ArticleGenetics2007
Genetic modifiers of Drosophila palmitoyl-protein thioesterase 1-induced degeneration.
Article in Genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 42 citations in OpenAlex.
- Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.Brain : a journal of neurology · 2025Review
- Lost in traffic: consequences of altered palmitoylation in neurodegeneration.Frontiers in physiology · 2023Review
- Identification of substrates of palmitoyl protein thioesterase 1 highlights roles of depalmitoylation in disulfide bond formation and synaptic function.PLoS biology · 2022Article
- Depalmitoylation by Palmitoyl-Protein Thioesterase 1 in Neuronal Health and Degeneration.Frontiers in synaptic neuroscience · 2019Review
- Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia.Metabolic brain disease · 2017Article
- Genetic studies in Drosophila and humans support a model for the concerted function of CISD2, PPT1 and CLN3 in disease.Biology open · 2014Article
- A murine model of variant late infantile ceroid lipofuscinosis recapitulates behavioral and pathological phenotypes of human disease.PloS one · 2013Article
- Invertebrate models of lysosomal storage disease: what have we learned so far?Invertebrate neuroscience : IN · 2011Review
- Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.Cellular and molecular life sciences : CMLS · 2011Review
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- Identifying cellular pathways modulated by Drosophila palmitoyl-protein thioesterase 1 function.Neurobiology of disease · 2010Article
- Autophagy-dependent rhodopsin degradation prevents retinal degeneration in Drosophila.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2010Article
- Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways.Human molecular genetics · 2009Article
- Drosophila melanogaster as a model organism of brain diseases.International journal of molecular sciences · 2009Review
- Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice.The Journal of clinical investigation · 2008Article
- Huntingtin-interacting protein 14, a palmitoyl transferase required for exocytosis and targeting of CSP to synaptic vesicles.The Journal of cell biology · 2007Article
- Gene expression profiling in a mouse model of infantile neuronal ceroid lipofuscinosis reveals upregulation of immediate early genes and mediators of the inflammatory response.BMC neuroscience · 2007Article
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Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Infantile neuronal ceroid lipofuscinosis (INCL) is a pediatric neurodegenerative disease caused by mutations in the human CLN1 gene. CLN1 encodes palmitoyl-protein thioesterase 1 (PPT1), suggesting an important role for the regulation of palmitoylation in normal neuronal function. To further elucidate Ppt1 function, we performed a gain-of-function modifier screen in Drosophila using a collection of enhancer-promoter transgenic lines to suppress or enhance the degeneration produced by overexpression of Ppt1 in the adult visual system. Modifier genes identified in our screen connect Ppt1 function to synaptic vesicle cycling, endo-lysosomal trafficking, synaptic development, and activity-dependent remodeling of the synapse. Furthermore, several homologs of the modifying genes are known to be regulated by palmitoylation in other systems and may be in vivo substrates for Ppt1. Our results complement recent work on mouse Ppt1(-/-) cells that shows a reduction in synaptic vesicle pools in primary neuronal cultures and defects in endosomal trafficking in human fibroblasts. The pathways and processes implicated by our modifier loci shed light on the normal cellular function of Ppt1. A greater understanding of Ppt1 function in these cellular processes will provide valuable insight into the molecular etiology of the neuronal dysfunction underlying the disease.
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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.