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https://www.readbyqxmd.com/read/29342421/the-relation-between-plasma-%C3%AE-synuclein-level-and-clinical-symptoms-or-signs-of-parkinson-s-disease
#1
Michalina Malec-Litwinowicz, Andrzej Plewka, Danuta Plewka, Edyta Bogunia, Michał Morek, Andrzej Szczudlik, Michał Szubiga, Monika Rudzińska-Bar
INTRODUCTION: Parkinson disease (PD) is the common neurodegenerative disease. α-Synuclein (ASN), main aggregating protein in neural cells of CNS in PD, was found in peripheral fluids. Testing ASN in plasma is potential test for diagnose PD, but previous studies are controversial. The aim of this study was to investigate if plasma ASN level may be a valuable biomarker, is the level of plasma ASN concentration different in various motor subtypes of diseases, is there a relation between the level of plasma ASN and the severity of motor symptoms...
November 21, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29325612/genetics-of-parkinson-disease
#2
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/29323027/micrornas-in-parkinson-s-disease-and-emerging-therapeutic-targets
#3
REVIEW
Bridget Martinez, Philip V Peplow
Parkinson's disease (PD) is the second most common age-related neurodegenerative disorder, with the clinical main symptoms caused by a loss of dopaminergic neurons in the substantia nigra, corpus striatum and brain cortex. Over 90% of patients with PD have sporadic PD and occur in people with no known family history of the disorder. Currently there is no cure for PD. Treatment with medications to increase dopamine relieves the symptoms but does not slow down or reverse the damage to neurons in the brain. Increasing evidence points to inflammation as a chief mediator of PD with inflammatory response mechanisms, involving microglia and leukocytes, activated following loss of dopaminergic neurons...
December 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/29310663/%C3%AE-synuclein-accumulation-and-gba-deficiency-due-to-l444p-gba-mutation-contributes-to-mptp-induced-parkinsonism
#4
Seung Pil Yun, Donghoon Kim, Sangjune Kim, SangMin Kim, Senthilkumar S Karuppagounder, Seung-Hwan Kwon, Saebom Lee, Tae-In Kam, Suhyun Lee, Sangwoo Ham, Jae Hong Park, Valina L Dawson, Ted M Dawson, Yunjong Lee, Han Seok Ko
BACKGROUND: Mutations in glucocerebrosidase (GBA) cause Gaucher disease (GD) and increase the risk of developing Parkinson's disease (PD) and Dementia with Lewy Bodies (DLB). Since both genetic and environmental factors contribute to the pathogenesis of sporadic PD, we investigated the susceptibility of nigrostriatal dopamine (DA) neurons in L444P GBA heterozygous knock-in (GBA +/L444P ) mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), a selective dopaminergic mitochondrial neurotoxin...
January 8, 2018: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/29306436/activity-based-probes-for-glycosidases-profiling-and-other-applications
#5
Chi-Lin Kuo, Eline van Meel, Kassiani Kytidou, Wouter Willem Kallemeijn, Martin Witte, Herman Stephen Overkleeft, Marta Elena Artola, Johannes Maria Aerts
Glycosidases mediate the fragmentation of glycoconjugates in the body, including the vital recycling of endogenous molecules. Several inherited diseases in man concern deficiencies in lysosomal glycosidases degrading glycosphingolipids. Prominent is Gaucher disease caused by an impaired lysosomal β-glucosidase (glucocerebrosidase, GBA) and resulting in pathological lysosomal storage of glucosylceramide (glucocerebroside) in tissue macrophages. GBA is a retaining glucosidase with a characteristic glycosyl-enzyme intermediate formed during catalysis...
