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https://www.readbyqxmd.com/read/29233723/the-different-faces-of-the-p-a53t-alpha-synuclein-mutation-a-screening-of-greek-patients-with-parkinsonism-and-or-dementia
#1
Marianthi Breza, Georgios Koutsis, Georgia Karadima, Constantin Potagas, Chrisoula Kartanou, Sokratis G Papageorgiou, George P Paraskevas, Elisabeth Kapaki, Leonidas Stefanis, Marios Panas
BACKGROUND: The p. A53T mutation in the alpha-synuclein (SNCA) gene is a rare cause of autosomal dominant Parkinson's disease (PD). Although generally rare, it is particularly common in the Greek population due to a founder effect. A53T-positive PD patients often develop dementia during disease course and may very rarely present with dementia. METHODS: We screened for the p. A53T SNCA mutation a total of 347 cases of Greek origin with parkinsonism and/or dementia, collected over 15 years at the Neurogenetics Unit, Eginition Hospital, University of Athens...
December 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29228611/proteogenomic-characterization-and-integrative-analysis-of-glioblastoma-multiforme
#2
Ying-Chun Song, Gai-Xia Lu, Hong-Wei Zhang, Xiao-Ming Zhong, Xian-Ling Cong, Shao-Bo Xue, Rui Kong, Dan Li, Zheng-Yan Chang, Xiao-Feng Wang, Yun-Jie Zhang, Ran Sun, Li Chai, Ru-Ting Xie, Ming-Xiang Cai, Ming Sun, Wei-Qing Mao, Hui-Qiong Yang, Yun-Chao Shao, Su-Yun Fan, Ting-Miao Wu, Qing Xia, Zhong-Wei Lv, David A Fu, Yu-Shui Ma
Glioblastoma multiforme (GBM), the most aggressive and lethal primary brain tumor, is characterized by very low life expectancy. Understanding the genomic and proteogenomic characteristics of GBM is essential for devising better therapeutic approaches.Here, we performed proteomic profiling of 8 GBM and paired normal brain tissues. In parallel, comprehensive integrative genomic analysis of GBM was performed in silico using mRNA microarray and sequencing data. Two whole transcript expression profiling cohorts were used - a set of 3 normal brain tissues and 22 glioma tissue samples and a cohort of 5 normal brain tissues and 49 glioma tissue samples...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/29203207/suppression-of-autophagy-in-the-brain-of-transgenic-mice-with-overexpression-of-%C3%B0-53%C3%B0-mutant-%C3%AE-synuclein-as-an-early-event-at-synucleinopathy-progression
#3
Alexander B Pupyshev, Tatiana A Korolenko, Anna A Akopyan, Tamara G Amstislavskaya, Maria A Tikhonova
Transgenic overexpression of α-synuclein is a common model of Parkinson's disease (PD). Accumulation of А53Т-mutant α-synuclein induces three autophagy cell response: the inhibition of autophagy caused by the accumulation of α-synuclein, compensatory activation of macroautophagy in response to inhibition of the CMA, and toxic effects of mutant α-synuclein accompanied by the activation of autophagy. The overall effect of long-term overexpression of mutant α-synuclein in vivo remained unclear. Here we evaluated the activity of autophagy in the frontal cortex, striatum and s...
December 1, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29198173/autophagy-inhibition-promotes-snca-alpha-synuclein-release-and-transfer-via-extracellular-vesicles-with-a-hybrid-autophagosome-exosome-like-phenotype
#4
Georgia Minakaki, Stefanie Menges, Agnes Kittel, Evangelia Emmanouilidou, Iris Schaeffner, Katalin Barkovits, Anna Bergmann, Edward Rockenstein, Anthony Adame, Franz Marxreiter, Brit Mollenhauer, Douglas Galasko, Edit Irén Buzás, Ursula Schlötzer-Schrehardt, Katrin Marcus, Wei Xiang, Dieter Chichung Lie, Kostas Vekrellis, Eliezer Masliah, Jürgen Winkler, Jochen Klucken
The autophagy-lysosome pathway (ALP) regulates intracellular homeostasis of the cytosolic protein SNCA/alpha-synuclein and is impaired in synucleinopathies, including Parkinson disease and dementia with Lewy bodies (DLB). Emerging evidence suggests that ALP influences SNCA release, but the underlying cellular mechanisms are not well understood. Several studies identified SNCA in exosome/extracellular vesicle (EV) fractions. EVs are generated in the multivesicular body compartment and either released upon its fusion with the plasma membrane, or cleared via the ALP...
