ArticleHuman molecular genetics2008
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.
Article in Human molecular genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 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
44 citing papers in PubMed, 117 citations in OpenAlex.
- Novel Clinical and Neurophysiological Insights in Neonatal-Onset 3-Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations.Molecular genetics & genomic medicine · 2026Article
- Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review.Frontiers in genetics · 2023Article
- Unraveling the Dichotomy of Enigmatic Serine Protease HtrA2.Frontiers in molecular biosciences · 2022Review
- Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.Neurobiology of aging · 2021Article
- Article
- m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration.Cell research · 2018Review
- Mitochondrial Serine Protease HTRA2 p.G399S in a Female with Di George Syndrome and Parkinson's Disease.Parkinson's disease · 2018Article
- The Therapeutic Potential of Metformin in Neurodegenerative Diseases.Frontiers in endocrinology · 2018Review
- Mitochondrial Quality Control in Neurodegenerative Diseases: Focus on Parkinson's Disease and Huntington's Disease.Frontiers in neuroscience · 2018Review
- Mutation Analysis ofParkinson's disease · 2017Article
- HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- The effectiveness of opioid substitution treatments for patients with opioid dependence: a systematic review and multiple treatment comparison protocol.Systematic reviews · 2014Article
- HTRA2 variations in Taiwanese Parkinson's disease.Journal of neural transmission (Vienna, Austria : 1996) · 2014Article
- Mitochondrial protein quality control in health and disease.British journal of pharmacology · 2014Review
- Neural-specific deletion of Htra2 causes cerebellar neurodegeneration and defective processing of mitochondrial OPA1.PloS one · 2014Article
- Caenorhabditis elegans: a model to investigate oxidative stress and metal dyshomeostasis in Parkinson's disease.Frontiers in aging neuroscience · 2014Review
- Genetic insights into sporadic Parkinson's disease pathogenesis.Current genomics · 2013Article
- Insights into mitochondrial quality control pathways and Parkinson's disease.Journal of molecular medicine (Berlin, Germany) · 2013Review
- Drosophila as a model to study mitochondrial dysfunction in Parkinson's disease.Cold Spring Harbor perspectives in medicine · 2012Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
A novel heterozygous non-synonymous mutation and a novel polymorphism in OMI/HTRA2 locus have been associated with Parkinson's disease (PD) in a German population. In an attempt to replicate these results in an independent population, we analyzed the entire coding region of OMI/HTRA2 in a series of 644 North American PD cases with both young- and late-onset disease and in 828 North American neurologically normal controls. Our results show that neither of the variants previously related to PD were associated with PD in our cohort and that the risk variants were present in neurologically normal controls.
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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.