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https://www.readbyqxmd.com/read/28526295/large-scale-exploratory-genetic-analysis-of-cognitive-impairment-in-parkinson-s-disease
#1
Ignacio F Mata, Catherine O Johnson, James B Leverenz, Daniel Weintraub, John Q Trojanowski, Vivianna M Van Deerlin, Beate Ritz, Rebecca Rausch, Stewart A Factor, Cathy Wood-Siverio, Joseph F Quinn, Kathryn A Chung, Amie L Peterson-Hiller, Alberto J Espay, Fredy J Revilla, Johnna Devoto, Dora Yearout, Shu-Ching Hu, Brenna A Cholerton, Thomas J Montine, Karen L Edwards, Cyrus P Zabetian
Cognitive impairment is a common and disabling problem in Parkinson's disease (PD). Identification of genetic variants that influence the presence or severity of cognitive deficits in PD might provide a clearer understanding of the pathophysiology underlying this important nonmotor feature. We genotyped 1105 PD patients from the PD Cognitive Genetics Consortium for 249,336 variants using the NeuroX array. Participants underwent assessments of learning and memory (Hopkins Verbal Learning Test-Revised [HVLT-R]), working memory/executive function (Letter-Number Sequencing and Trail Making Test [TMT] A and B), language processing (semantic and phonemic verbal fluency), visuospatial abilities (Benton Judgment of Line Orientation [JoLO]), and global cognitive function (Montreal Cognitive Assessment)...
April 20, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28516903/molecular-mechanism-of-g%C3%AE-i-activation-by-non-gpcr-proteins-with-a-g%C3%AE-binding-and-activating-motif
#2
Alain Ibáñez de Opakua, Kshitij Parag-Sharma, Vincent DiGiacomo, Nekane Merino, Anthony Leyme, Arthur Marivin, Maider Villate, Lien T Nguyen, Miguel Angel de la Cruz-Morcillo, Juan B Blanco-Canosa, Sekar Ramachandran, George S Baillie, Richard A Cerione, Francisco J Blanco, Mikel Garcia-Marcos
Heterotrimeric G proteins are quintessential signalling switches activated by nucleotide exchange on Gα. Although activation is predominantly carried out by G-protein-coupled receptors (GPCRs), non-receptor guanine-nucleotide exchange factors (GEFs) have emerged as critical signalling molecules and therapeutic targets. Here we characterize the molecular mechanism of G-protein activation by a family of non-receptor GEFs containing a Gα-binding and -activating (GBA) motif. We combine NMR spectroscopy, computational modelling and biochemistry to map changes in Gα caused by binding of GBA proteins with residue-level resolution...
May 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28511254/genetic-forms-of-parkinson-s-disease
#3
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/28506293/case-report-of-unexpected-gastrointestinal-involvement-in-type-1-gaucher-disease-comparison-of-eliglustat-tartrate-treatment-and-enzyme-replacement-therapy
#4
Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo
BACKGROUND: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). CASE PRESENTATION: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both...
May 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28505077/determination-of-genes-related-to-uveitis-by-utilization-of-the-random-walk-with-restart-algorithm-on-a-protein-protein-interaction-network
#5
Shiheng Lu, Yan Yan, Zhen Li, Lei Chen, Jing Yang, Yuhang Zhang, Shaopeng Wang, Lin Liu
Uveitis, defined as inflammation of the uveal tract, may cause blindness in both young and middle-aged people. Approximately 10-15% of blindness in the West is caused by uveitis. Therefore, a comprehensive investigation to determine the disease pathogenesis is urgent, as it will thus be possible to design effective treatments. Identification of the disease genes that cause uveitis is an important requirement to achieve this goal. To begin to answer this question, in this study, a computational method was proposed to identify novel uveitis-related genes...