December 4, 2017: Autophagy
https://www.readbyqxmd.com/read/29180681/subthalamic-nucleus-deep-brain-stimulation-does-not-modify-the-functional-deficits-or-axonopathy-induced-by-nigrostriatal-%C3%AE-synuclein-overexpression
#5
D Luke Fischer, Fredric P Manfredsson, Christopher J Kemp, Allyson Cole-Strauss, Jack W Lipton, Megan F Duffy, Nicole K Polinski, Kathy Steece-Collier, Timothy J Collier, Sara E Gombash, Daniel J Buhlinger, Caryl E Sortwell
Subthalamic nucleus deep brain stimulation (STN DBS) protects dopaminergic neurons of the substantia nigra pars compacta (SNpc) against 6-OHDA and MPTP. We evaluated STN DBS in a parkinsonian model that displays α-synuclein pathology using unilateral, intranigral injections of recombinant adeno-associated virus pseudotype 2/5 to overexpress wildtype human α-synuclein (rAAV2/5 α-syn). A low titer of rAAV2/5 α-syn results in progressive forelimb asymmetry, loss of striatal dopaminergic terminal density and modest loss of SNpc dopamine neurons after eight weeks, corresponding to robust human-Snca expression and no effect on rat-Snca, Th, Bdnf or Trk2...
November 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29173981/glucocerebrosidase-haploinsufficiency-in-a53t-%C3%AE-synuclein-mice-impacts-disease-onset-and-course
#6
Nahid Tayebi, Loukia Parisiadou, Bahafta Berhe, Ashley N Gonzalez, Jenny Serra-Vinardell, Raphael J Tamargo, Emerson Maniwang, Zachary Sorrentino, Hideji Fujiwara, Richard J Grey, Shahzeb Hassan, Yotam N Blech-Hermoni, Chuyu Chen, Ryan McGlinchey, Chrissy Makariou-Pikis, Mieu Brooks, Edward I Ginns, Daniel S Ory, Benoit I Giasson, Ellen Sidransky
Mutations in GBA1 encountered in Gaucher disease are a leading risk factor for Parkinson disease and associated Lewy body disorders. Many GBA1 mutation carriers, especially those with severe or null GBA1 alleles, have earlier and more progressive parkinsonism. To model the effect of partial glucocerebrosidase deficiency on neurological progression in vivo, mice with a human A53T α-synuclein (SNCAA53T) transgene were crossed with heterozygous null gba mice (gba+/-). Survival analysis of 84 mice showed that in gba+/-//SNCAA53T hemizygotes and homozygotes, the symptom onset was significantly earlier than in gba+/+//SNCAA53T mice (p-values 0...
November 21, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29150919/a-focus-on-the-beneficial-effects-of-alpha-synuclein-and-a-re-appraisal-of-synucleinopathies
#7
Larisa Ryskalin, Carla L Busceti, Fiona Limanaqi, Francesca Biagioni, Stefano Gambardella, Francesco Fornai
Alpha synuclein (α-syn) belongs to a class of proteins which are commonly considered to play a detrimental role in neuronal survival. This assumption is based on the occurrence of a severe neuronal degeneration in patients carrying a multiplication of the α-syn gene (SNCA) and in a variety of experimental models, where overexpression of α-syn leads to cell death and neurological impairment. In these conditions, a higher amount of normally structured α-syn produces a damage, which is even worse compared with that produced by α-syn owing an abnormal structure (as occurring following point gene mutations)...
November 16, 2017: Current Protein & Peptide Science
https://www.readbyqxmd.com/read/29149290/discovering-the-3-utr-mediated-regulation-of-alpha-synuclein
#8
Domenica Marchese, Teresa Botta-Orfila, Davide Cirillo, Juan Antonio Rodriguez, Carmen Maria Livi, Rubén Fernández-Santiago, Mario Ezquerra, Maria J Martí, Elias Bechara, Gian Gaetano Tartaglia
Recent evidence indicates a link between Parkinson's Disease (PD) and the expression of a-synuclein (SNCA) isoforms with different 3' untranslated regions (3'UTRs). Yet, the post-transcriptional mechanisms regulating SNCA expression are unknown. Using a large-scale in vitro/in silico screening we identified RNA-binding proteins (RBPs) that interact with SNCA 3' UTRs. We identified two RBPs, ELAVL1 and TIAR, that bind with high affinity to the most abundant and translationally active 3' UTR isoform (575 nt)...
November 15, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29124790/neuropathology-of-genetic-synucleinopathies-with-parkinsonism-review-of-the-literature
#9
REVIEW
Susanne A Schneider, Roy N Alcalay
Clinical-pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3)...
November 2017: Movement Disorders: Official Journal of the Movement Disorder Society
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
#10
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
#11
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-compound-profile-in-transgenic-rats-bearing-a53t-mutation-of-human-%C3%AE-synuclein-comparison-with-dopaminergic-and-serotonergic-denervation
#12
John P M Finberg, Yuval Aluf, Yelena Loboda, Morad K Nakhleh, Raneen Jeries, Manal Abud-Hawa, 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 (α-synuclein) gene...
October 19, 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
#13
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
#14
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
#15
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
#16
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...
November 15, 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
#17
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
#18
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
#19
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
#20
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
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