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https://www.readbyqxmd.com/read/29760428/generation-and-characterisation-of-a-parkin-pacrg-knockout-mouse-line-and-a-pacrg-knockout-mouse-line
#1
Sarah E M Stephenson, Timothy D Aumann, Juliet M Taylor, Jessica R Riseley, Ruili Li, Jeffrey R Mann, Doris Tomas, Paul J Lockhart
Mutations in PARK2 (parkin) can result in Parkinson's disease (PD). Parkin shares a bidirectional promoter with parkin coregulated gene (PACRG) and the transcriptional start sites are separated by only ~200 bp. Bidirectionally regulated genes have been shown to function in common biological pathways. Mice lacking parkin have largely failed to recapitulate the dopaminergic neuronal loss and movement impairments seen in individuals with parkin-mediated PD. We aimed to investigate the function of PACRG and test the hypothesis that parkin and PACRG function in a common pathway by generating and characterizing two novel knockout mouse lines harbouring loss of both parkin and Pacrg or Pacrg alone...
May 14, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29755459/type-i-interferons-autophagy-and-host-metabolism-in-leprosy
#2
REVIEW
Thiago Gomes Toledo Pinto, Leonardo Ribeiro Batista-Silva, Rychelle Clayde Affonso Medeiros, Flávio Alves Lara, Milton Ozório Moraes
For those with leprosy, the extent of host infection by Mycobacterium leprae and the progression of the disease depend on the ability of mycobacteria to shape a safe environment for its replication during early interaction with host cells. Thus, variations in key genes such as those in pattern recognition receptors ( NOD2 and TLR1 ), autophagic flux ( PARK2, LRRK2 , and RIPK2 ), effector immune cytokines ( TNF and IL12 ), and environmental factors, such as nutrition, have been described as critical determinants for infection and disease progression...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29735655/soluble-epoxide-hydrolase-plays-a-key-role-in-the-pathogenesis-of-parkinson-s-disease
#3
Qian Ren, Min Ma, Jun Yang, Risa Nonaka, Akihiro Yamaguchi, Kei-Ichi Ishikawa, Kenta Kobayashi, Shigeo Murayama, Sung Hee Hwang, Shinji Saiki, Wado Akamatsu, Nobutaka Hattori, Bruce D Hammock, Kenji Hashimoto
Parkinson's disease (PD) is characterized as a chronic and progressive neurodegenerative disorder, and the deposition of specific protein aggregates of α-synuclein, termed Lewy bodies, is evident in multiple brain regions of PD patients. Although there are several available medications to treat PD symptoms, these medications do not prevent the progression of the disease. Soluble epoxide hydrolase (sEH) plays a key role in inflammation associated with the pathogenesis of PD. Here we found that MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine)-induced neurotoxicity in the mouse striatum was attenuated by subsequent repeated administration of TPPU, a potent sEH inhibitor...
May 7, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29707191/environmental-and-genetic-variables-influencing-mitochondrial-health-and-parkinson-s-disease-penetrance
#4
REVIEW
Alessandra Zanon, Peter P Pramstaller, Andrew A Hicks, Irene Pichler
There is strong evidence that impairment of mitochondrial function plays a key role in the pathogenesis of PD. The two key PD genes related to mitochondrial function are Parkin ( PARK2 ) and PINK1 ( PARK6 ), and also mutations in several other PD genes, including SNCA , LRRK2 , DJ1 , CHCHD2 , and POLG , have been shown to induce mitochondrial stress. Many mutations are clearly pathogenic in some patients while carriers of other mutations either do not develop the disease or show a delayed onset, a phenomenon known as reduced penetrance...
2018: Parkinson's Disease
https://www.readbyqxmd.com/read/29692364/mitophagy-controls-beige-adipocyte-maintenance-through-a-parkin-dependent-and-ucp1-independent-mechanism
#5
Xiaodan Lu, Svetlana Altshuler-Keylin, Qiang Wang, Yong Chen, Carlos Henrique Sponton, Kenji Ikeda, Pema Maretich, Takeshi Yoneshiro, Shingo Kajimura
Beige adipocytes are an inducible form of mitochondria-enriched thermogenic adipocytes that emerge in response to external stimuli, such as chronic cold exposure. We have previously shown that after the withdrawal of external stimuli, beige adipocytes directly acquire a white fat-like phenotype through autophagy-mediated mitochondrial degradation. We investigated the upstream pathway that mediates mitochondrial clearance and report that Parkin-mediated mitophagy plays a key role in the beige-to-white adipocyte transition...
