ArticleNeurogenetics2014
Rare variants in LRRK1 and Parkinson's disease.
Article in Neurogenetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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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Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- Cell-autonomous role of leucine-rich repeat kinase in the protection of dopaminergic neuron survival.eLife · 2024Article
- Genome-wide DNA methylation analysis in schizophrenia with tardive dyskinesia: a preliminary study.Genes & genomics · 2023Article
- Functions of the RIP kinase family members in the skin.Cellular and molecular life sciences : CMLS · 2023Review
- Transcriptomic analysis reveals an association of FCGBP with Parkinson's disease.NPJ Parkinson's disease · 2022Article
- Role of Receptor Interacting Protein (RIP) kinases in cancer.Genes & diseases · 2022Review
- SCP2 variant is associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects.Human genomics · 2022Article
- Comparative and evolutionary analysis ofFrontiers in genetics · 2022Article
- The role of EEF1D in disease pathogenesis: a narrative review.Annals of translational medicine · 2021Review
- Translational control in aging and neurodegeneration.Wiley interdisciplinary reviews. RNA · 2021Review
- Comprehensive Evolutionary Analysis of Lamprey TNFR-Associated Factors (TRAFs) and Receptor-Interacting Protein Kinase (RIPKs) and Insights Into the Functional Characterization of TRAF3/6 and RIPK1.Frontiers in immunology · 2020Article
- The function of orthologues of the human Parkinson's disease gene LRRK2 across species: implications for disease modelling in preclinical research.The Biochemical journal · 2016Review
- Cellular processes associated with LRRK2 function and dysfunction.The FEBS journal · 2015Review
- Regulation of translation factor EEF1D gene function by alternative splicing.International journal of molecular sciences · 2015Review
- LRRK2 pathobiology in Parkinson's disease.Journal of neurochemistry · 2014Review
- Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 10 institutions in 4 countries.
Funding
Abstract
Approximately 20 % of individuals with Parkinson's disease (PD) report a positive family history. Yet, a large portion of causal and disease-modifying variants is still unknown. We used exome sequencing in two affected individuals from a family with late-onset PD to identify 15 potentially causal variants. Segregation analysis and frequency assessment in 862 PD cases and 1,014 ethnically matched controls highlighted variants in EEF1D and LRRK1 as the best candidates. Mutation screening of the coding regions of these genes in 862 cases and 1,014 controls revealed several novel non-synonymous variants in both genes in cases and controls. An in silico multi-model bioinformatics analysis was used to prioritize identified variants in LRRK1 for functional follow-up. However, protein expression, subcellular localization, and cell viability were not affected by the identified variants. Although it has yet to be proven conclusively that variants in LRRK1 are indeed causative of PD, our data strengthen a possible role for LRRK1 in addition to LRRK2 in the genetic underpinnings of PD but, at the same time, highlight the difficulties encountered in the study of rare variants identified by next-generation sequencing in diseases with autosomal dominant or complex patterns of inheritance.
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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.