keyword
MENU ▼
Read by QxMD icon Read
search

DJ1

keyword
https://www.readbyqxmd.com/read/29644727/genotype-phenotype-relations-for-the-parkinson-s-disease-genes-parkin-pink1-dj1-mdsgene-systematic-review
#1
REVIEW
Meike Kasten, Corinna Hartmann, Jennie Hampf, Susen Schaake, Ana Westenberger, Eva-Juliane Vollstedt, Alexander Balck, Aloysius Domingo, Franca Vulinovic, Marija Dulovic, Ingo Zorn, Harutyun Madoev, Hanna Zehnle, Christina M Lembeck, Leopold Schawe, Jennifer Reginold, Jana Huang, Inke R König, Lars Bertram, Connie Marras, Katja Lohmann, Christina M Lill, Christine Klein
This first comprehensive MDSGene review is devoted to the 3 autosomal recessive Parkinson's disease forms: PARK-Parkin, PARK-PINK1, and PARK-DJ1. It followed MDSGene's standardized data extraction protocol and screened a total of 3652 citations and is based on fully curated phenotypic and genotypic data on >1100 patients with recessively inherited PD because of 221 different disease-causing mutations in Parkin, PINK1, or DJ1. All these data are also available in an easily searchable online database (www...
April 11, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29559387/endurance-exercise-mediates-neuroprotection-against-mptp-mediated-parkinson-s-disease-via-enhanced-neurogenesis-antioxidant-capacity-and-autophagy
#2
Yongchul Jang, Insu Kwon, Wankeun Song, Ludmila M Cosio-Lima, Youngil Lee
Parkinson's disease (PD) is a neurodegenerative disorder caused by loss of dopaminergic neurons in the substantia nigra, leading to motor dysfunction. Growing evidence has demonstrated that endurance exercise (EE) confers neuroprotection against PD; However, the exact molecular mechanisms responsible for exercise-induced protection of dopaminergic neurons in PD remain unclear. Since oxidative stress plays a key role in the degenerative process of PD. We investigated whether EE-induced neuroprotection is associated with enhanced antioxidative capacity and autophagy, using a mouse model of PD induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) administration...
March 17, 2018: Neuroscience
https://www.readbyqxmd.com/read/29441509/nrf2-dj1-and-snrx1-and-their-prognostic-impact-in-astrocytic-gliomas
#3
Joonas Haapasalo, Kristiina Nordfors, Kirsi J Granberg, Tomi Kivioja, Matti Nykter, Hannu Haapasalo, Ylermi Soini
Nuclear factor erythroid 2-related factor 2 (NRF2), DJ1 and sulfiredoxin 1 (SRXN1) are transcription factors which protect cells from the oxidative damage caused by reactive oxygen species and, on the other hand, are associated with resistance to cancer treatments. The immunohistochemical expression of NRF2, DJ1 and SRNX1 was assessed in human grade II - IV astrocytic gliomas. Their association to clinicopathologic and essential molecular factors was evaluated. The RNA expression levels and genetic alterations were analyzed from publicly available datasets...
February 14, 2018: Histology and Histopathology
https://www.readbyqxmd.com/read/29325612/genetics-of-parkinson-disease
#4
Aloysius Domingo, Christine Klein
An understanding of the genetic etiology of Parkinson disease (PD) has become imperative for the modern-day neurologist. Although genetic forms cause only a minority of PD, the disease mechanisms they elucidate advance the understanding of idiopathic cases. Moreover, recently identified susceptibility variants contribute to complex-etiology PD and broaden the contribution of genetics beyond familial and early-onset cases. Dominantly inherited monogenic forms mimic idiopathic PD and are caused by mutations or copy number variations of SNCA, LRRK2, and VPS35...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29248340/role-of-lrrk2-and-snca-in-autosomal-dominant-parkinson-s-disease-in-turkey
#5
Christoph Kessler, Burcu Atasu, Hasmet Hanagasi, Javier Simón-Sánchez, Ann-Kathrin Hauser, Meltem Pak, Basar Bilgic, Nihan Erginel-Unaltuna, Hakan Gurvit, Thomas Gasser, Ebba Lohmann
INTRODUCTION: Mutations in the LRRK2 and alpha-synuclein (SNCA) genes are well-established causes of autosomal dominant Parkinson's disease (PD). However, their frequency differs widely between ethnic groups. Only three studies have screened all coding regions of LRRK2 and SNCA in European samples so far. In Turkey, the role of LRRK2 in Parkinson's disease has been studied fragmentarily, and the incidence of SNCA copy number variations is unknown. The purpose of this study is to determine the frequency of LRRK2 and SNCA mutations in autosomal dominant PD in Turkey...
