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https://www.readbyqxmd.com/read/29036344/comparison-of-the-in-vivo-induction-and-transmission-of-%C3%AE-synuclein-pathology-by-mutant-%C3%AE-synuclein-fibril-seeds-in-transgenic-mice
#1
Nicola J Rutherford, Jess-Karan S Dhillon, Cara J Riffe, Jasie K Howard, Mieu Brooks, Benoit I Giasson
Parkinson's disease is one of many neurodegenerative diseases termed synucleinopathies, neuropathologically defined by inclusions containing aggregated α-synuclein. α-synuclein gene (SNCA) mutations can directly cause autosomal dominant Parkinson's disease. In vitro studies demonstrated that SNCA missense mutations may either enhance or diminish α-synuclein aggregation but cross seeding of mutant and wild-type α-synuclein proteins appear to reduce aggregation efficiency. Here we extended these studies by assessing the effects of seeded α-synuclein aggregation in α-synuclein transgenic mice through intracerebral or peripheral injection of various mutant α-synuclein fibrils...
September 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29033051/genetics-of-restless-legs-syndrome-an-update
#2
REVIEW
Félix J Jiménez-Jiménez, Hortensia Alonso-Navarro, Elena García-Martín, José A G Agúndez
A major role of genetic factors in the risk of developing restless legs syndrome (RLS) is supported by the high frequency of positive family history of RLS in patients affected with this disease, and the higher concordance rates in monozygotic twins compared with dizygotic ones in twin studies. In this review we have focused on those reports describing inheritance patterns of RLS, genetic anticipation, the results of studies performed on positivity of family history of RLS, twin studies, linkage studies in familial RLS, genome-wide association studies (GWAS), exome sequencing studies, and case-control association studies on candidate genes in RLS...
August 31, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29017011/altered-volatile-organic-compounds-profile-in-transgenic-rats-bearing-a53t-mutation-of-human-alpha-synuclein-comparison-with-dopaminergic-and-serotonergic-denervation
#3
John P M Finberg, Yuval Aluf, Yelena Loboda, Morad K Nakhleh, Raneen Jeries, Manal Aboud, Salman Zubedat, Avi Avital, Soliman Khatib, Jacob Vaya, Hossam Haick
Early diagnosis of Parkinson's disease (PD) is of great importance due its progressive phenotype. Neuroprotective drugs could potentially slow down disease progression if used at early stages. Previously, we have reported an altered content of volatile organic compounds (VOCs) in the breath of rats following a 50% reduction in striatal dopamine (DA) content induced by 6-hydroxydopamine. We now report on the difference in the breath-print and content of VOCs between rats with mild and severe lesions of DA neurons, serotonergic neuronal lesions, and transgenic (Tg) rats carrying the PD-producing A53T mutation of the SNCA (alpha-synuclein) gene...
October 10, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28986288/manganese-exposure-linking-down-regulation-of-mirna-7-and-mirna-433-with-%C3%AE-synuclein-overexpression-and-risk-of-idiopathic-parkinson-s-disease
#4
Prashant Tarale, Atul P Daiwile, Saravanadevi Sivanesan, Reinhard Stöger, Amit Bafana, Pravin K Naoghare, Devendra Parmar, Tapan Chakrabarti, Kannan Krishnamurthi
Manganese is an essential trace element however elevated environmental and occupational exposure to this element has been correlated with neurotoxicity symptoms clinically identical to idiopathic Parkinson's disease. In the present study we chronically exposed human neuroblastoma SH-SY5Y cells to manganese (100μM) and carried out expression profiling of miRNAs known to modulate neuronal differentiation and neurodegeneration. The miRNA PCR array results reveal alterations in expression levels of miRNAs, which have previously been associated with the regulation of synaptic transmission and apoptosis...
