ArticleJournal of human genetics2015
GIGYF2 mutation in late-onset Parkinson's disease with cognitive impairment.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
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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
13 citing papers in PubMed, 30 citations in OpenAlex.
- Tailoring treatments: pharmacogenomics in the management of neurodegenerative diseases.Acta neurologica Belgica · 2026Review
- Dysregulated ribosome quality control in human diseases.The FEBS journal · 2025Review
- Navigating the Neurobiology of Parkinson's: The Impact and Potential of α-Synuclein.Biomedicines · 2024Review
- RNA-binding protein GIGYF2 orchestrates hepatic insulin resistance through STAU1/PTEN-mediated disruption of the PI3K/AKT signaling cascade.Molecular medicine (Cambridge, Mass.) · 2024Article
- A comparative study of structural variant calling in WGS from Alzheimer's disease families.Life science alliance · 2024Article
- Identification of 27 allele-specific regulatory variants in Parkinson's disease using a massively parallel reporter assay.NPJ Parkinson's disease · 2024Article
- Genomic signatures of high-altitude adaptation and chromosomal polymorphism in geladas.Nature ecology & evolution · 2022Article
- High-Throughput Sequencing Haplotype Analysis Indicates inLife (Basel, Switzerland) · 2022Article
- Regulation of the Golgi Apparatus by p38 and JNK Kinases during Cellular Stress Responses.International journal of molecular sciences · 2021Article
- Cascading from SARS-CoV-2 to Parkinson's Disease through Protein-Protein Interactions.Viruses · 2021Article
- Article
- Impact of gene mutation in the development of Parkinson's disease.Genes & diseases · 2019Review
- Whole-exome sequencing associates novelNeurology. Genetics · 2017Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
Abstract
Although in the last two decades there has been considerable progress in understanding the genetic basis of Parkinson's disease (PD), the majority of PD is sporadic and its genetic causes are largely unknown. In an attempt to identify novel genetic causes of PD, whole-exome sequencing and subsequent analyses were performed in a family featuring late-onset PD with cognitive impairment. A novel genetic variant (p.Arg610Gly) in the GIGYF2 gene, previously known to be associated with PD, was identified as potential disease-causing mutation. The GIGYF2 p.Arg610Gly mutation situated in the GYF domain of the encoding protein was predicted to be pathogenic and to disrupt the GYF's ligand-binding abilities. Although further research is still required, this finding may shed light on the GIGYF2-associated mechanisms that lead to PD and suggests insulin dysregulation as a disease-specific mechanism for both PD and cognitive dysfunction.
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What OpenQuestion holds
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.