March 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29142100/abnormal-visual-gain-control-and-excitotoxicity-in-early-onset-parkinson-s-disease-drosophila-models
#6
Marc Mason Himmelberg, Ryan J H West, Christopher J H Elliott, Alex R Wade
The excitotoxic theory of Parkinson's disease (PD) hypothesises that a pathophysiological degeneration of dopaminergic neurons stems from neural hyperactivity at early stages of disease, leading to mitochondrial stress and cell death. Recent research has harnessed the visual system of Drosophila PD models to probe this hypothesis. Here, we investigate whether abnormal visual sensitivity and excitotoxicity occur in early-onset PD Drosophila models DJ-1Δ72, DJ1-Δ93, and PINK15. We used an electroretinogram to record steady state visually evoked potentials driven by temporal contrast stimuli...
November 15, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/29109055/characterization-of-oromotor-and-limb-motor-dysfunction-in-the-dj1-model-of-parkinson-disease
#7
Katie M Yang, Katherine V Blue, Haleigh M Mulholland, Meghna P Kurup, Cynthia A Kelm-Nelson, Michelle R Ciucci
Parkinson disease (PD) is devastating to sensorimotor function that includes cranial/oromotor and limb motor deficits. However, the onset, progression, and neural correlates of PD-related dysfunctions are poorly understood. To address this gap, we used a genetic rat model of PD, DJ1 -/-, and hypothesized that motor deficits would manifest early in the disease process, be progressive in nature, and be related to pathologies in brainstem structures associated with sensorimotor function. The present study compares homozygous DJ1 -/- male rats to age-matched wild type controls...
February 26, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/28803490/parkin-pink1-and-dj1-as-possible-modulators-of-mtor-pathway-in-ganglioglioma
#8
Katarzyna Drapalo, Jaroslaw Jozwiak
PURPOSE: Ganglioglioma (GG) is a non-malignant tumor classified as G1 by the WHO. Although we currently know that the neoplasm may result from the hyperactivity of protein kinase B (PKB or Akt) or extracellular-regulated kinase (Erk), which upregulates mammalian target of rapamycin kinase (mTOR) and leads to translation of proteins responsible for cell cycle regulation, there are still many questions to be answered. In the current paper we try to analyze the link between GG formation and activity of three proteins known to play a role in neuroprotection (parkin, PINK1 and DJ1)...
February 2018: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28511254/genetic-forms-of-parkinson-s-disease
#9
Christine Y Kim, Roy N Alcalay
One of the greatest advances in Parkinson's disease (PD) research in the past two decades has been a better understanding of PD genetics. Of the many candidate genes investigated, the best studied include LRRK2, SNCA, VPS35, Parkin, PINK1, and DJ1. The authors review the key clinical features of these monogenic forms, as well as for the prevalent risk factor gene, GBA, including the phenotype, clinical course, and treatment response. They also outline areas for future investigation: longitudinal studies of PD's clinical course, the identification of its premotor manifestations, and its specific mechanisms of pathogenicity...
April 2017: Seminars in Neurology
https://www.readbyqxmd.com/read/28444544/methylglyoxal-detoxification-by-a-dj-1-family-protein-provides-dual-abiotic-and-biotic-stress-tolerance-in-transgenic-plants
#10
Prasad Melvin, Kondalarao Bankapalli, Patrick D'Silva, P V Shivaprasad
Methylglyoxal (MG) is a key signaling molecule resulting from glycolysis and other metabolic pathways. During abiotic stress, MG levels accumulate to toxic levels in affected cells. However, MG is routinely detoxified through the action of DJ1/PARK7/Hsp31 proteins that are highly conserved across kingdoms and mutations in such genes are associated with neurodegenerative diseases. Here, we report for the first time that, similar to abiotic stresses, MG levels increase during biotic stresses in plants, likely contributing to enhanced susceptibility to a wide range of stresses...
