal of inherited metabolic disease · 2013Article
- Oxidative stress contributes to outcome severity in a Drosophila melanogaster model of classic galactosemia.Disease models & mechanisms · 2013Article
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7 authors at 1 institution in 1 country.
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Abstract
Classic galactosemia is a potentially lethal disorder that results from profound impairment of galactose-1-phosphate uridylyltransferase (GALT). Despite decades of research, the underlying pathophysiology of classic galactosemia remains unclear, in part owing to the lack of an appropriate animal model. Here, we report the establishment of a Drosophila melanogaster model of classic galactosemia; this is the first whole-animal genetic model to mimic aspects of the patient phenotype. Analogous to humans, GALT-deficient D. melanogaster survive under conditions of galactose restriction, but accumulate elevated levels of galactose-1-phosphate and succumb during larval development following galactose exposure. As in patients, the potentially lethal damage is reversible if dietary galactose restriction is initiated early in life. GALT-deficient Drosophila also exhibit locomotor complications despite dietary galactose restriction, and both the acute and long-term complications can be rescued by transgenic expression of human GALT. Using this new Drosophila model, we have begun to dissect the timing, extent and mechanism(s) of galactose sensitivity in the absence of GALT activity.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.