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Journal articles on the topic 'PRKN'

Author: Grafiati

Published: 9 March 2023

Last updated: 25 July 2025

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1

Bustillos, Bernardo A., Liam T. Cocker, Mathew A. Coban, et al. "Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W." Cells 13, no. 18 (2024): 1540. http://dx.doi.org/10.3390/cells13181540.

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Mutations in the PINK1 and PRKN genes are the most frequent genetic cause of early-onset Parkinson disease. The pathogenic p.R275W substitution in PRKN is the most frequent substitution observed in patients, and thus far has been characterized mostly through overexpression models that suggest a possible gain of toxic misfunction. However, its effects under endogenous conditions are largely unknown. We used patient fibroblasts, isogenic neurons, and post-mortem human brain samples from carriers with and without PRKN p.R275W to assess functional impact. Immunoblot analysis and immunofluorescence

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2

Lubbe, Steven J., Bernabe I. Bustos, Jing Hu, et al. "Assessing the relationship between monoallelic PRKN mutations and Parkinson’s risk." Human Molecular Genetics 30, no. 1 (2021): 78–86. http://dx.doi.org/10.1093/hmg/ddaa273.

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Abstract Biallelic Parkin (PRKN) mutations cause autosomal recessive Parkinson’s disease (PD); however, the role of monoallelic PRKN mutations as a risk factor for PD remains unclear. We investigated the role of single heterozygous PRKN mutations in three large independent case-control cohorts totalling 10 858 PD cases and 8328 controls. Overall, after exclusion of biallelic carriers, single PRKN mutations were more common in PD than controls conferring a &gt;1.5-fold increase in the risk of PD [P-value (P) = 0.035], with meta-analysis (19 574 PD cases and 468 488 controls) confirming incr

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3

Koinuma, Takahiro, Taku Hatano, Koji Kamagata, et al. "Diffusion MRI Captures White Matter Microstructure Alterations in PRKN Disease." Journal of Parkinson's Disease 11, no. 3 (2021): 1221–35. http://dx.doi.org/10.3233/jpd-202495.

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Background: Although pathological studies usually indicate pure dopaminergic neuronal degeneration in patients with parkin (PRKN) mutations, there is no evidence to date regarding white matter (WM) pathology. A previous diffusion MRI study has revealed WM microstructural alterations caused by systemic oxidative stress in idiopathic Parkinson’s disease (PD), and we found that PRKN patients have systemic oxidative stress in serum biomarker studies. Thus, we hypothesized that PRKN mutations might lead to WM abnormalities. Objective: To investigate whether there are WM microstructural abnormalitie

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Borsche, Max, Inke R. König, Sylvie Delcambre, et al. "Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism." Brain 143, no. 10 (2020): 3041–51. http://dx.doi.org/10.1093/brain/awaa246.

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Abstract There is increasing evidence for a role of inflammation in Parkinson’s disease. Recent research in murine models suggests that parkin and PINK1 deficiency leads to impaired mitophagy, which causes the release of mitochondrial DNA (mtDNA), thereby triggering inflammation. Specifically, the CGAS (cyclic GMP-AMP synthase)-STING (stimulator of interferon genes) pathway mitigates activation of the innate immune system, quantifiable as increased interleukin-6 (IL6) levels. However, the role of IL6 and circulating cell-free mtDNA in unaffected and affected individuals harbouring mutations in

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5

Hagan, A. K., K. L. Bowen, A. Strayer-Scherer, H. L. Campbell, and C. Parker. "Interaction of peanut root-knot susceptible and resistant cultivars with nematicides for managing Meloidogyne arenaria and yield response in peanut." Peanut Science 52, no. 1 (2025): 38–49. https://doi.org/10.3146/0095-3679-52.1-ps1639.

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Peanut is an important crop in Alabama, where it is vulnerable to damage by root-knot nematodes, particularly peanut root-knot nematodes (PRKN, Meloidogyne arenaria Race 1). Peanut cultivars with resistance to this nematode, as well as nematicides, are used for minimizing yield losses due to PRKN. In this study, the efficacy of the nematicides fluopyram and aldicarb, applied in-furrow, along with cultivar resistance, are evaluated for managing PRKN populations and damage attributed to them, as well as impacts on pod yields and non-target effects on other diseases. In 2016, 2017, and 2018 on an

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Di Rita, Anthea, Teresa Maiorino, Krenare Bruqi, Floriana Volpicelli, Gian Carlo Bellenchi, and Flavie Strappazzon. "miR-218 Inhibits Mitochondrial Clearance by Targeting PRKN E3 Ubiquitin Ligase." International Journal of Molecular Sciences 21, no. 1 (2020): 355. http://dx.doi.org/10.3390/ijms21010355.