October 3, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28979294/interpreting-gene-expression-effects-of-disease-associated-variants-a-lesson-from-snca-rs356168
#5
Omolara-Chinue Glenn, Lidia Tagliafierro, Thomas G Beach, Randy L Woltjer, Ornit Chiba-Falek
The SNCA intronic single nucleotide polymorphism (SNP), rs356168, has been associated with Parkinson's disease (PD) in large genome wide association studies (GWAS). Recently, the PD-risk allele, rs356168-G was shown to increase SNCA-mRNA expression using genome edited human induced pluripotent stem cells (iPSC)-derived neurons. In this study, as means of validation, we tested the effect of rs356168 on total SNCA-mRNA levels using brain tissues, temporal and frontal cortex, from healthy control donors. Carriers of the rs356168-G allele demonstrated a borderline significant decrease of SNCA-mRNA levels in temporal brain tissues (p = 0...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28979204/hyposmia-is-associated-with-rbd-for-pd-patients-with-variants-of-snca
#6
Yuanyuan Li, Wenyan Kang, Linyuan Zhang, Liche Zhou, Mengyue Niu, Jun Liu
Objective: Hyposmia may occur simultaneously with REM sleep behavior disorder (RBD) as a specific phenotype in Parkinson's Diseases (PD), of which the disease progression is fast. In the study, we tried to identify whether the genotypic characteristics could participate in the co-occurrence of hyposmia and RBD in PD patients. Methods: 152 PD patients were recruited from the Department of Neurology, Ruijin Hospital affiliated to Shanghai JiaoTong University School of Medicine from 2011 to 2016, with comprehensive clinical assessment performing...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28973645/alpha-synuclein-induces-the-unfolded-protein-response-in-parkinson-s-disease-snca-triplication-ipsc-derived-neurons
#7
Sabrina M Heman-Ackah, Raquel Manzano, Jeroen J M Hoozemans, Wiep Scheper, Rowan Flynn, Wilfried Haerty, Sally A Cowley, Andrew R Bassett, Matthew J A Wood
The recent generation of induced pluripotent stem cells (iPSCs) from a patient with Parkinson's disease (PD) resulting from triplication of the α-synuclein (SNCA) gene locus allows unprecedented opportunities to explore its contribution to the molecular pathogenesis of PD. We used the double-nicking CRISPR/Cas9 system to conduct site-specific mutagenesis of SNCA in these cells, generating an isogenic iPSC line with normalized SNCA gene dosage. Comparative gene expression analysis of neuronal derivatives from these iPSCs revealed an ER stress phenotype, marked by induction of the IRE1α/XBP1 axis of the unfolded protein response (UPR) and culminating in terminal UPR activation...
September 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28970564/influence-of-mismatched-and-bulged-nucleotides-on-snp-preferential-rnase-h-cleavage-of-rna-antisense-gapmer-heteroduplexes
#8
Dorota Magner, Ewa Biala, Jolanta Lisowiec-Wachnicka, Ryszard Kierzek
This study focused on determining design rules for gapmer-type antisense oligonucleotides (ASOs), that can differentiate cleavability of two SNP variants of RNA in the presence of ribonuclease H based on the mismatch type and position in the heteroduplex. We describe the influence of structural motifs formed by several arrangements of multiple mismatches (various types of mismatches and their position within the ASO/target RNA duplex) on RNase H cleavage selectivity of five different SNP types. The targets were mRNA fragments of APP, SCA3, SNCA and SOD1 genes, carrying C-to-G, G-to-C, G-to-A, A-to-G and C-to-U substitutions...
October 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28970181/altered-expression-of-genes-involved-in-programmed-cell-death-in-primary-cultured-rat-cerebellar-granule-cells-acutely-challenged-with-tetrabromobisphenol-a
#9
Jacek Lenart, Elzbieta Zieminska, Dominik Diamandakis, Jerzy W Lazarewicz
In the present study, primary cultures of rat cerebellar granule cells (CGC) and the RT(2) Profiler PCR array were used to examine the effect of acutely applied brominated flame retardant tetrabromobisphenol A (TBBPA) on the expression of 84 genes related to the main modes of programmed cell death. CGC, at the 7th day of culture, were exposed to 10 or 25μM TBBPA for 30min. Then, 3, 6, and 24h later, the viability of the cells was examined by the staining with propidium iodide (PI) or using the calcein/ethidium homodimer (CA/ET) live/dead kit, and RNA was extracted for the evaluation of gene expression by RT-PCR...
September 29, 2017: Neurotoxicology
https://www.readbyqxmd.com/read/28965931/integrated-microarray-analysis-provided-a-new-insight-of-the-pathogenesis-of-parkinson-s-disease
#10
Ping Kong, Ping Lei, Shishuang Zhang, Dai Li, Jing Zhao, Benshu Zhang
BACKGROUND: Parkinson's disease (PD) is the second most common neurodegenerative disease and the exact pathogenic mechanism remains mostly elusive. Our study aims to identify the key differentially expressed genes (DEGs) and up regulators in PD. METHODS: An integrated analysis of microarray studies of PD was performed to identify the DEGs in PD compared to normal control (NC). Based on these DEGs, we performed the functional annotation and transcriptional regulatory network constructions...