2018: Methods in Enzymology
https://www.readbyqxmd.com/read/29282330/whole-genome-sequence-analyses-of-brain-imaging-measures-in-the-framingham-study
#6
Chloé Sarnowski, Claudia L Satizabal, Charles DeCarli, Achilleas N Pitsillides, L Adrienne Cupples, Ramachandran S Vasan, James G Wilson, Joshua C Bis, Myriam Fornage, Alexa S Beiser, Anita L DeStefano, Josée Dupuis, Sudha Seshadri
OBJECTIVE: We sought to identify rare variants influencing brain imaging phenotypes in the Framingham Heart Study by performing whole genome sequence association analyses within the Trans-Omics for Precision Medicine Program. METHODS: We performed association analyses of cerebral and hippocampal volumes and white matter hyperintensity (WMH) in up to 2,180 individuals by testing the association of rank-normalized residuals from mixed-effect linear regression models adjusted for sex, age, and total intracranial volume with individual variants while accounting for familial relatedness...
December 27, 2017: Neurology
https://www.readbyqxmd.com/read/29200723/mice-behavioral-phenotype-changes-after-administration-of-anani-symphonia-globulifera-clusiaceae-an-alternative-latin-american-and-african-medicine
#7
Ivana Barbosa Suffredini, Mateus Luís Barradas Paciencia, Ingrit E C Díaz, Sergio Alexandre Frana, Maria Martha Bernardi
Background: Anani, (Symphonia globulifera, Clusiaceae), known as chewstick, is a traditional plant occurring in Africa and in Central and South Americas that is used against parasites and microorganisms. Although its use is popular in some of these countries, there is a lack of information related to its influence over behavioral phenotype (BP). Objective: The objective of this study is to evaluate the influence of the administration of the extract obtained from the aerial organs of Anani (EB1257) to male Balb-c mice over BP...
October 2017: Pharmacognosy Magazine
https://www.readbyqxmd.com/read/29173981/glucocerebrosidase-haploinsufficiency-in-a53t-%C3%AE-synuclein-mice-impacts-disease-onset-and-course
#8
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/29171494/-the-clinical-features-of-parkinson-s-disease-in-patients-with-mutations-and-polymorphic-variants-of-gba-gene
#9
K A Senkevich, I V Miliukhina, M V Beletskaia, E V Gracheva, A V Kudrevatykh, M A Nikolaev, A K Emelyanov, A E Kopytova, A A Timofeeva, A F Yakimovskii, S N Pchelina
BACKGROUND: Mutations in the glucocerebrosidase gene (GBA) increase the risk of Parkinson's disease (PD) by 6-10 times in all populations and are associated with the early-onset of PD, development of cognitive impairment and presence of psychotic disorders. At the same time, polymorphic variants associated with the twofold increase in the risk of PD were also described in the GBA gene. AIM: To estimate the clinical features of PD in patients with mutations and polymorphic variants of the GBA gene...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29167729/emotional-face-recognition-in-children-with-attention-deficit-hyperactivity-disorder-evidence-from-event-related-gamma-oscillation
#10
Mahdiyeh Sarraf Razavi, Mehdi Tehranidoost, Farnaz Ghassemi, Parivash Purabassi, Athena Taymourtash
Introduction: Children with attention-deficit/hyperactivity disorder (ADHD) have some impairment in emotional relationship which can be due to problems in emotional processing. The present study investigated neural correlates of early stages of emotional face processing in this group compared with typically developing children using the Gamma Band Activity (GBA). Methods: A total of 19 children diagnosed with ADHD (Combined type) based on DSM-IV classification were compared with 19 typically developing children matched on age, gender, and IQ...
September 2017: Basic and Clinical Neuroscience
https://www.readbyqxmd.com/read/29140481/excessive-burden-of-lysosomal-storage-disorder-gene-variants-in-parkinson-s-disease
#11
Laurie A Robak, Iris E Jansen, Jeroen van Rooij, André G Uitterlinden, Robert Kraaij, Joseph Jankovic, Peter Heutink, Joshua M Shulman
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also potent risk factors for Parkinson's disease. We examined whether a genetic burden of variants in other lysosomal storage disorder genes is more broadly associated with Parkinson's disease susceptibility. The sequence kernel association test was used to interrogate variant burden among 54 lysosomal storage disorder genes, leveraging whole exome sequencing data from 1156 Parkinson's disease cases and 1679 control subjects. We discovered a significant burden of rare, likely damaging lysosomal storage disorder gene variants in association with Parkinson's disease risk...