May 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28485919/stabilization-of-glucocerebrosidase-by-active-site-occupancy
#6
Fredj Ben Bdira, Wouter W Kallemeijn, Saskia V Oussoren, Saskia Scheij, Boris Bleijlevens, Cindy P A A van Roomen, Roelof Ottenhoff, Marielle J F M van Kooten, Marthe T C Walvoort, Martin D Witte, Rolf G Boot, Marcellus Ubbink, Herman S Overkleeft, Johannes M F G Aerts
Glucocerebrosidase (GBA) is a retaining lysosomal β-glucosidase degrading glucosylceramide. Its deficiency results in Gaucher disease (GD). We examined the effects of active site occupancy of GBA on its structural stability. For this we made use of cyclophellitol-derived activity-based probes (ABPs) that bind irreversibly to the catalytic nucleophile E340 and for comparison the potent reversible inhibitor, isofagomine. We demonstrate that cyclophellitol ABPs improve GBA stability in vitro as revealed by thermodynamic measurements (Tm increase by 21 °C) and introduce resistance to tryptic digestion...
May 9, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28472425/prodromal-parkinsonism-and-neurodegenerative-risk-stratification-in-rem-sleep-behaviour-disorder
#7
Thomas R Barber, Michael Lawton, Michal Rolinski, Samuel Evetts, Fahd Baig, Claudio Ruffmann, Aimie Gornall, Johannes C Klein, Christine Lo, Gary Dennis, Oliver Bandmann, Timothy Quinnell, Zenobia Zaiwalla, Yoav Ben-Shlomo, Michele Tm Hu
Objectives.: REM sleep behaviour disorder (RBD) is the most specific marker of prodromal alpha-synucleinopathies. We sought to delineate the baseline clinical characteristics of RBD and evaluate risk stratification models. Methods.: Clinical assessments were performed in 171 RBD, 296 control and 119 untreated Parkinson's (PD) subjects. Putative risk measures were assessed as predictors of prodromal neurodegeneration and Movement Disorders Society (MDS) criteria for prodromal PD were applied...
May 4, 2017: Sleep
https://www.readbyqxmd.com/read/28462006/regenerative-capacity-of-augmented-bone-in-rat-calvarial-guided-bone-augmentation-model
#8
Tatsuya Kubota, Akira Hasuike, Yasumasa Ozawa, Takanobu Yamamoto, Katsuyoshi Tsunori, Yutaka Yamada, Shuichi Sato
PURPOSE: Guided bone regeneration (GBR) is the most widely used technique to regenerate and augment bones. Even though augmented bones (ABs) have been examined histologically in many studies, few studies have been conducted to examine the biological potential of these bones and the healing dynamics following their use. Moreover, whether the bone obtained from the GBR procedure possesses the same functions as the existing autogenous bone is uncertain. In particular, little attention has been paid to the regenerative ability of GBR bone...
April 2017: Journal of Periodontal & Implant Science
https://www.readbyqxmd.com/read/28454565/combined-gwas-and-guilt-by-association-based-prioritization-analysis-identifies-functional-candidate-genes-for-body-size-in-sheep
#9
Antonios Kominakis, Ariadne L Hager-Theodorides, Evangelos Zoidis, Aggeliki Saridaki, George Antonakos, George Tsiamis
BACKGROUND: Body size in sheep is an important indicator of productivity, growth and health as well as of environmental adaptation. It is a composite quantitative trait that has been studied with high-throughput genomic methods, i.e. genome-wide association studies (GWAS) in various mammalian species. Several genomic markers have been associated with body size traits and genes have been identified as causative candidates in humans, dog and cattle. A limited number of related GWAS have been performed in various sheep breeds and have identified genomic regions and candidate genes that partly account for body size variability...
April 28, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28443230/prediction-of-optimal-gene-functions-for-osteosarcoma-using-network-based-guilt-by-association-method-based-on-gene-oncology-and-microarray-profile
#10
Xinrang Chen
In the current study, we planned to predict the optimal gene functions for osteosarcoma (OS) by integrating network-based method with guilt by association (GBA) principle (called as network-based gene function inference approach) based on gene oncology (GO) data and gene expression profile. To begin with, differentially expressed genes (DEGs) were extracted using linear models for microarray data (LIMMA) package. Then, construction of differential co-expression network (DCN) relying on DEGs was implemented, and sub-DCN was identified using Spearman correlation coefficient (SCC)...