September 28, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28955066/absence-of-snca-polymorphisms-in-pakistani-parkinsons-disease-patients
#11
Aneesa Sultan, Muhammad Asad Usmani, Maliha Ghaffar, Johar Ali, Mazhar Badshah, Nafees Ahmad
OBJECTIVE: To elucidate the genetic risk and role of alpha-synuclein gene in the pathogenesis of Parkinson's disease in Pakistani population. METHODS: This case-control study was conducted at Institute of Biomedical and Genetic Engineering (IBGE), Islamabad from May 2013 to May 2016, and comprised patients with Parkinson's disease and their ethnically-matched healthy controls. Allele-specific polymerase chain reaction was used for screening of three pathogenic single nucleotide polymorphisms in alpha-synuclein gene...
October 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28941726/a-role-of-bag3-in-regulating-snca-%C3%AE-synuclein-clearance-via-selective-macroautophagy
#12
Yu-Lan Cao, Ya-Ping Yang, Cheng-Jie Mao, Xiao-Qi Zhang, Chen-Tao Wang, Jing Yang, Dong-Jun Lv, Fen Wang, Li-Fang Hu, Chun-Feng Liu
Many studies reveal that BAG3 plays a critical role in the regulation of protein degradation via macroautophagy. However, it remains unknown whether BAG3 affects the quality control of α-synuclein (SNCA), a Parkinson's disease-related protein. In this study, we demonstrated the increases of BAG3 expression in the ventral midbrain of SNCA(A53T) transgenic mice and also in MG132-treated PC12 cells overexpressing wild-type SNCA (SNCA(WT)-PC12). Moreover, we showed that BAG3 overexpression was sufficient to enhance the autophagy activity while knockdown of Bag3 reduced it in SNCA(WT)-PC12 cells...
September 1, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28934429/gene-expression-analysis-reveals-genes-common-to-cerebral-malaria-and-neurodegenerative-disorders
#13
Sandrine Cabantous, Ogobara Doumbo, Belco Poudiougou, Laurence Louis, Abdoulaye Barry, Aboubacar A Oumar, Abdoualye Traore, Sandrine Marquet, Alain Dessein
Cerebral malaria, a reversible encephalopathy affecting young children, is a medical emergency requiring urgent clinical assessment and treatment. We performed a whole-transcriptomic analysis of blood samples from Malian children with cerebral or uncomplicated malaria. We focused on transcripts from pathways for which dysfunction has been associated with neurodegenerative disorders. We found that SNCA, SIAH2, UBB, HSPA1A, TUBB2A, and PINK1 were upregulated (fold-increases, ≥2.6), whereas UBD and PSMC5 were downregulated (fold-decreases, ≤4...
September 15, 2017: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/28933595/phosphoproteome-based-kinase-activity-profiling-reveals-the-critical-role-of-map2k2-and-plk1-in-neuronal-autophagy
#14
Lei-Lei Chen, Yong-Bo Wang, Ju-Xian Song, Wan-Kun Deng, Jia-Hong Lu, Li-Li Ma, Chuan-Bin Yang, Min Li, Yu Xue
Recent studies have demonstrated that dysregulation of macroautophagy/autophagy may play a central role in the pathogenesis of neurodegenerative disorders, and the induction of autophagy protects against the toxic insults of aggregate-prone proteins by enhancing their clearance. Thus, autophagy has become a promising therapeutic target against neurodegenerative diseases. In this study, quantitative phosphoproteomic profiling together with a computational analysis was performed to delineate the phosphorylation signaling networks regulated by 2 natural neuroprotective autophagy enhancers, corynoxine (Cory) and corynoxine B (Cory B)...
September 21, 2017: Autophagy
https://www.readbyqxmd.com/read/28927576/loss-of-microrna-7-regulation-leads-to-%C3%AE-synuclein-accumulation-and-dopaminergic-neuronal-loss-in%C3%A2-vivo
#15
Kirsty J McMillan, Tracey K Murray, Nora Bengoa-Vergniory, Oscar Cordero-Llana, Jane Cooper, Amy Buckley, Richard Wade-Martins, James B Uney, Michael J O'Neill, Liang F Wong, Maeve A Caldwell
Abnormal alpha-synuclein (α-synuclein) expression and aggregation is a key characteristic of Parkinson's disease (PD). However, the exact mechanism(s) linking α-synuclein to the other central feature of PD, dopaminergic neuron loss, remains unclear. Therefore, improved cell and in vivo models are needed to investigate the role of α-synuclein in dopaminergic neuron loss. MicroRNA-7 (miR-7) regulates α-synuclein expression by binding to the 3' UTR of the Synuclein Alpha Non A4 Component of Amyloid Precursor (SNCA) gene and inhibiting its translation...