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The selective elimination of dysfunctional mitochondria through mitophagy is crucial for preserving mitochondrial quality and cellular homeostasis. The most described mitophagy pathway is regulated by a positive ubiquitylation feedback loop in which the PINK1 (PTEN induced kinase 1) kinase phosphorylates both ubiquitin and the E3 ubiquitin ligase PRKN (Parkin RBR E3 ubiquitin ligase), also known as PARKIN. This event recruits PRKN to the mitochondria, thus amplifying ubiquitylation signal. Here we report that miR-218 targets PRKN and negatively regulates PINK1/PRKN-mediated mitophagy. Overexpr

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7

Fan, Kuan, Pengzhi Hu, Chengyuan Song, et al. "Novel Compound Heterozygous PRKN Variants in a Han-Chinese Family with Early-Onset Parkinson’s Disease." Parkinson's Disease 2019 (December 23, 2019): 1–6. http://dx.doi.org/10.1155/2019/9024894.

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Genetic factors are thought to play an important role in the pathogenesis of Parkinson’s disease (PD), particularly early-onset PD. The PRKN gene is the primary disease-causing gene for early-onset PD. The details of its functions remain unclear. This study identified novel compound heterozygous variants (p.T240K and p.L272R) of the PRKN gene in a Han-Chinese family with early-onset PD. This finding is helpful in the genetic diagnosis of PD and also the functional research of the PRKN gene.

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8

Li, Dunhui, May T. Aung-Htut, Kristin A. Ham, Sue Fletcher, and Steve D. Wilton. "A Splice Intervention Therapy for Autosomal Recessive Juvenile Parkinson’s Disease Arising from Parkin Mutations." International Journal of Molecular Sciences 21, no. 19 (2020): 7282. http://dx.doi.org/10.3390/ijms21197282.

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Parkin-type autosomal recessive juvenile-onset Parkinson’s disease is caused by mutations in the PRKN gene and accounts for 50% of all autosomal recessive Parkinsonism cases. Parkin is a neuroprotective protein that has dual functions as an E3 ligase in the ubiquitin–proteasome system and as a transcriptional repressor of p53. While genomic deletions of PRKN exon 3 disrupt the mRNA reading frame and result in the loss of functional parkin protein, deletions of both exon 3 and 4 maintain the reading frame and are associated with a later onset, milder disease progression, indicating this particu

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9

van Bree, Elisabeth J., Soufyan Lakbir, Carmen Rubio-Alarcón, et al. "Abstract 401: The impact of DNA structural variants on PRKN gene function and colorectal cancer pathogenesis." Cancer Research 84, no. 6_Supplement (2024): 401. http://dx.doi.org/10.1158/1538-7445.am2024-401.

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Abstract Background: Cancer is caused by somatic DNA alterations, such as single nucleotide variants, somatic copy number alterations and structural variants (SVs). PRKN is among the genes most frequently affected by SVs in colorectal cancer (CRC), with 37% of primary cancers and 56% of metastatic lesions having focal deletions in PRKN. PRKN encodes the E3 ubiquitin ligase Parkin, which regulates the biological activity and degradation of substrates via post-translational modifications. The genomic location of PRKN is within a common fragile site. Therefore, it remains unclear whether the high

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10

Trần, Tín Nghĩa, Vân Khánh Trần, Huy Thịnh Trần, Hoàng Việt Nguyễn, Thanh Thùy Phí та Lê Anh Tuấn Phạm. "XÁC ĐỊNH ĐỘT BIẾN TRÊN GEN PINK1 VÀ GEN PRKN Ở BỆNH NHÂN PARKINSON". Tạp chí Y Dược học Cần Thơ, № 72 (25 березня 2024): 75–81. http://dx.doi.org/10.58490/ctump.2024i72.2419.

