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https://www.readbyqxmd.com/read/29662465/the-length-of-snca-rep1-microsatellite-may-influence-cognitive-evolution-in-parkinson-s-disease
#1
Lucia Corrado, Fabiola De Marchi, Sara Tunesi, Gaia Donata Oggioni, Miryam Carecchio, Luca Magistrelli, Silvana Tesei, Giulio Riboldazzi, Alessio Di Fonzo, Clarissa Locci, Ilaria Trezzi, Roberta Zangaglia, Cristina Cereda, Sandra D'Alfonso, Corrado Magnani, Giacomo P Comi, Giorgio Bono, Claudio Pacchetti, Roberto Cantello, Stefano Goldwurm, Cristoforo Comi
Background: Alpha-synuclein is a constituent of Lewy bodies and mutations of its gene cause familial Parkinson's disease (PD). A previous study showed that a variant of the alpha-synuclein gene ( SNCA ), namely the 263 bp allele of Rep1 was associated with faster motor progression in PD. On the contrary, a recent report failed to detect a detrimental effect of Rep1 263 on both motor and cognitive outcomes in PD. Aim of this study was to evaluate the influence of the Rep1 variants on disease progression in PD patients...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29644751/disease-modification-in-parkinson-s-disease-current-approaches-challenges-and-future-considerations
#2
REVIEW
Anthony E Lang, Alberto J Espay
The greatest unmet therapeutic need in Parkinson's disease is the development of treatment that slows the relentless progression of the neurodegenerative process. The concept of "disease modification" encompasses intervention types ranging from those designed to slow the underlying degeneration to treatments directed at regenerating or replacing lost neurons. To date all attempts to develop effective disease-modifying therapy have failed. Many reasons have been proposed for these failures including our rudimentary understanding of disease pathogenesis and the assumption that each targeted mechanisms of disease apply to most patients with the same clinical diagnosis...
April 11, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29624735/cx3cr1-deficiency-exacerbates-alpha-synuclein-a53t-induced-neuroinflammation-and-neurodegeneration-in-a-mouse-model-of-parkinson-s-disease
#3
Sara Castro-Sánchez, Ángel J García-Yagüe, Tresa López-Royo, Maria Casarejos, José Luis Lanciego, Isabel Lastres-Becker
Parkinson's disease (PD) is the second most common neurodegenerative disorder characterized by the degeneration of dopaminergic neurons of the substantia nigra and the accumulation of protein aggregates, called Lewy bodies, where the most abundant is alpha-synuclein (α-SYN). Mutations of the gene that codes for α-SYN (SNCA), such as the A53T mutation, and duplications of the gene generate cases of PD with autosomal dominant inheritance. As a result of the association of inflammation with the neurodegeneration of PD, we analyzed whether overexpression of wild-type α-SYN (α-SYNWT ) or mutated α-SYN (α-SYNA53T ) are involved in the neuronal dopaminergic loss and inflammation process, along with the role of the chemokine fractalkine (CX3CL1) and its receptor (CX3CR1)...
April 6, 2018: Glia
https://www.readbyqxmd.com/read/29579369/genomic-mechanisms-of-fatigue-in-survivors-of-colorectal-cancer
#4
David S Black, Steve W Cole, Georgia Christodoulou, Jane C Figueiredo
BACKGROUND: Many cancer survivors experience fatigue as a nagging symptom lasting years after treatment. To learn of the relevant biological pathways involved in fatigue among cancer survivors, the authors tested for an association between fatigue levels and leukocyte gene expression profiles and determined the specific mediating immune cell types. METHODS: A sample of 89 Hispanic/Latino adults aged 60.5 years, 62% of whom were male, who were diagnosed with colorectal cancer and were 2...
March 26, 2018: Cancer
https://www.readbyqxmd.com/read/29570792/genomics-studies-on-musical-aptitude-music-perception-and-practice
#5
REVIEW
Irma Järvelä
When searching for genetic markers inherited together with musical aptitude, genes affecting inner ear development and brain function were identified. The alpha-synuclein gene (SNCA), located in the most significant linkage region of musical aptitude, was overexpressed when listening and performing music. The GATA-binding protein 2 gene (GATA2) was located in the best associated region of musical aptitude and regulates SNCA in dopaminergic neurons, thus linking DNA- and RNA-based studies of music-related traits together...