April 24, 2018: Science Signaling
https://www.readbyqxmd.com/read/29682760/protective-role-of-parkin-in-skeletal-muscle-contractile-and-mitochondrial-function
#6
Gilles Gouspillou, Richard Godin, Jérome Piquereau, Martin Picard, Mahroo Mofarrahi, Jasmin Mathew, Fennigje M Purves-Smith, Nicolas Sgarioto, Russell T Hepple, Yan Burelle, Sabah Na Hussain
KEY POINTS SUMMARY: Parkin, an E3 ubiquitin ligase encoded by the Park2 gene, has been implicated in the regulation of mitophagy, a quality control process whereby defective mitochondria are degraded. The exact physiological significance of Parkin in regulating mitochondrial function and contractility in skeletal muscle remains largely unexplored. Using Park2-/- mice, we show that Parkin ablation causes a decrease in muscle specific force, a severe decrease in mitochondrial respiration, mitochondrial uncoupling and an increased susceptibility to opening of the permeability transition pore...
April 22, 2018: Journal of Physiology
https://www.readbyqxmd.com/read/29671165/polymorphisms-in-park2-and-mrpl37-are-associated-with-higher-risk-of-recurrent-venous-thromboembolism-in-a-sex-specific-manner
#7
Kristina Sundquist, Abrar Ahmad, Peter J Svensson, Bengt Zöller, Jan Sundquist, Ashfaque A Memon
Recent studies indicate that mitochondrial DNA (mtDNA) dysfunction is a biomarker of oxidative stress and can predict the risk of cardiovascular diseases (CVDs). Genetic variants in PARK2 (rs4708928) and MRPL37 (rs10888838) genes have been shown to be associated with altered levels of mtDNA in a sex-specific manner. However, the role of these genetic variants in risk assessment of recurrent venous thromboembolism (VTE) is unknown. We investigated the role of these polymorphisms in VTE recurrence in patients from the Malmö thrombophilia study (MATS, n = 1465), followed for ~ 10 years...
April 18, 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29665074/parkin-deficiency-modulates-nlrp3-inflammasome-activation-by-attenuating-an-a20-dependent-negative-feedback-loop
#8
François Mouton-Liger, Thibault Rosazza, Julia Sepulveda-Diaz, Amélie Ieang, Sidi-Mohamed Hassoun, Emilie Claire, Graziella Mangone, Alexis Brice, Patrick P Michel, Jean-Christophe Corvol, Olga Corti
Neuroinflammation and mitochondrial dysfunction, key mechanisms in the pathogenesis of Parkinson's disease (PD), are usually explored independently. Loss-of-function mutations of PARK2 and PARK6, encoding the E3 ubiquitin protein ligase Parkin and the mitochondrial serine/threonine kinase PINK1, account for a large proportion of cases of autosomal recessive early-onset PD. PINK1 and Parkin regulate mitochondrial quality control and have been linked to the modulation of innate immunity pathways. We report here an exacerbation of NLRP3 inflammasome activation by specific inducers in microglia and bone marrow-derived macrophages from Park2-/- and Pink1-/- mice...
April 17, 2018: Glia
https://www.readbyqxmd.com/read/29626647/multiple-pathways-for-mitophagy-a-neurodegenerative-conundrum-for-parkinson-s-disease
#9
REVIEW
Charleen T Chu
It has been nearly a decade since the first landmark studies implicating familial recessive Parkinson's disease genes in the regulation of selective mitochondrial autophagy. The PTEN-induced kinase 1 (PINK1) and the E3 ubiquitin ligase Parkin (encoded by the PARK2 gene) act together to mark depolarized mitochondria for degradation. There is now an extensive body of literature detailing key mediators and steps in this pathway, based mostly on work in transformed cell lines. However, the degree to which PINK1-triggered mitophagy contributes to mitochondrial quality control in the mammalian brain, and the extent to which its disruption contributes to Parkinson's disease pathogenesis remain uncertain...
April 4, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29572044/identification-of-genome-regions-determining-semen-quality-in-holstein-friesian-bulls-using-information-theory
#10
Alicja Borowska, Tomasz Szwaczkowski, Stanisław Kamiński, Dorota M Hering, Władysław Kordan, Marek Lecewicz
Use of information theory can be an alternative statistical approach to detect genome regions and candidate genes that are associated with livestock traits. The aim of this study was to verify the validity of the SNPs effects on some semen quality variables of bulls using entropy analysis. Records from 288 Holstein-Friesian bulls from one AI station were included. The following semen quality variables were analyzed: CASA kinematic variables of sperm (total motility, average path velocity, straight line velocity, curvilinear velocity, amplitude of lateral head displacement, beat cross frequency, straightness, linearity), sperm membrane integrity (plazmolema, mitochondrial function), sperm ATP content...