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Đặt vấn đề: Bệnh Parkinson là bệnh thoái hóa thần kinh thường gặp ở người cao tuổi, chỉ sau Alzheimer. Bệnh là do ở phần đặc chất đen có hiện tượng thoái hóa chọn lọc của các tế bào dopaminergic, hậu quả là giảm hàm lượng dopamin, ảnh hưởng sự dẫn truyền các tín hiệu thần kinh cho quá trình co cơ. Các kỹ thuật sinh học phân tử đã chứng minh yếu tố di truyền đóng vai trò quan trọng trong tiến trình của bệnh Parkinson. Mục tiêu nghiên cứu: Xác định đột biến trên gen PINK1 và gen PRKN ở bệnh nhân Parkinson bằng phương pháp giải trình tự gen Sanger. Đối tượng và phương pháp nghiên cứu: Nghiên cứu

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11

Lei, Yuchen, and Daniel J. Klionsky. "New regulators of PRKN-independent mitophagy." Autophagy 18, no. 1 (2021): 1–3. http://dx.doi.org/10.1080/15548627.2021.2012867.

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12

Broadway, Benjamin J., Paige K. Boneski, Jenny M. Bredenberg, et al. "Systematic Functional Analysis of PINK1 and PRKN Coding Variants." Cells 11, no. 15 (2022): 2426. http://dx.doi.org/10.3390/cells11152426.

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Loss of either PINK1 or PRKN causes an early onset Parkinson’s disease (PD) phenotype. Functionally, PINK1 and PRKN work together to mediate stress-activated mitochondrial quality control. Upon mitochondrial damage, PINK1, a ubiquitin kinase and PRKN, a ubiquitin ligase, decorate damaged organelles with phosphorylated ubiquitin for sequestration and degradation in lysosomes, a process known as mitophagy. While several genetic mutations are established to result in loss of mitophagy function, many others have not been extensively characterized and are of unknown significance. Here, we analyzed

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13

Bispo, Ana Gabrielle, Caio S. Silva, Camille Sena-dos-Santos, et al. "Investigation of PRKN Mutations in Levodopa-Induced Dyskinesia in Parkinson’s Disease Treatment." Biomedicines 11, no. 8 (2023): 2230. http://dx.doi.org/10.3390/biomedicines11082230.

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Mitophagy is an important process that participates in mitochondrial quality control. Dysfunctions in this process can be caused by mutations in genes like PRKN and are associated with the development and progression of Parkinson’s Disease (PD). The most used drug in the treatment of PD is levodopa (LD), but it can cause adverse effects, such as dyskinesia. Currently, few studies are searching for biomarkers for an effective use of lLD for this disease, especially regarding mitophagy genetics. Thus, this work investigates the association of 14 variants of the PRKN gene with LD in the treatment

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14

Choate, Lauren A., Francis Hoffman, Jessica H. Newman, et al. "Phase Determination and Demonstration of Parental Mosaicism of Intragenic PRKN Deletions Initially Identified by Chromosomal Microarray Analysis." Genes 16, no. 6 (2025): 630. https://doi.org/10.3390/genes16060630.

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Background: Autosomal recessive juvenile Parkinson disease (ARJP) is an early-onset neurodegenerative disorder characterized by Parkinsonian motor symptoms with slow progression and preserved cognition. Biallelic pathogenic variants within the PRKN gene are associated with ARJP. Among PRKN pathogenic variants, deletions are a frequent occurrence and may be identified through chromosomal microarray testing. Methods: Here we present a case with two intragenic PRKN deletions initially identified as a secondary finding using chromosomal microarray. One deletion was paternally inherited and the sec

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15

Sophocleous, Georgios, Darerca Owen, and Helen R. Mott. "The structure and function of protein kinase C-related kinases (PRKs)." Biochemical Society Transactions 49, no. 1 (2021): 217–35. http://dx.doi.org/10.1042/bst20200466.

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The protein kinase C-related kinase (PRK) family of serine/threonine kinases, PRK1, PRK2 and PRK3, are effectors for the Rho family small G proteins. An array of studies have linked these kinases to multiple signalling pathways and physiological roles, but while PRK1 is relatively well-characterized, the entire PRK family remains understudied. Here, we provide a holistic overview of the structure and function of PRKs and describe the molecular events that govern activation and autoregulation of catalytic activity, including phosphorylation, protein interactions and lipid binding. We begin with

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16

Koros, Christos, Athina-Maria Simitsi, Nikolaos Papagiannakis, et al. "Precision Dopaminergic Treatment in a Cohort of Parkinson’s Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review." Neurology International 16, no. 4 (2024): 833–44. http://dx.doi.org/10.3390/neurolint16040062.