March 23, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29547959/modulation-of-%C3%AE-glucocerebrosidase-increases-%C3%AE-synuclein-secretion-and-exosome-release-in-mouse-models-of-parkinson-s-disease
#6
Vassilis E Papadopoulos, Georgia Nikolopoulou, Ivi Antoniadou, Antonia Karachaliou, Giovanna Arianoglou, Evangelia Emmanouilidou, S Pablo Sardi, Leonidas Stefanis, Kostas Vekrellis
Glucocerebrosidase gene (GBA) mutations are the most common genetic contributor to Parkinson's Disease (PD) and are associated with decreased Glucocerebrosidase (GCase) enzymatic activity in PD. PD patients without GBA mutations also exhibit lower levels of GCase activity in the central nervous system (CNS) suggesting a potential contribution of the enzyme activity in disease pathogenesis, possibly by alteration of lysosomal function. α-synuclein, a protein with a central role in PD pathogenesis, has been shown to be secreted partly in association with exosomes...
March 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29508456/autonomic-dysfunction-in-genetic-forms-of-synucleinopathies
#7
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/29505953/multimodal-neuroimaging-and-behavioral-assessment-of-%C3%AE-synuclein-polymorphism-rs356219-in-older-adults
#8
Roxana G Burciu, Rachael D Seidler, Priyank Shukla, Mike A Nalls, Andrew B Singleton, Michael S Okun, David E Vaillancourt
The single-nucleotide polymorphism rs356219 in the α-synuclein (SNCA) gene has been shown to significantly contribute to an earlier age at onset of Parkinson's disease (PD), and regulates SNCA expression in PD brain regions, blood, and plasma. Here, we used multimodal magnetic resonance imaging (MRI) to study healthy adults with and without the rs356219 risk genotype. Motor and cognitive tests were administered, and all participants underwent functional and structural MRI. Imaging analyses included (1) task-based functional MRI; (2) task-based functional connectivity; (3) free-water diffusion MRI of the substantia nigra; (4) voxel-based morphometry; and (5) surface-based morphometry...
February 10, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29502276/mining-the-nucleus-accumbens-proteome-for-novel-targets-of-alcohol-self-administration-in-male-c57bl-6j-mice
#9
Sara Faccidomo, Katarina S Swaim, Briana L Saunders, Taruni S Santanam, Seth M Taylor, Michelle Kim, Grant T Reid, Vallari R Eastman, Clyde W Hodge
RATIONALE: There is a clear need for discovery of effective medications to treat behavioral pathologies associated with alcohol addiction, such as chronic drinking. OBJECTIVE: The goal of this preclinical study was to assess effects of chronic alcohol drinking on the nucleus accumbens (NAcb) proteome to identify and validate novel targets for medications development. MATERIALS AND METHODS: Two-dimensional difference in-gel electrophoresis (2D-DIGE) with matrix-assisted laser desorption ionization tandem time-of-flight (MALDI-TOF/TOF) was used to assess effects of chronic voluntary home-cage (24-h access) alcohol drinking on the NAcb proteome of C57BL/6J mice...
March 3, 2018: Psychopharmacology
https://www.readbyqxmd.com/read/29483518/cardiolipin-exposure-on-the-outer-mitochondrial-membrane-modulates-%C3%AE-synuclein
#10
Tammy Ryan, Vladimir V Bamm, Morgan G Stykel, Carla L Coackley, Kayla M Humphries, Rhiannon Jamieson-Williams, Rajesh Ambasudhan, Dick D Mosser, Stuart A Lipton, George Harauz, Scott D Ryan
Neuronal loss in Parkinson's disease (PD) is associated with aberrant mitochondrial function and impaired proteostasis. Identifying the mechanisms that link these pathologies is critical to furthering our understanding of PD pathogenesis. Using human pluripotent stem cells (hPSCs) that allow comparison of cells expressing mutant SNCA (encoding α-synuclein (α-syn)) with isogenic controls, or SNCA-transgenic mice, we show that SNCA-mutant neurons display fragmented mitochondria and accumulate α-syn deposits that cluster to mitochondrial membranes in response to exposure of cardiolipin on the mitochondrial surface...
February 26, 2018: Nature Communications
https://www.readbyqxmd.com/read/29477894/locomotor-differences-in-mice-expressing-wild-type-human-%C3%AE-synuclein
#11
Genesys Giraldo, Mieu Brooks, Benoit I Giasson, Christopher Janus
Parkinson's disease manifests as a progressive movement disorder with underlying degeneration of dopaminergic neurons in the substantia nigra, consequent depletion of dopamine levels, and the accumulation of Lewy bodies in the brain. Because α-synuclein (α-Syn) protein is the major component of Lewy bodies, mouse models expressing wild-type or mutant SNCA/α-Syn genes provide a useful tool to investigate canonical characteristics of the disease. We evaluated a mouse model (denoted M20) that expresses human wild-type SNCA gene...
