ReviewHuman genetics2017
Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.
Review in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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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
44 citing papers in PubMed, 66 citations in OpenAlex.
- Optical mapping reveals a higher level of large-scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease.The Journal of pathology · 2026Article
- The Role of Polyphenols on Cognitive Function and Dementia Through Gut-Microbiota-Brain Axis Modulation: A Narrative Review.Nutrients · 2026Review
- Genome-wide association study of copy number variations in Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Comprehensive genetic screening of the South African Parkinson's disease study collection using the NeuroBooster array.medRxiv : the preprint server for health sciences · 2025Article
- Large-scale copy number variant analysis in genes linked to Parkinson´s disease.NPJ Parkinson's disease · 2025Article
- Genome-wide association study of copy number variations in Parkinson's disease.medRxiv : the preprint server for health sciences · 2025Article
- ZSCAN21 mediates the pathogenic transcriptional induction of α-synuclein in cellular and animal models of Parkinson's disease.Cell death & disease · 2025Article
- Review
- Increased copy-number variant load of associated risk genes in sporadic cases of amyotrophic lateral sclerosis.Cellular and molecular life sciences : CMLS · 2024Article
- High-depth whole-genome sequencing identifies structure variants, copy number variants and short tandem repeats associated with Parkinson's disease.NPJ Parkinson's disease · 2024Article
- Catecholamines and Parkinson's disease: tyrosine hydroxylase (TH) over tetrahydrobiopterin (BH4) and GTP cyclohydrolase I (GCH1) to cytokines, neuromelanin, and gene therapy: a historical overview.Journal of neural transmission (Vienna, Austria : 1996) · 2024Review
- Identifying transgene insertions inPeerJ · 2024Article
- Characterization ofMovement disorders clinical practice · 2023Review
- Copy number analysis from whole-exome sequencing data revealed a novel homozygous deletion inHeliyon · 2023Article
- Genetic landscape of Parkinson's disease and related diseases in Luxembourg.Frontiers in aging neuroscience · 2023Article
- Genetic Study of Early Onset Parkinson's Disease in Cyprus.International journal of molecular sciences · 2022Article
- A multicenter study of genetic testing for Parkinson's disease in the clinical setting.NPJ Parkinson's disease · 2022Article
- Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.Biomedicines · 2022Review
- Dysregulated miRNAs as Biomarkers and Therapeutical Targets in Neurodegenerative Diseases.Journal of personalized medicine · 2022Review
- Neurogenetic disorders across the lifespan: from aberrant development to degeneration.Nature reviews. Neurology · 2022Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Parkinson's disease (PD), the second most common progressive neurodegenerative disorder of aging, was long believed to be a non-genetic sporadic origin syndrome. The proof that several genetic loci are responsible for rare Mendelian forms has represented a revolutionary breakthrough, enabling to reveal molecular mechanisms underlying this debilitating still incurable condition. While single nucleotide polymorphisms (SNPs) and small indels constitute the most commonly investigated DNA variations accounting for only a limited number of PD cases, larger genomic molecular rearrangements have emerged as significant PD-causing mutations, including submicroscopic Copy Number Variations (CNVs). CNVs constitute a prevalent source of genomic variations and substantially participate in each individual's genomic makeup and phenotypic outcome. However, the majority of genetic studies have focused their attention on single candidate-gene mutations or on common variants reaching a significant statistical level of acceptance. This gene-centric approach is insufficient to uncover the genetic background of polygenic multifactorial disorders like PD, and potentially masks rare individual CNVs that all together might contribute to disease development or progression. In this review, we will discuss literature and bioinformatic data describing the involvement of CNVs on PD pathobiology. We will analyze the most frequent copy number changes in familiar PD genes and provide a "systems biology" overview of rare individual rearrangements that could functionally act on commonly deregulated molecular pathways. Assessing the global genome-wide burden of CNVs in PD patients may reveal new disease-related molecular mechanisms, and open the window to a new possible genetic scenario in the unsolved PD puzzle.
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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.