November 13, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29133411/specific-inhibition-of-gpcr-independent-g-protein-signaling-by-a-rationally-engineered-protein
#12
Anthony Leyme, Arthur Marivin, Marcin Maziarz, Vincent DiGiacomo, Maria P Papakonstantinou, Prachi P Patel, Juan B Blanco-Canosa, Isha A Walawalkar, Gonzalo Rodriguez-Davila, Isabel Dominguez, Mikel Garcia-Marcos
Activation of heterotrimeric G proteins by cytoplasmic nonreceptor proteins is an alternative to the classical mechanism via G protein-coupled receptors (GPCRs). A subset of nonreceptor G protein activators is characterized by a conserved sequence named the Gα-binding and activating (GBA) motif, which confers guanine nucleotide exchange factor (GEF) activity in vitro and promotes G protein-dependent signaling in cells. GBA proteins have important roles in physiology and disease but remain greatly understudied...
November 28, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29129675/alpha-synuclein-dimerization-in-erythrocytes-of-patients-with-genetic-and-non-genetic-forms-of-parkinson-s-disease
#13
Nikolaos Papagiannakis, Christos Koros, Maria Stamelou, Athina-Maria Simitsi, Matina Maniati, Roubina Antonelou, Dimitra Papadimitriou, Georgia Dermentzaki, Marina Moraitou, Helen Michelakakis, Leonidas Stefanis
BACKGROUND: Variations of α-synuclein levels or species have been reported in Parkinson's Disease (PD). There has been little systematic examination of erythrocytes, a rich source of α-synuclein. METHODS: Erythrocyte membranes were obtained from PD patients (mutation carriers in the α-synuclein gene (A53T-PD) and glucocerebrosidase gene (GBA-PD) (n=18 each), and patients without known mutations (GU-PD, n=56)), and age-/sex-matched controls (n=56). Levels of monomeric and dimeric α-synuclein were assessed using Western immunoblotting...
November 9, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/29124790/neuropathology-of-genetic-synucleinopathies-with-parkinsonism-review-of-the-literature
#14
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/29100779/tandem-mass-spectrometry-assay-of-%C3%AE-glucocerebrosidase-activity-in-dried-blood-spots-eliminates-false-positives-detected-in-fluorescence-assay
#15
Pavlina Wolf, Roy N Alcalay, Christopher Liong, Emmaline Cullen, Michael W Pauciulo, William C Nichols, Ziv Gan-Or, Wendy K Chung, Tina Faulkner, Christopher Bentis, Robert J Pomponio, Xiwen Ma, X Kate Zhang, Joan M Keutzer, Petra Oliva
Deficiency of β-Glucocerebrosidase (GBA) activity causes Gaucher Disease (GD). GD can be diagnosed by measuring GBA activity (Beutler and Kuhl, 1990). In this study, we assayed dried blood spots from a cohort (n=528) enriched for GBA mutation carriers (n=78) and GD patients (n=18) using both the tandem mass spectrometry (MS/MS) and fluorescence assays and their respective synthetic substrates. The MS/MS assay differentiated normal controls, which included GBA mutation carriers, from GD patients with no overlap...
October 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29094781/cognitive-impairment-in-glucocerebrosidase-gba-associated-pd-not-primarily-associated-with-cerebrospinal-fluid-abeta-and-tau-profiles
#16
Stefanie Lerche, Claudia Schulte, Karin Srulijes, Andrea Pilotto, Tim W Rattay, Ann-Kathrin Hauser, Elke Stransky, Christian Deuschle, Ilona Csoti, Ingolf Lachmann, Henrik Zetterberg, Inga Liepelt-Scarfone, Thomas Gasser, Walter Maetzler, Daniela Berg, Kathrin Brockmann
BACKGROUND: A proportion of idiopathic Parkinson's disease patients (PDidiopathic ) with dementia show altered CSF profiles of amyloid β (Aβ) and Tau. PD patients with Glucocerebrosidase (GBA) mutations (PDGBA ) present with even more cognitive decline than seen in PDidiopathic . OBJECTIVE: The objective of this study was to evaluate whether CSF profiles of Aβ and tau are associated with the prominent cognitive impairment in PDGBA . METHODS: CSF levels of Aβ1-42 , t-Tau, p-Tau, and total alpha-synuclein were assessed in 479 participants (50 PDGBA , 308 PDidiopathic , 121 healthy controls)...
