ArticleBrain : a journal of neurology2016
Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.
Article in Brain : a journal of neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation.Nature communications · 2026Article
- Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients.Scientific reports · 2026Article
- Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome.Experimental & molecular medicine · 2026Article
- Pancreatic involvement inMolecular genetics and metabolism reports · 2025Article
- EPG5-Related Disorders in Seven New Patients: Refining the Phenotypic Spectrum and Insights on Phenotype-Genotype Correlations.Journal of molecular neuroscience : MN · 2025Article
- epg5 knockout leads to the impairment of reproductive success and courtship behaviour in a zebrafish model of autophagy-related diseases.Biomedical journal · 2022Article
- The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.Autophagy · 2022Article
- Vici syndrome in Israel: Clinical and molecular insights.Frontiers in genetics · 2022Article
- Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5.Communications biology · 2021Article
- TheAutophagy · 2019Article
- The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.Autophagy · 2018Article
- Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.Scientific reports · 2017Article
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Authors and funding
9 authors at 5 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
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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.