March 10, 2018: Animal Reproduction Science
https://www.readbyqxmd.com/read/29568695/novel-compound-heterozygous-mutations-in-the-park2-gene-identified-in-a-chinese-pedigree-with-early-onset-parkinson-s-disease
#11
Yingying Shi, Hideshi Kawakami, Weizhou Zang, Gang Li, Jiewen Zhang, Changshui Xu
Objects: To capture point mutations and short insertions/deletions in 49 previously reported genes associated with Parkinson's disease (PD) in a Chinese pedigree with early-onset Parkinson's disease (EOPD)-affected individuals. Methods: Clinical examinations and genomic analysis were performed on 21 subjects belonging to three generations of a Chinese family. Target region capture and high-throughput sequencing were used for screening 49 genes, which were previously reported to be associated with PD...
January 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29564645/diagnostic-efficacy-and-new-variants-in-isolated-and-complex-autism-spectrum-disorder-using-molecular-karyotyping
#12
Luca Lovrečić, Polona Rajar, Marija Volk, Sara Bertok, Barbara Gnidovec Stražišar, Damjan Osredkar, Maja Jekovec Vrhovšek, Borut Peterlin
Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isolated and complex forms have a significant causal genetic component and submicroscopic genomic copy number variations (CNV) are the most common identifiable genetic factor in these patients. The data on microarray testing in ASD cohorts are still accumulating and novel loci are often identified; therefore, we aimed to evaluate the diagnostic efficacy of the method and the relevance of implementing it into routine genetic testing in ASD patients...
March 21, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29538088/parkin-mediates-mitophagy-to-participate-in-cardioprotection-induced-by-late-exercise-preconditioning-but-bnip3-does-not
#13
Yang Yuan, Shan-Shan Pan
BACKGROUND: Late exercise preconditioning (LEP) is confirmed to have a protective effect on acute cardiovascular stress. However, the mechanisms by which mitophagy participates in exercise preconditioning (EP)-induced cardioprotection remain unclear. LEP may involve mitophagy mediated by the receptors PARK2 gene-encoded E3 ubiquitin ligase (Parkin) and BCL2/adenovirus E1B 19 kDa protein-interacting protein 3 (Bnip3) to scavenge damaged mitochondria. METHODS: Our EP protocol involved four 10-minute periods of running, separated by 10-minute recovery intervals, plus a period of exhaustive running at 24 hours after EP...
May 2018: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/29515107/park2-inhibits-osteosarcoma-cell-growth-through-the-jak2-stat3-vegf-signaling-pathway
#14
Zhong Lei, Huijie Duan, Tengfei Zhao, Yuxiang Zhang, Guoqi Li, Jiahong Meng, Suzhan Zhang, Weiqi Yan
Osteosarcoma (OS) is the most common primary malignant bone tumor mainly occurring in children and adolescents. In past decades, studies revealed that PARK2 was a vital tumor suppressor gene in many malignant solid tumors. However, the role of PARK2 in OS remains largely unclear. Therefore, we assessed PARK2 expression in OS tissue and adjacent non-tumor tissues by immunohistochemical (IHC) analysis, and evaluated PARK2 mRNA expression in OS cell lines by real-time PCR analysis. The HOS and U2OS cell lines were employed to establish a PARK2 overexpression model...
March 7, 2018: Cell Death & Disease
https://www.readbyqxmd.com/read/29508456/autonomic-dysfunction-in-genetic-forms-of-synucleinopathies
#15
REVIEW
Viorica Chelban, Ekawat Vichayanrat, Lucia Schottlaende, Valeria Iodice, Henry Houlden
The discovery of genetic links between alpha-synuclein and PD has opened unprecedented opportunities for research into a new group of diseases, now collectively known as synucleinopathies. Autonomic dysfunction, including cardiac sympathetic denervation, has been reported in familial forms of synucleinopathies that have Lewy bodies at the core of their pathogenesis. SNCA mutations and multiplications, LRRK2 disease with Lewy bodies as well as other common, sporadic forms of idiopathic PD, MSA, pure autonomic failure, and dementia with Lewy bodies have all been associated with dysautonomia...