February 6, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29474924/neuroprotective-effect-of-gold-nanoparticles-composites-in-parkinson-s-disease-model
#12
Kaikai Hu, Xiaohui Chen, Wuya Chen, Lingkun Zhang, Jian Li, Jialin Ye, Yuxiao Zhang, Li Zhang, Chu-Hua Li, Liang Yin, Yan-Qing Guan
Parkinson's disease (PD) is second most common neurodegenerative disorder worldwide. Although drugs and surgery can relieve the symptoms of PD, these therapies are incapable of fundamentally treating the disease. For PD patients, over-expression of α-synuclein (SNCA) leads to the death of dopaminergic neurons. This process can be prevented by suppressing SNCA over-expression through RNA interference. Here, we successfully synthesized gold nanoparticles (GNP) composites (CTS@GNP-pDNA-NGF) via the combination of electrostatic adsorption and photochemical immobilization, which could load plasmid DNA (pDNA) and target specific cell types...
February 21, 2018: Nanomedicine: Nanotechnology, Biology, and Medicine
https://www.readbyqxmd.com/read/29473656/%C3%AE-synuclein-snca-but-not-dynamin-3-dnm3-influences-age-at-onset-of-leucine-rich-repeat-kinase-2-lrrk2-parkinson-s-disease-in-spain
#13
Rubén Fernández-Santiago, Alicia Garrido, Jon Infante, Isabel González-Aramburu, María Sierra, Manel Fernández, Francesc Valldeoriola, Esteban Muñoz, Yaroslau Compta, María-José Martí, José Ríos, Eduardo Tolosa, Mario Ezquerra
OBJECTIVES: A recent study showed that Arab-Berbers GG homozygous at rs2421947(C/G) in the dynamin 3 gene (DNM3) had 12.5 years earlier age at onset of leucine-rich repeat kinase 2 (LRRK2)-associated Parkinson's disease (PD) (L2PD). We explored whether this variant modulates the L2PD age at onset in Spain. METHODS: We genotyped rs2421947 in 329 participants (210 L2PD patients, 119 L2PD nonmanifesting p.G2019S carriers), and marker rs356219 (A/G) in the α-synuclein gene (SNCA)...
February 23, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29473513/the-role-of-lrrk2-in-neurodegeneration-of-parkinson-disease
#14
Qin Rui, Haibo Ni, Di Li, Rong Gao, Gang Chen
The leucine-rich repeat kinase 2 (LRRK2) gene and α-synuclein gene (SNCA) are the key influence factors of Parkinson's disease (PD). It is reported that dysfunction of LRRK2 may influence the accumulation of α-synuclein and its pathology to alter cellular functions and signaling pathways by the kinase activation of LRRK2. The accumulation of α-synuclein is one of the main stimulants of microglias acitiviton. Microglias are macrophages resided in the brain, and activation of microglials is believed to contribute to neuroinflammation and neuronal death in PD...
February 22, 2018: Current Neuropharmacology
https://www.readbyqxmd.com/read/29466944/risk-variants-of-the-%C3%AE-synuclein-locus-and-rem-sleep-behavior-disorder-in-parkinson-s-disease-a-genetic-association-study
#15
Kari Anne Bjørnarå, Lasse Pihlstrøm, Espen Dietrichs, Mathias Toft
BACKGROUND: Parkinson's disease is a heterogeneous disorder where genetic factors may underlie clinical variability. Rapid eye movement sleep behavior disorder (RBD) is a parasomnia strongly linked to synucleinopathies, including Parkinson's disease. We hypothesized that SNCA variants conferring risk of Parkinson's disease would also predispose to an RBD phenotype. METHODS: We assessed possible RBD (pRBD) status using the RBD screening questionnaire and investigated known susceptibility variants for Parkinson's disease located in the α-synuclein (SNCA) and tau (MAPT) gene loci in 325 Parkinson's disease patients...