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Introduction: Parkinson’s disease (PD) patients harboring recessive gene variants exhibit a distinct clinical phenotype with an early disease onset and relatively mild symptoms. Data concerning individualized therapy for autosomal recessive PD forms are still scarce. Methods: Demographic and treatment data of a cohort of PD carriers of recessive genes (nine homozygous or compound heterozygous PRKN carriers, four heterozygous PRKN carriers, and three biallelic PINK1 carriers) were evaluated. Results: The average levodopa equivalent daily dose (LEDD) was 806.8 ± 453.5 (range 152–1810) in PRKN ca

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17

Hutchinson, Catherine L., Peter N. Lowe, Stephen H. McLaughlin, Helen R. Mott, and Darerca Owen. "Differential Binding of RhoA, RhoB, and RhoC to Protein Kinase C-Related Kinase (PRK) Isoforms PRK1, PRK2, and PRK3: PRKs Have the Highest Affinity for RhoB." Biochemistry 52, no. 45 (2013): 7999–8011. http://dx.doi.org/10.1021/bi401216w.

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18

Brewer, Kelly, Isabel Nip, Justin Bellizzi, Jessica Costa-Guda, and Andrew Arnold. "Molecular analysis of cyclin D1 modulators PRKN and FBX4 as candidate tumor suppressors in sporadic parathyroid adenomas." Endocrine Connections 10, no. 3 (2021): 302–8. http://dx.doi.org/10.1530/ec-21-0055.

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Objective Primary hyperparathyroidism is most often caused by a sporadic single-gland parathyroid adenoma (PTA), a tumor type for which cyclin D1 is the only known and experimentally validated oncoprotein. However, the molecular origins of its frequent overexpression have remained mostly elusive. In this study, we explored a potential tumorigenic mechanism that could increase cyclin D1 stability through a defect in molecules responsible for its degradation. Methods We examined two tumor suppressor genes known to modulate cyclin D1 ubiquitination, PRKN and FBXO4 (FBX4), for evidence of classic

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19

Tan, Manuela M. X., Naveed Malek, Michael A. Lawton, et al. "Genetic analysis of Mendelian mutations in a large UK population-based Parkinson’s disease study." Brain 142, no. 9 (2019): 2828–44. http://dx.doi.org/10.1093/brain/awz191.

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AbstractOur objective was to define the prevalence and clinical features of genetic Parkinson’s disease in a large UK population-based cohort, the largest multicentre prospective clinico-genetic incident study in the world. We collected demographic data, Movement Disorder Society Unified Parkinson’s Disease Rating Scale scores, and Montreal Cognitive Assessment scores. We analysed mutations in PRKN (parkin), PINK1, LRRK2 and SNCA in relation to age at symptom onset, family history and clinical features. Of the 2262 participants recruited to the Tracking Parkinson’s study, 424 had young-onset P

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20

Ghazavi, Farzaneh, Zeinab Fazlali, Setareh Sadat Banihosseini, et al. "PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations." Movement Disorders 26, no. 1 (2010): 80–89. http://dx.doi.org/10.1002/mds.23417.

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21

Bradshaw, Aaron V., Philip Campbell, Anthony H. V. Schapira, Huw R. Morris, and Jan-Willem Taanman. "The PINK1—Parkin mitophagy signalling pathway is not functional in peripheral blood mononuclear cells." PLOS ONE 16, no. 11 (2021): e0259903. http://dx.doi.org/10.1371/journal.pone.0259903.

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Mutations in the PINK1 and PRKN genes are the most common cause of early-onset familial Parkinson disease. These genes code for the PINK1 and Parkin proteins, respectively, which are involved in the degradation of dysfunctional mitochondria through mitophagy. An early step in PINK1 –Parkin mediated mitophagy is the ubiquitination of the mitofusin proteins MFN1 and -2. The ubiquitination of MFN1 and -2 in patient samples may therefore serve as a biomarker to determine the functional effects of PINK1 and PRKN mutations, and to screen idiopathic patients for potential mitophagy defects. We aimed

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22

Ainagulova, Galiya, Akmaral Aripova, Olga Bulgakova, and Rakhmetkazhy Bersimbay. "Study of the content of parkin and mitofilin in the lung tissue of rats exposed to chrysotile asbestos." Experimental Biology 100, no. 3 (2024): 118–26. http://dx.doi.org/10.26577/bb.2024.v100.i3.010.