June 2017: Journal of Bone Oncology
https://www.readbyqxmd.com/read/28402758/the-graft-bending-angle-can-affect-early-graft-healing-after-anterior-cruciate-ligament-reconstruction-in-vivo-analysis-with-2-years-follow-up
#11
Yasutaka Tashiro, Tom Gale, Vani Sundaram, Kanto Nagai, James J Irrgang, William Anderst, Yasuharu Nakashima, Scott Tashman, Freddie H Fu
BACKGROUND: A high graft bending angle (GBA) after anterior cruciate ligament (ACL) reconstruction has been suggested to cause stress on the graft. Nevertheless, evidence about its effect on graft healing in vivo is limited. HYPOTHESIS: The signal intensity on magnetic resonance imaging (MRI) would be higher in the proximal region of the ACL graft, and higher signals would be correlated to a higher GBA. STUDY DESIGN: Descriptive laboratory study...
April 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28399184/genetic-factors-influencing-frontostriatal-dysfunction-and-the-development-of-dementia-in-parkinson-s-disease
#12
Ismael Huertas, Silvia Jesús, Francisco Javier García-Gómez, José Antonio Lojo, Inmaculada Bernal-Bernal, Marta Bonilla-Toribio, Juan Francisco Martín-Rodriguez, David García-Solís, Pilar Gómez-Garre, Pablo Mir
The dual syndrome hypothesis for cognitive impairment in Parkinson's disease (PD) establishes a dichotomy between a frontrostriatal dopamine-mediated syndrome, which leads to executive deficits, and a posterior cortical syndrome, which leads to dementia. Certain genes have been linked to these syndromes although the exact contribution is still controversial. The study's objective was to investigate the role of APOE, MAPT, COMT, SNCA and GBA genes in the dual syndromes. We genotyped APOE (rs429358 and rs7412), MAPT (rs9468), COMT (rs4680) and SNCA (rs356219) risk polymorphisms and sequenced GBA in a cohort of 298 PD patients...
2017: PloS One
https://www.readbyqxmd.com/read/28396248/age-and-gender-specific-reference-intervals-for-lysosomal-enzymes-in-dried-blood-spot-samples-a-study-in-indian-population
#13
Manjunath Supriya, Tanima De, Rita Christopher
OBJECTIVES: The study aimed to establish age and gender-specific reference values for the activities of lysosomal enzymes (acid α-galactosidase [GLA], acid β-glucocerebrosidase [GBA], acid α-glucosidase [GAA], acid sphingomyelinase [ASM] and galactocerebrosidase [GALC]) in dried blood spots (DBS) of Indian population. DESIGN AND METHODS: A total of 3797 healthy Indian subjects (1456 females and 2341 males) aged from 2days to 60years were selected for the study...
April 7, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28361101/a-molecular-analysis-of-the-gba-gene-in-caucasian-south-africans-with-parkinson-s-disease
#14
Melinda Barkhuizen, David G Anderson, Francois H van der Westhuizen, Anne F Grobler
BACKGROUND: The molecular basis of Parkinson's disease in South African population groups remains elusive. To date, substitutions in the GBA gene are the most common large-effect genetic risk factor for Parkinson's disease. The primary objective of this study was to determine the prevalence of GBA substitutions in South Africans with idiopathic Parkinson's disease. METHODS: Participants were recruited from tertiary hospitals in the Gauteng Province in South Africa...
March 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28357185/microdeletion-of-chromosome-1q21-3-in-fraternal-twins-is-associated-with-mental-retardation-microcephaly-and-epilepsy
#15
Fatma Mujgan Sonmez, Eyyup Uctepe, Dilek Aktas, Mehmet Alikasifoglu
Reported here are twins, both of whom have a 1q21.3 microdeletion and who exhibit key features common to previously reported cases such as microcephaly and developmental delay. However, some clinical findings and deleted genes differed from those in previously reported cases. The karyotype was normal 46, XX for both of the twins. Array comparative genomic hybridization (CGH) identified a 2.6 Mb deletion on chromosome 1q21.3 (chr1: 153,514,121-156,171,335 bp) in case 1 and a 1.6 Mb deletion on chromosome 1q21...