March 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29497364/vulnerable-parkin-loss-of-function-drosophila-dopaminergic-neurons-have-advanced-mitochondrial-aging-mitochondrial-network-loss-and-transiently-reduced-autophagosome-recruitment
#16
Juliana Cackovic, Susana Gutierrez-Luke, Gerald B Call, Amber Juba, Stephanie O'Brien, Charles H Jun, Lori M Buhlman
Selective degeneration of substantia nigra dopaminergic (DA) neurons is a hallmark pathology of familial Parkinson's disease (PD). While the mechanism of degeneration is elusive, abnormalities in mitochondrial function and turnover are strongly implicated. An Autosomal Recessive-Juvenile Parkinsonism (AR-JP) Drosophila melanogaster model exhibits DA neurodegeneration as well as aberrant mitochondrial dynamics and function. Disruptions in mitophagy have been observed in parkin loss-of-function models, and changes in mitochondrial respiration have been reported in patient fibroblasts...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29494565/albumin-overload-and-pink1-parkin-signaling-related-mitophagy-in-renal-tubular-epithelial-cells
#17
Jin Tan, Qi Xie, Shuling Song, Yuyang Miao, Qiang Zhang
BACKGROUND Albumin, as a major urinary protein component, is a risk factor for chronic kidney disease progression. Mitochondrial dysfunction is one of the main causes of albumin-induced proximal tubule cells injury. Mitophagy is considered as a pivotal protective mechanism for the elimination of dysfunctional mitochondria. The objective of this research was to determine whether albumin overload-induced mitochondrial dysfunction can activate PINK1/Parkin-mediated mitophagy in renal tubular epithelial cells (TECs)...
March 1, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/29458391/down-regulation-of-ghrelin-receptors-on-dopaminergic-neurons-in-the-substantia-nigra-contributes-to-parkinson-s-disease-like-motor-dysfunction
#18
Yukari Suda, Naoko Kuzumaki, Takefumi Sone, Michiko Narita, Kenichi Tanaka, Yusuke Hamada, Chizuru Iwasawa, Masahiro Shibasaki, Aya Maekawa, Miri Matsuo, Wado Akamatsu, Nobutaka Hattori, Hideyuki Okano, Minoru Narita
Ghrelin exerts a wide range of physiological actions throughout the body and appears to be a promising target for disease therapy. Endogenous ghrelin receptors (GHSRs) are present in extrahypothalamic sites including the substantia nigra pars compacta (SNc), which is related to phenotypic dysregulation or frank degeneration in Parkinson's disease (PD). Here we found a dramatic decrease in the expression of GHSR in PD-specific induced pluripotent stem cell (iPSC)-derived dopaminergic (DAnergic) neurons generated from patients carrying parkin gene (PARK2) mutations compared to those from healthy controls...
February 20, 2018: Molecular Brain
https://www.readbyqxmd.com/read/29367643/characterization-of-dopaminergic-system-in-the-striatum-of-young-adult-park2-knockout-rats
#19
Jickssa M Gemechu, Akhil Sharma, Dongyue Yu, Yuran Xie, Olivia M Merkel, Anna Moszczynska
Mutations in parkin gene (Park2) are linked to early-onset autosomal recessive Parkinson's disease (PD) and young-onset sporadic PD. Park2 knockout (PKO) rodents; however, do not display neurodegeneration of the nigrostriatal pathway, suggesting age-dependent compensatory changes. Our goal was to examine dopaminergic (DAergic) system in the striatum of 2 month-old PKO rats in order to characterize compensatory mechanisms that may have occurred within the system. The striata form wild type (WT) and PKO Long Evans male rats were assessed for the levels of DAergic markers, for monoamine oxidase (MAO) A and B activities and levels, and for the levels of their respective preferred substrates, serotonin (5-HT) and ß-phenylethylamine (ß-PEA)...
January 24, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29353703/generation-of-an-induced-pluripotent-stem-cell-line-csc-44-from-a-parkinson-s-disease-patient-carrying-a-compound-heterozygous-mutation-c-823c-t-and-ex6-del-in-the-park2-gene
#20
Ana Marote, Yuriy Pomeshchik, Stefano Goldwurm, Anna Collin, Nuno J Lamas, Luísa Pinto, António J Salgado, Laurent Roybon
Mutations in the PARK2 gene, which encodes PARKIN, are the most frequent cause of autosomal recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line from a 78-year-old patient carrying a compound heterozygous mutation (c.823C>T and EX6del) in the PARK2 gene. Skin fibroblasts were reprogrammed using the non-integrating Sendai virus technology to deliver OCT3/4, SOX2, c-MYC and KLF4 factors. The generated cell line CSC-44 exhibits expression of common pluripotency markers, in vitro differentiation into the three germ layers and normal karyotype...
March 2018: Stem Cell Research
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