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The work analyzed the content of Parkin (PRKN) and mitofilin (IMMT - Inner mitochondrial membrane transmembrane) proteins in the lung tissue of Wistar rats under the influence of chrysotile asbestos. To reproduce experimental asbestosis, chrysotile asbestos dust was injected intratracheally into the lungs of experimental rats, and saline solution was injected into control animals. The animals were divided into three groups: 1) control; 2) poisoned with asbestos at a dose of 25 mg; 3) poisoned with asbestos at a dose of 50 mg. Two months after asbestos inoculation, the lungs of the rats were re

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23

Meschede, Jens, Maria Šadić, Nikolas Furthmann, et al. "The parkin-coregulated gene product PACRG promotes TNF signaling by stabilizing LUBAC." Science Signaling 13, no. 617 (2020): eaav1256. http://dx.doi.org/10.1126/scisignal.aav1256.

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The Parkin-coregulated gene (PACRG), which encodes a protein of unknown function, shares a bidirectional promoter with Parkin (PRKN), which encodes an E3 ubiquitin ligase. Because PRKN is important in mitochondrial quality control and protection against stress, we tested whether PACRG also affected these pathways in various cultured human cell lines and in mouse embryonic fibroblasts. PACRG did not play a role in mitophagy but did play a role in tumor necrosis factor (TNF) signaling. Similarly to Parkin, PACRG promoted nuclear factor κB (NF-κB) activation in response to TNF. TNF-induced nuclea

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24

Santos-Lobato, Bruno L., Artur Schumacher-Schuh, Ignacio F. Mata, et al. "Genetics of Parkinson’s disease in Brazil: a systematic review of monogenic forms." Arquivos de Neuro-Psiquiatria 79, no. 7 (2021): 612–23. http://dx.doi.org/10.1590/0004-282x-anp-2020-0409.

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ABSTRACT Background: Increasing numbers of mutations causing monogenic forms of Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific genetic profile of Brazilian patients is essential for improving genetic counseling and for selecting patients for clinical trials. Objective: We conducted a systematic review to identify genetic studies on Brazilian patients and to set a background for future studies on monogenic forms of PD in Brazil. Methods: We searched MEDLINE, E

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25

Araya, Jun, Kazuya Tsubouchi, Nahoko Sato, et al. "PRKN-regulated mitophagy and cellular senescence during COPD pathogenesis." Autophagy 15, no. 3 (2018): 510–26. http://dx.doi.org/10.1080/15548627.2018.1532259.

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26

Ruiz-Lopez, Marta, Maria Eliza Freitas, Lais M. Oliveira, et al. "Diagnostic delay in Parkinson's disease caused by PRKN mutations." Parkinsonism & Related Disorders 63 (June 2019): 217–20. http://dx.doi.org/10.1016/j.parkreldis.2019.01.010.

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27

Milanowski, Łukasz, Piotr Szukało, Małgorzata Kowalska, Alicja Sikorska, Dorota Hoffman-Zacharska, and Dariusz Koziorowski. "Clinical and Genetic Characteristics of Parkinson’s Disease Patients with Substantia Nigra Hyperechogenicity." International Journal of Molecular Sciences 26, no. 12 (2025): 5492. https://doi.org/10.3390/ijms26125492.

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Hyperechogenicity of the substantia nigra (SN) is observed using transcranial ultrasonography in patients with Parkinson’s Disease. In this study, we investigated whether monogenic forms of PD are more prevalent in these patients and clinically defined their characteristics. Eighty-eight PD patients were part of the analysis. All patients received clinical diagnoses from experienced movement disorder specialists. Each patient underwent transcranial ultrasonography and genetic testing for mutations in the SNCA, PRKN, LRRK2, DJ1, and PINK1 genes. SN hyperechogenicity was identified in 48 patient

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Tanaka, Kosuke, Yasuki Adachi, Miyuki Yoshiya, et al. "Abstract 5265: Targeting mtDNA dynamics enhances immunogenicity and sensitizes KRAS mutant cancers to PD-1 blockade." Cancer Research 84, no. 6_Supplement (2024): 5265. http://dx.doi.org/10.1158/1538-7445.am2024-5265.

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Abstract Mitochondrial DNA (mtDNA) can stimulate an innate immune response that potentiates the efficacy of cancer immunotherapy. However, mtDNA-targeting therapy has not been developed to enhance this innate immune system in specific cancer subtypes efficiently. Here we discover that mtDNA is enriched in KRAS mutant tumors where the DNA sensor machinery cGAS-STING signaling is primed for innate immune activation. Intriguingly, MEK inhibitor induces cytosolic mtDNA release to potently activate the cGAS-STING signaling, which in turn induces PRKN-mediated mitophagy in response to mitochondrial

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Seike, Naohiko, Akio Yokoseki, Ryoko Takeuchi, et al. "Genetic Variations and Neuropathologic Features of Patients with PRKN Mutations." Movement Disorders 36, no. 7 (2021): 1634–43. http://dx.doi.org/10.1002/mds.28521.