February 2017: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/28356566/successful-newborn-screening-for-gaucher-disease-using-fluorometric-assay-in-china
#16
Lulu Kang, Xia Zhan, Xuefan Gu, Huiwen Zhang
Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can result in multiple organ damage. Enzyme replacement and substrate reduction therapies have improved the potential for early diagnosis and treatment. Determining the true incidence of this rare disease is critical for relevant policy establishment. Newborn screening allows for early diagnosis and an comparatively accurate incidence of GD. A fluorometric method to detect acid β-glucocerebrosidase (GBA) activity on a dried blood spot punch was developed...
March 30, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28343809/in%C3%A2-vivo-analysis-of-dynamic-graft-bending-angle-in-anterior-cruciate-ligament-reconstructed-knees-during-downward-running-and-level-walking-comparison-of-flexible-and-rigid-drills-for-transportal-technique
#17
Yasutaka Tashiro, Vani Sundaram, Eric Thorhauer, Tom Gale, William Anderst, James J Irrgang, Freddie H Fu, Scott Tashman
PURPOSE: To determine the in vivo dynamic graft bending angle (GBA) in anterior cruciate ligament (ACL)-reconstructed knees, correlate the angle to tunnel positions and tunnel widening, and evaluate the effects of 2 femoral tunnel drilling techniques on GBA. METHODS: Patients with an isolated ACL injury undergoing reconstruction from 2011 to 2012 were included. Transportal techniques were used to create femoral tunnels. Tunnel locations were determined by 3-dimensional computed tomography...
March 23, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/28337284/hepatoprotective-effects-of-gentianella-turkestanerum-extracts-on-acute-liver-injury-induced-by-carbon-tetrachloride-in-mice
#18
Jianghua Yang, Dandan Zhu, Bowei Ju, Xiangying Jiang, Junping Hu
Objective: To investigate the contents of secoiridoid compounds (i.e. sweroside, swertiamarin and gentiopicrin) from Gentianella turkestanerum extracts, and the potential effects of G. turkestanerum extracts against carbon tetrachloride (CCl4) induced liver injury in mice. Methods: The contents of swertiamarin, gentiopicroside and sweroside from different G. turkestanerum extracts were determined with high performance liquid chromatography (HPLC). CCl4 was used to induce acute liver injury in mice. The serum aspartate amino transferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), total protein (TP), total bilirubin (TB), superoxide dismutase (SOD), malondialdehyde (MDA), glutathione transferase (GSH) and catalase (CAT) were measured...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28328014/n-guanidino-derivatives-of-1-5-dideoxy-1-5-imino-d-xylitol-are-potent-selective-and-stable-inhibitors-of-%C3%AE-glucocerebrosidase
#19
Alen Sevšek, Luka Šrot, Jakob Rihter, Maša Čelan, Linda Quarles van Ufford, Ed E Moret, Nathaniel I Martin, Roland J Pieters
A series of lipidated guanidino and urea derivatives of 1,5-dideoxy-1,5-imino-d-xylitol were prepared from d-xylose using a concise synthetic protocol. Inhibition assays with a panel of glycosidases revealed that the guanidino analogues display potent inhibition against human recombinant β-glucocerebrosidase with IC50 values in the low nanomolar range. Related urea analogues of 1,5-dideoxy-1,5-imino-d-xylitol were also synthesized and evaluated in the same fashion and found to be selective for β-galactosidase from bovine liver...
April 6, 2017: ChemMedChem
https://www.readbyqxmd.com/read/28294056/prediction-of-the-ebola-virus-infection-related-human-genes-using-protein-protein-interaction-network
#20
HuanHuan Cao, YuHang Zhang, Jia Zhao, Liucun Zhu, Yi Wang, JiaRui Li, Yuanming Feng, Ning Zhang
Ebola hemorrhagic fever (EHF) is caused by Ebola virus (EBOV). It is reported that human could be infected by EBOV with a high fatality rate. However, association factors between EBOV and host still tend to be ambiguous. According to the "guilt by association" (GBA) principle, proteins interacting with each other are very likely to function similarly or the same. Based on this assumption, we tried to obtain EBOV infection-related human genes in a protein-protein interaction network using Dijkstra algorithm...
March 10, 2017: Combinatorial Chemistry & High Throughput Screening
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