November 2, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29092678/spectrum-of-female-commercial-sex-work-in-bangui-central-african-republic
#17
Jean De Dieu Longo, Marcel Mbéko Simaléko, Richard Ngbale, Gérard Grésenguet, Gilles Brücker, Laurent Bélec
Classification of professional and non-professional female sex workers (FSWs) into different categories, never previously reported in the Central African Republic (CAR), may be useful to assess the dynamics of the human immunodeficiency virus (HIV) epidemic, design operational intervention programmes to combat HIV and other sexually transmitted infections (STIs) and to adapt these programmes to the broad spectrum of sexual transactions in the CAR. Our study proposes a socio-behavioural classification of FSWs living in the CAR and engaged in transactional and commercial sex...
December 2017: SAHARA J: Journal of Social Aspects of HIV/AIDS Research Alliance
https://www.readbyqxmd.com/read/29035513/when-heterotrimeric-g-proteins-are-not-activated-by-g-protein-coupled-receptors-structural-insights-and-evolutionary-conservation
#18
Vincent DiGiacomo, Arthur Marivin, Mikel Garcia-Marcos
Heterotrimeric G proteins are signal-transducing switches conserved across eukaryotes. In humans, they work as critical mediators of intercellular communication in the context of virtually any physiological process. While G protein regulation by G protein-coupled receptors (GPCRs) is well-established and has received much attention, it has become recently evident that heterotrimeric G proteins can also be activated by cytoplasmic proteins. However, this alternative mechanism of G protein regulation remains far less studied than GPCR-mediated signaling...
October 16, 2017: Biochemistry
https://www.readbyqxmd.com/read/29029963/genetic-risk-factors-in-finnish-patients-with-parkinson-s-disease
#19
Susanna Ylönen, Ari Siitonen, Michael A Nalls, Pauli Ylikotila, Jaana Autere, Johanna Eerola-Rautio, Raphael Gibbs, Mikko Hiltunen, Pentti J Tienari, Hilkka Soininen, Andrew B Singleton, Kari Majamaa
INTRODUCTION: Variation contributing to the risk of Parkinson's disease (PD) has been identified in several genes and at several loci including GBA, SMPD1, LRRK2, POLG1, CHCHD10 and MAPT, but the frequencies of risk variants seem to vary according to ethnic background. Our aim was to analyze how variation in these genes contributes to PD in the Finnish population. METHODS: The subjects consisted of 527 Finnish patients with early-onset PD, 325 patients with late-onset PD and 403 population controls...
September 29, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29025868/in-situ-visualization-of-glucocerebrosidase-in-human-skin-tissue-zymography-vs-activity-based-probe-labeling
#20
Jeroen van Smeden, Irini M Dijkhoff, Richard W J Helder, Hanin Al-Khakany, Daphne E C Boer, Anne Schreuder, Wouter W Kallemeijn, Samira Absalah, Herman S Overkleeft, Johannes M F G Aerts, Joke A Bouwstra
Epidermal glucocerebrosidase (GBA1), an acid β-glucosidase normally located in lysosomes, converts (glucosyl)ceramides into ceramides, which is crucial to generate an optimal barrier function of the outermost skin layer, the stratum corneum. Here we report on two developed in-situ methods to localize active GBA in human epidermis: i) an optimized zymography method that is less labour intensive and visualizes enzymatic activity with higher resolution than currently reported methods using either substrate 4-methylumbelliferyl-β-D-glucopyranoside or resorufin-β-D-glucopyranoside...
October 12, 2017: Journal of Lipid Research
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