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Niu, Kaifeng, Hongbo Fang, Zixiang Chen, et al. "USP33 deubiquitinates PRKN/parkin and antagonizes its role in mitophagy." Autophagy 16, no. 4 (2019): 724–34. http://dx.doi.org/10.1080/15548627.2019.1656957.

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Rusilowicz-Jones, Emma V., Francesco G. Barone, Fernanda Martins Lopes, et al. "Benchmarking a highly selective USP30 inhibitor for enhancement of mitophagy and pexophagy." Life Science Alliance 5, no. 2 (2021): e202101287. http://dx.doi.org/10.26508/lsa.202101287.

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The deubiquitylase USP30 is an actionable target considered for treatment of conditions associated with defects in the PINK1-PRKN pathway leading to mitophagy. We provide a detailed cell biological characterization of a benzosulphonamide molecule, compound 39, that has previously been reported to inhibit USP30 in an in vitro enzymatic assay. The current compound offers increased selectivity over previously described inhibitors. It enhances mitophagy and generates a signature response for USP30 inhibition after mitochondrial depolarization. This includes enhancement of TOMM20 and SYNJ2BP ubiqui

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Narendra, Derek P., and Julia A. Thayer. "Midbrain on Fire: mtDNA Ignites Neuroinflammation in PRKN ‐P." Movement Disorders 37, no. 7 (2022): 1332–34. http://dx.doi.org/10.1002/mds.29073.

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Montenegro-Venegas, Carolina, Anil Annamneedi, Sheila Hoffmann-Conaway, Eckart D. Gundelfinger, and Craig C. Garner. "BSN (bassoon) and PRKN/parkin in concert control presynaptic vesicle autophagy." Autophagy 16, no. 9 (2020): 1732–33. http://dx.doi.org/10.1080/15548627.2020.1801259.

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34

Dekker, M. C. J., J. M. Suleiman, D. Bhwana, et al. "PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa." Parkinsonism & Related Disorders 73 (April 2020): 14–15. http://dx.doi.org/10.1016/j.parkreldis.2020.02.014.

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35

Hopfner, Franziska, Stefanie H. Mueller, Silke Szymczak, et al. "Private variants in PRKN are associated with late-onset Parkinson's disease." Parkinsonism & Related Disorders 75 (June 2020): 24–26. http://dx.doi.org/10.1016/j.parkreldis.2020.05.003.

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36

Dächsel, Justus C., Ignacio F. Mata, Owen A. Ross, et al. "Digenic parkinsonism: Investigation of the synergistic effects of PRKN and LRRK2." Neuroscience Letters 410, no. 2 (2006): 80–84. http://dx.doi.org/10.1016/j.neulet.2006.06.068.

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37

Agujetas, V. Roca, E. Barbero-Camps, C. De Dios, and A. Colell. "Mitochondrial cholesterol enrichment affects PINK1-PRKN-mediated mitophagy in Alzheimer's disease." European Neuropsychopharmacology 29 (2019): S452. http://dx.doi.org/10.1016/j.euroneuro.2018.11.678.

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38

Bravo, Paloma, Hossein Darvish, Abbas Tafakhori, et al. "Molecular characterization of PRKN structural variations identified through whole-genome sequencing." Molecular Genetics & Genomic Medicine 6, no. 6 (2018): 1243–48. http://dx.doi.org/10.1002/mgg3.482.

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39

Zhang, Anqi, Shilan Luo, Peng Li, et al. "Urolithin A alleviates radiation pneumonitis by activating PINK1/PRKN-mediated Mitophagy." International Immunopharmacology 156 (May 2025): 114671. https://doi.org/10.1016/j.intimp.2025.114671.

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40

Papagiannakis, Nikolaos, Hui Liu, Christos Koros, et al. "Parkin mRNA Expression Levels in Peripheral Blood Mononuclear Cells in Parkin‐Related Parkinson's Disease." Movement Disorders, February 15, 2024. http://dx.doi.org/10.1002/mds.29739.

