ArticleNeurology. Genetics2016
Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD.
Article in Neurology. Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 27 citations in OpenAlex.
- Cis or trans: a puzzle of Parkin activation mechanism.Essays in biochemistry · 2026Review
- Deficiency of parkin causes neurodegeneration and accumulation of pathological α-synuclein in monkey models.The Journal of clinical investigation · 2024Article
- Transposable Elements: Emerging Therapeutic Targets in Neurodegenerative Diseases.Neurotoxicity research · 2024Review
- Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.Neurology. Genetics · 2023Article
- Transcriptome datasets of neural progenitors and neurons differentiated from induced pluripotent stem cells of healthy donors and Parkinson's disease patients with mutations in theData in brief · 2022Article
- Levodopa-responsive dystonia caused by biallelicBrain communications · 2021Article
- The Genetic Architecture of Parkinson Disease in Spain: Characterizing Population-Specific Risk, Differential Haplotype Structures, and Providing Etiologic Insight.Movement disorders : official journal of the Movement Disorder Society · 2019Article
- Parkin truncating variants result in a loss-of-function phenotype.Scientific reports · 2019Article
- Warning SINEs: Alu elements, evolution of the human brain, and the spectrum of neurological disease.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2018Review
- RNA Editing and Retrotransposons in Neurology.Frontiers in molecular neuroscience · 2018Review
- The Alu neurodegeneration hypothesis: A primate-specific mechanism for neuronal transcription noise, mitochondrial dysfunction, and manifestation of neurodegenerative disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2017Article
- Article
- Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.Frontiers in neurology · 2017Article
Corrections and comments
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Authors and funding
4 authors at 1 institution.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesTo identify the genomic mechanisms that result in PARK2 large gene deletions.
methodsWe conducted mutation screening using PCR amplification of PARK2-coding regions and exon-intron boundaries, followed by sequencing to evaluate a large series of 244 unrelated Portuguese patients with symptoms of Parkinson disease. For the detection of large gene rearrangements, we performed multiplex ligation-dependent probe amplification, followed by long-range PCR and sequencing to map deletion breakpoints.
resultsWe identified biallelic pathogenic parkin mutations in 40 of the 244 patients. There were 18 different mutations, some of them novel. This study included mapping of 17 deletion breakpoints showing that nonhomologous end joining is the most common mechanism responsible for these gene rearrangements. None of these deletion breakpoints were previously described, and only one was present in 2 unrelated families, indicating that most of the deletions result from independent events.
conclusionsThe c.155delA mutation is highly prevalent in the Portuguese population (62.5% of the cases). Large deletions were present in 42.5% of the patients. We present the largest study on the molecular mechanisms that mediate PARK2 deletions in a homogeneous population.
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Registered trials
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