October 4, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28927418/a-systematic-review-and-integrative-approach-to-decode-the-common-molecular-link-between-levodopa-response-and-parkinson-s-disease
#16
Debleena Guin, Manish Kumar Mishra, Puneet Talwar, Chitra Rawat, Suman S Kushwaha, Shrikant Kukreti, Ritushree Kukreti
BACKGROUND: PD is a progressive neurodegenerative disorder commonly treated by levodopa. The findings from genetic studies on adverse effects (ADRs) and levodopa efficacy are mostly inconclusive. Here, we aim to identify predictive genetic biomarkers for levodopa response (LR) and determine common molecular link with disease susceptibility. A systematic review for LR was conducted for ADR, and drug efficacy, independently. All included articles were assessed for methodological quality on 14 parameters...
September 19, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28917824/parkinson-s-disease-susceptibility-variants-and-severity-of-lewy-body-pathology
#17
Michael G Heckman, Koji Kasanuki, Nancy N Diehl, Shunsuke Koga, Alexandra Soto, Melissa E Murray, Dennis W Dickson, Owen A Ross
INTRODUCTION: Meta-analyses of genome-wide association studies (GWAS) have established common genetic risk factors for clinical Parkinson's disease (PD); however, associations between these risk factors and quantitative neuropathologic markers of disease severity have not been well-studied. This study evaluated associations of nominated variants from the most recent PD GWAS meta-analysis with Lewy body disease (LBD) subtype (brainstem, transitional, or diffuse) and pathologic burden of LB pathology as measured by LB counts in five cortical regions in a series of LBD cases...
September 11, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28875469/a-panel-of-autoantibodies-against-neural-proteins-as-peripheral-biomarker-for-pesticide-induced-neurotoxicity
#18
Heba Allah Abd El Rahman, Mohamed Salama, Seham A Gad El-Hak, Mona A El-Harouny, Passent ElKafrawy, Mohamed B Abou-Donia
In the present study, we screened the sera of subjects chronically exposed to mixtures of pesticides (composed mainly of organophosphorus compounds (OPs) and others) and developed neurological symptoms for the presence of autoantibodies against cytoskeletal neural proteins. OPs have a well-characterized clinical profile resulting from acute cholinergic crisis. However, some of these compounds cause neuronal degeneration and demyelination known as organophosphorus compound-induced delayed neurotoxicity (OPIDN) and/or organophosphorus compound-induced chronic neurotoxicity (OPICN)...
September 5, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28860381/%C3%AE-2-adrenoreceptor-is-a-regulator-of-the-%C3%AE-synuclein-gene-driving-risk-of-parkinson-s-disease
#19
Shuchi Mittal, Kjetil Bjørnevik, Doo Soon Im, Adrian Flierl, Xianjun Dong, Joseph J Locascio, Kristine M Abo, Elizabeth Long, Ming Jin, Bing Xu, Yang K Xiang, Jean-Christophe Rochet, Anders Engeland, Patrizia Rizzu, Peter Heutink, Tim Bartels, Dennis J Selkoe, Barbara J Caldarone, Marcie A Glicksman, Vikram Khurana, Birgitt Schüle, David S Park, Trond Riise, Clemens R Scherzer
Copy number mutations implicate excess production of α-synuclein as a possibly causative factor in Parkinson's disease (PD). Using an unbiased screen targeting endogenous gene expression, we discovered that the β2-adrenoreceptor (β2AR) is a regulator of the α-synuclein gene (SNCA). β2AR ligands modulate SNCA transcription through histone 3 lysine 27 acetylation of its promoter and enhancers. Over 11 years of follow-up in 4 million Norwegians, the β2AR agonist salbutamol, a brain-penetrant asthma medication, was associated with reduced risk of developing PD (rate ratio, 0...
September 1, 2017: Science
https://www.readbyqxmd.com/read/28844730/association-between-snca-rs2736990-polymorphism-and-parkinson-s-disease-a-meta-analysis
#20
Jinni Fang, Binghui Hou, Hongxin Liu, Xiaona Zhang, Jing Wang, Chang Zhou, Anmu Xie
Emerging evidence suggests that the SNP rs2736990 of SNCA is a susceptibility factor for idiopathic Parkinson's disease (PD) in different populations, but the studies which examined the association have provided inconsistent results. Therefore, we performed a meta-analysis of some case-control studies to obtain a more exact estimation of there associations. All the relevant studies were extracted from PubMed, Embase, EBSCO, Chineses national knowledge infrastructure, Google Scholar and Wanfang databases (up to February 2017)...
September 29, 2017: Neuroscience Letters
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