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AbstractIntroductionPathogenic variants in parkin (PRKN gene) are the second most prevalent known monogenic cause of Parkinson's disease (PD). How monoallelic or biallelic pathogenic variants in the PRKN gene may affect its transcription in patient‐derived biological material has not been systematically studied.MethodsPRKN mRNA expression levels were measured with real‐time polymerase chain reaction (RT‐PCR) in peripheral blood mononuclear cells (PBMCs). PBMCs were derived from PRKN‐mutated PD patients (PRKN‐PD) (n = 12), sporadic PD (sPD) (n = 21) and healthy controls (n = 21). Six of the PRK

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Grabau, Zane J., Sabina Budhathoki, Rebeca Sandoval Ruiz, and Chang Liu. "Fluopyram or Resistant Cultivars Manage Meloidogyne arenaria Infestation in Virginia-Type Peanut Production." Journal of Nematology 57, no. 1 (2025). https://doi.org/10.2478/jofnem-2025-0010.

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Abstract Meloidogyne arenaria (peanut root-knot nematode, PRKN) is an important pest in peanut (Arachis hypogea) production in the United States, including specialty Virginia-type peanuts. Cultivars resistant to PRKN and nematicide application are two available methods for managing PRKN. The objectives of this study were to determine the impacts of resistant Virginia-type peanut cultivars (Georgia-19HP and TifJumbo) on (1) management of PRKN abundances and damage and (2) total free-living nematode soil abundances. A common susceptible cultivar (Bailey II) with or without in-furrow fluopyram ne

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Kluge, Annika, Max Borsche, Linn Streubel‐Gallasch та ін. "α‐Synuclein Pathology in PRKN‐Linked Parkinson's Disease: New Insights from a Blood‐Based Seed Amplification Assay". Annals of Neurology, 28 березня 2024. http://dx.doi.org/10.1002/ana.26917.

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Pathogenic variants in PRKN cause early‐onset Parkinson's disease (PD), while the role of alpha‐synuclein in PRKN‐PD remains uncertain. One study performed a blood‐based alpha‐synuclein seed amplification assay (SAA) in PRKN‐PD, not detecting seed amplification in 17 PRKN‐PD patients. By applying a methodologically different SAA focusing on neuron‐derived extracellular vesicles, we demonstrated alpha‐synuclein seed amplification in 8 of 13 PRKN‐PD patients, challenging the view of PRKN‐PD as a non‐synucleinopathy. Moreover, we performed blinded replication of the neuron‐derived extracellular v

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Kano, Masayoshi, Masashi Takanashi, Genko Oyama, et al. "Reduced astrocytic reactivity in human brains and midbrain organoids with PRKN mutations." npj Parkinson's Disease 6, no. 1 (2020). http://dx.doi.org/10.1038/s41531-020-00137-8.

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AbstractParkin (encoded by PRKN) is a ubiquitin ligase that plays an important role in cellular mitochondrial quality control. Mutations in PRKN cause selective dopaminergic cell loss in the substantia nigra and are presumed to induce a decrease in mitochondrial function caused by the defective clearance of mitochondria. Several studies have demonstrated that parkin dysfunction causes mitochondrial injury and astrocytic dysfunction. Using immunohistochemical methods, we analyzed astrocytic changes in human brains from individuals with PRKN mutations. Few glial fibrillary acidic protein- and vi

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Trinh, Joanne, Andrew A. Hicks, Inke R. König, et al. "Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease." Brain, December 7, 2022. http://dx.doi.org/10.1093/brain/awac464.

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Abstract Biallelic mutations in PINK1/PRKN cause recessive Parkinson’s disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA (mtDNA) integrity and inflammation as disease modifiers in carriers of mutations in these genes. MtDNA integrity was investigated in a large collection of biallelic (n = 84) and monoallelic (n = 170) carriers of PINK1/PRKN mutations, idiopathic Parkinson’s disease patients (n = 67) and controls (n = 90). In addition, we studied global gene expression and serum cytokine levels in a subset. Affected and unaf

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Daida, Kensuke, Manabu Funayama, Kimberley J. Billingsley, et al. "Long‐Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease." Movement Disorders, November 5, 2023. http://dx.doi.org/10.1002/mds.29610.

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AbstractBackgroundParkin RBR E3 ubiquitin‐protein ligase (PRKN) mutations are the most common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is located in FRA6E, which is one of the common fragile sites in the human genome, making this region prone to structural variants. However, complex structural variants such as inversions of PRKN are seldom reported, suggesting that there are potentially unrevealed complex pathogenic PRKN structural variants.ObjectivesTo identify complex structural variants in PRKN using long‐read sequencing.MethodsWe investigated the genetic

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Daida, Kensuke, Hiroyo Yoshino, Laksh Malik, et al. "The Utility of Long‐Read Sequencing in Diagnosing Early Onset Parkinson's Disease." Annals of Neurology, December 19, 2024. https://doi.org/10.1002/ana.27155.