July 2017: Plant Molecular Biology
https://www.readbyqxmd.com/read/28408307/mitochondrial-respiratory-chain-disorganization-in-parkinson-s-disease-relevant-pink1-and-dj1-mutants
#11
Irene Lopez-Fabuel, Lucia Martin-Martin, Monica Resch-Beusher, Garikoitz Azkona, Rosario Sanchez-Pernaute, Juan P Bolaños
Brain mitochondrial complex I (CI) damage is associated with the loss of the dopaminergic neurons of the Substantia Nigra in Parkinson's Disease (PD) patients. However, whether CI inhibition is associated with any alteration of the mitochondrial respiratory chain (MRC) organization in PD patients is unknown. To address this issue, here we analyzed the MRC by blue native gel electrophoresis (BNGE) followed by western blotting, in mitochondria purified from fibroblasts of patients harboring PD-relevant Pink1 mutations...
October 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28340952/lack-of-association-of-mortalin-hspa9-and-other-mitochondria-related-genes-with-risk-of-parkinson-s-and-alzheimer-s-diseases
#12
Sun Ju Chung, Mi-Jung Kim, Ho-Sung Ryu, Juyeon Kim, Young Jin Kim, Kiju Kim, Sooyeoun You, Seong Yoon Kim, Jae-Hong Lee
We investigated the role of mortalin (HSPA9) and its interaction with other mitochondria-related genes (parkin, PINK1, DJ1, and COQ2) as a risk factor for Parkinson's disease (PD) and Alzheimer's disease (AD) in 500 PD, 400 AD, and 500 control subjects. The HSPA9 variants identified by direct sequencing or its interaction with other genes assessed by genetic risk scores did not show a significant association with PD or AD risk. Our findings did not provide a strong evidence for the role of HAPA9 and its interaction with other mitochondria-related genes as a genetic risk factor for PD or AD...
January 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28336262/increased-susceptibility-to-fundus-camera-delivered-light-induced-retinal-degeneration-in-mice-deficient-in-oxidative-stress-response-proteins
#13
Yi Ding, Bogale Aredo, Xin Zhong, Cynthia X Zhao, Rafael L Ufret-Vincenty
Oxidative stress is an important contributor to the pathogenesis of many retinal diseases including age-related macular degeneration and retinal dystrophies. Light-induced retinal degeneration (LIRD) can serve as a model in which to study the response of the retina to stress. Of note, many genetic mutant mice are in a C57BL/6 J background and are thus resistant to the usual LIRD models. We recently developed a new model of fundus camera-delivered light-induced retinal degeneration (FCD-LIRD) which is effective in strains of mice expressing the light-resistant variant of RPE65 (450Met), including C57BL/6 J...
June 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28147334/dj1-at-the-interface-between-neuro-degeneration-and-cancer
#14
EDITORIAL
Johannes Meiser, Alexei Vazquez, Karsten Hiller
No abstract text is available yet for this article.
February 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28124432/detection-of-genomic-rearrangements-from-targeted-resequencing-data-in-parkinson-s-disease-patients
#15
Nino Spataro, Ana Roca-Umbert, Laura Cervera-Carles, Mònica Vallès, Roger Anglada, Javier Pagonabarraga, Berta Pascual-Sedano, Antònia Campolongo, Jaime Kulisevsky, Ferran Casals, Jordi Clarimón, Elena Bosch
BACKGROUND: The analysis of coverage depth in next-generation sequencing data allows the detection of gene dose alterations. We explore the frequency of such structural events in a Spanish cohort of sporadic PD cases. METHODS: Gene dose alterations were detected with the eXome-Hidden Markov Model (XHMM) software from depth of coverage in resequencing data available for 38 Mendelian and other risk PD loci in 394 individuals (249 cases and 145 controls) and subsequently validated by quantitative PCR...