February 21, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29438043/selective-cognitive-impairment-and-hyposmia-in-p-a53t-snca-pd-vs-typical-pd
#16
Christos Koros, Maria Stamelou, Athina Simitsi, Ion Beratis, Dimitra Papadimitriou, Nikolaos Papagiannakis, Stella Fragkiadaki, Dionysia Kontaxopoulou, Sokratis G Papageorgiou, Leonidas Stefanis
OBJECTIVE: To evaluate nonmotor symptoms in early SNCA /p.A53T Parkinson disease (PD) (A53T PD) compared to typical PD (tPD). METHODS: The presence of hyposmia, neuropsychiatric, dysautonomic, and sleep disturbances was assessed by standardized questionnaires and validated scales in 18 patients with A53T PD and 18 patients with tPD, matched for age, sex, and disease duration. All patients were enrolled into the Parkinson's Progression Markers Initiative study. RESULTS: The levodopa equivalent daily dose was higher in the A53T PD ( p = 0...
March 6, 2018: Neurology
https://www.readbyqxmd.com/read/29398121/insufficient-evidence-for-pathogenicity-of-snca-his50gln-h50q-in-parkinson-s-disease
#17
Cornelis Blauwendraat, Demis A Kia, Lasse Pihlstrøm, Ziv Gan-Or, Suzanne Lesage, J Raphael Gibbs, Jinhui Ding, Roy N Alcalay, Sharon Hassin-Baer, Alan M Pittman, Janet Brooks, Connor Edsall, Sun Ju Chung, Stefano Goldwurm, Mathias Toft, Claudia Schulte, Dena Hernandez, Andrew B Singleton, Mike A Nalls, Alexis Brice, Sonja W Scholz, Nicholas W Wood
SNCA missense mutations are a rare cause of autosomal dominant Parkinson's disease (PD). To date, 6 missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these 6 mutations in public population databases and PD case-control data sets to determine their true pathogenicity. We found that 1 of the 6 reported SNCA mutations, His50Gln, was consistently identified in large population databases, and no enrichment was evident in PD cases compared to controls. These results suggest that His50Gln is probably not a pathogenic variant...
December 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29372317/the-genetic-architecture-of-mitochondrial-dysfunction-in-parkinson-s-disease
#18
REVIEW
S B Larsen, Z Hanss, R Krüger
Mitochondrial impairment is a well-established pathological pathway implicated in Parkinson's disease (PD). Defects of the complex I of the mitochondrial respiratory chain have been found in post-mortem brains from sporadic PD patients. Furthermore, several disease-related genes are linked to mitochondrial pathways, such as PRKN, PINK1, DJ-1 and HTRA2 and are associated with mitochondrial impairment. This phenotype can be caused by the dysfunction of mitochondrial quality control machinery at different levels: molecular, organellar or cellular...
January 25, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29370097/alternative-splicing-of-alpha-and-beta-synuclein-genes-plays-differential-roles-in-synucleinopathies
#19
REVIEW
Ana Gámez-Valero, Katrin Beyer
The synuclein family is composed of three members, two of which, α- and β-synuclein, play a major role in the development of synucleinopathies, including Parkinson's disease (PD) as most important movement disorder, dementia with Lewy bodies (DLB) as the second most frequent cause of dementia after Alzheimer's disease and multiple system atrophy. Whereas abnormal oligomerization and fibrillation of α-synuclein are now well recognized as initial steps in the development of synucleinopathies, β-synuclein is thought to be a natural α-synuclein anti-aggregant...
January 25, 2018: Genes
https://www.readbyqxmd.com/read/29369502/snca-a-novel-biomarker-for-group-4-medulloblastomas-can-inhibit-tumor-invasion-and-induce-apoptosis
#20
Yong-Xiao Li, Zhen-Wei Yu, Tao Jiang, Li-Wei Shao, Yan Liu, Na Li, Yu-Feng Wu, Chen Zheng, Xiao-Yu Wu, Ming Zhang, Dan-Feng Zheng, Xue-Ling Qi, Min Ding, Jing Zhang, Qing Chang
Medulloblastoma (MB) is the most common malignant brain tumor in childhood. It contains at least four distinct molecular subgroups. The aim of this study is to explore novel diagnostic and potential therapeutic markers within each subgroup of MB, in particular within Group 4, the largest subgroup, to facilitate diagnosis together with gene therapy. Total 106 MB samples were recruited. Tumor subtype was evaluated with the NanoString assay. Several novel tumor related genes were shown to have high subgroup sensitivity and specificity, including PDGFRA, FGFR1 and ALK in the WNT group; CCND1 in the SHH group; as well as α-synuclein (SNCA)in Group 4...
January 25, 2018: Cancer Science
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