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ObjectiveVariants in PRKN and PINK1 are the leading cause of early‐onset autosomal recessive Parkinson's disease, yet many cases remain genetically unresolved. We previously identified a 7 megabases complex structural variant in a pair of monozygotic twins using Oxford Nanopore Technologies (ONT) long‐read sequencing. This study aims to determine if ONT long‐read sequencing can detect a second variant in other unresolved early‐onset Parkinson's disease (EOPD) cases with 1 heterozygous PRKN or PINK1 variant.MethodsONT long‐read sequencing was performed on EOPD patients with 1 reported PRKN/PINK

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Munk, Sebastian H. N., Vasileios Voutsinos, and Vibe H. Oestergaard. "Large Intronic Deletion of the Fragile Site Gene PRKN Dramatically Lowers Its Fragility Without Impacting Gene Expression." Frontiers in Genetics 12 (July 20, 2021). http://dx.doi.org/10.3389/fgene.2021.695172.

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Common chromosomal fragile sites (CFSs) are genomic regions prone to form breaks and gaps on metaphase chromosomes during conditions of replication stress. Moreover, CFSs are hotspots for deletions and amplifications in cancer genomes. Fragility at CFSs is caused by transcription of extremely large genes, which contributes to replication problems. These extremely large genes do not encode large proteins, but the extreme sizes of the genes originate from vast introns. Intriguingly, the intron sizes of extremely large genes are conserved between mammals and birds. Here, we have used reverse gene

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Yokota, Mutsumi, Yutaro Yoshino, Mitsuko Hosoi, et al. "Reduced ER-mitochondrial contact sites and mitochondrial Ca2+ flux in PRKN-mutant patient tyrosine hydroxylase reporter iPSC lines." Frontiers in Cell and Developmental Biology 11 (September 8, 2023). http://dx.doi.org/10.3389/fcell.2023.1171440.

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Endoplasmic reticulum-mitochondrial contact sites (ERMCS) play an important role in mitochondrial dynamics, calcium signaling, and autophagy. Disruption of the ERMCS has been linked to several neurodegenerative diseases, including Alzheimer’s disease (AD), Parkinson’s disease (PD), and amyotrophic lateral sclerosis (ALS). However, the etiological role of ERMCS in these diseases remains unclear. We previously established tyrosine hydroxylase reporter (TH-GFP) iPSC lines from a PD patient with a PRKN mutation to perform correlative light-electron microscopy (CLEM) analysis and live cell imaging

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Lo, Tzuyao, Itaru Kushima, Hiroki Kimura, et al. "Association between copy number variations in parkin (PRKN) and schizophrenia and autism spectrum disorder: A case–control study." Neuropsychopharmacology Reports, November 2023. http://dx.doi.org/10.1002/npr2.12370.

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AbstractAimThe present study aimed to examine the association between copy number variations (CNVs) in parkin (PRKN) and schizophrenia (SCZ) and autism spectrum disorder (ASD) in a large case–control sample.MethodArray comparative genomic hybridization was performed on 3111 cases with SCZ, 1236 cases with ASD, and 2713 controls. We systematically prioritized likely pathogenic CNVs (LP‐CNVs) in PRKN and examined their association with SCZ and ASD.ResultsIn total, 3014 SCZ cases (96.9%), 1205 ASD cases (97.5%), and 2671 controls (98.5%) passed quality control. We found that monoallelic carriers

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Bovenzi, Roberta, Matteo Conti, Giulia Rebecca Degoli, et al. "Pregnancy, fertile life factors, and associated clinical course in PRKN early-onset Parkinson’s disease." Neurological Sciences, September 2, 2023. http://dx.doi.org/10.1007/s10072-023-07029-8.

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Abstract Introduction As the most common cause of autosomal recessive early onset Parkinson’s disease (EOPD), parkin type Parkinson’s disease (PRKN-PD) may affect female patients in childbearing age. Accordingly, issues related to fertility must be adequately addressed. Here, we landscaped fertile life factors and pregnancy course of a PRKN-PD cohort, including both novel cases directly observed at our center and published ones. Methods Six patients with confirmed PRKN-PD were examined by a structured interview on reproductive factors and associated modifications of PD disturbances, including

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