January 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27872751/novel-gene-tmem230-linked-to-parkinson-s-disease
#16
EDITORIAL
Diana A Olszewska, Conor Fearon, Tim Lynch
Mutations in six genes are known to cause Parkinson's disease (PD) (autosomal dominant: alpha-synuclein, LRRK2, VPS35 and autosomal recessive: Parkin, PINK1 and DJ1) and number of other genes are implicated. In a recent article Deng and colleagues studied a large four generation American family of European descent and linked mutations in a novel gene, transmembrane-protein 230 gene (TMEM230) with lewy body confirmed PD. The authors demonstrated that pathogenic TMEM230 variants in primary mouse neurons affected movement of synaptic vesicles suggesting that TMEM230 may slow vesicular transport...
2016: Journal of Clinical Movement Disorders
https://www.readbyqxmd.com/read/27773573/a-caenorhabditis-elegans-model-elucidates-a-conserved-role-for-trpa1-nrf-signaling-in-reactive-%C3%AE-dicarbonyl-detoxification
#17
Jyotiska Chaudhuri, Neelanjan Bose, Jianke Gong, David Hall, Alexander Rifkind, Dipa Bhaumik, T Harshani Peiris, Manish Chamoli, Catherine H Le, Jianfeng Liu, Gordon J Lithgow, Arvind Ramanathan, X Z Shawn Xu, Pankaj Kapahi
Reactive α-dicarbonyls (α-DCs), like methylglyoxal (MGO), accumulate with age and have been implicated in aging and various age-associated pathologies, such as diabetic complications and neurodegenerative disorders like Alzheimer's and Parkinson's diseases. Evolutionarily conserved glyoxalases are responsible for α-DC detoxification; however, their core biochemical regulation has remained unclear. We have established a Caenorhabditis elegans model, based on an impaired glyoxalase (glod-4/GLO1), to broadly study α-DC-related stress...
November 21, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27592010/early-onset-parkinson-s-disease-due-to-dj1-mutations-an-indian-study
#18
Masoom M Abbas, Shyla T Govindappa, Sumedha Sudhaman, B K Thelma, Ramesh C Juyal, Madhuri Behari, Uday B Muthane
INTRODUCTION: Early Onset Parkinson's Disease (EOPD) is genetically heterogeneous. PARK2 mutations are the commonest cause of autosomal recessive EOPD followed by PINK1.DJ1 mutations is rare and there is scarce literature on its phenotype and long term outcome. OBJECTIVES: We undertook a retrospective study to determine the prevalence of DJ1 mutation(s) in an Indian population and describe the clinical features and long term outcome of EOPD patients with these mutations...
April 24, 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27496670/identification-of-a-novel-homozygous-mutation-arg459pro-in-synj1-gene-of-an-indian-family-with-autosomal-recessive-juvenile-parkinsonism
#19
Laxmi Kirola, Madhuri Behari, Chandan Shishir, B K Thelma
BACKGROUND: A novel homozygous missense mutation (c.773G > A, p.Arg258Gln) in Synaptojanin 1 (SYNJ1, 21q22.2) has recently been reported in two Italian and one Iranian consanguineous families with autosomal recessive juvenile Parkinsonism (ARJP). Contribution of this synaptic gene related to Parkinsonism phenotypes in other populations still remains unidentified. METHODS: An ARJP family with two affected siblings characterized by frequent tremor with bradykinesia and rigidity was recruited in this study...
October 2016: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/27455133/mutation-analysis-of-the-parkin-pink1-dj1-and-snca-genes-in-turkish-early-onset-parkinson-s-patients-and-genotype-phenotype-correlations
#20
Sevda Erer, Unal Egeli, Mehmet Zarifoglu, Gulcin Tezcan, Gulsah Cecener, Berrin Tunca, Secil Ak, Elif Demirdogen, Gulay Kenangil, Hakan Kaleagası, Okan Dogu, Esen Saka, Bulent Elibol
OBJECTIVE: Variations in PARK genes (PRKN, PINK1, DJ-1, and SNCA) cause early-onset Parkinson's disease (EOPD) in different populations. In the current study, we aimed to evaluate the frequencies of variations in PARK genes and the effects of these variations on the phenotypes of Turkish EOPD patients. METHODS: All coding regions and exon-intron boundaries of the PRKN, PINK1, DJ-1, and SNCA genes were screened by heteroduplex analysis followed by direct sequencing of the detected variants in 50 Turkish EOPD patients...
September 2016: Clinical Neurology and Neurosurgery
keyword
keyword
112796
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"