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https://www.readbyqxmd.com/read/29770942/facile-preparation-of-nitrogen-and-sulfur-co-doped-graphene-based-aerogel-for-simultaneous-removal-of-cd-2-and-organic-dyes
#1
Qiaoping Kong, Chaohai Wei, Sergei Preis, Yun Hu, Feng Wang
The need in simultaneous removal of heavy metals and organic compounds dictates the development of synthetic adsorbents with tailor-made properties. A nitrogen (N) and sulfur (S) co-doped graphene-based aerogel (GBA) modified with 2,5-dithiobisurea was synthesized hydrothermally for simultaneous adsorption of Cd2+ and organic dyes-safranin-O (SO), crystal violet (CV), and methylene blue (MB). 2,5-Dithiobisurea was used as nitrogen and sulfur sources to introduce N and S-containing functional group onto graphene oxide...
May 17, 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29735433/glycosphingolipid-levels-and-glucocerebrosidase-activity-are-altered-in-normal-aging-of-the-mouse-brain
#2
Penelope J Hallett, Mylene Huebecker, Oeystein R Brekk, Elizabeth B Moloney, Emily M Rocha, David A Priestman, Frances M Platt, Ole Isacson
Aging is the predominant risk factor for both genetic and sporadic Parkinson's disease (PD). The majority of PD cases are nonfamilial, and the connection between aging and PD-associated genes is not well understood. Haploinsufficiency of the GBA gene, leading to a reduction in glucocerebrosidase (GCase) activity, is one of the most common genetic risk factors for PD. Furthermore, GCase activity is also reduced in brain regions of sporadic PD patients, with a corresponding accumulation of its glycosphingolipid (GSL) substrates...
March 29, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29694510/exploration-of-gene-functions-for-esophageal-squamous-cell-carcinoma-using-network-based-guilt-by-association-principle
#3
Wei Wu, Bo Huang, Yan Yan, Zhi-Qiang Zhong
Gene networks have been broadly used to predict gene functions based on guilt by association (GBA) principle. Thus, in order to better understand the molecular mechanisms of esophageal squamous cell carcinoma (ESCC), our study was designed to use a network-based GBA method to identify the optimal gene functions for ESCC. To identify genomic bio-signatures for ESCC, microarray data of GSE20347 were first downloaded from a public functional genomics data repository of Gene Expression Omnibus database. Then, differentially expressed genes (DEGs) between ESCC patients and controls were identified using the LIMMA method...
2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29691676/-requirements-for-a-cross-location-biobank-it-infrastructure-survey-of-stakeholder-input-on-the-establishment-of-a-biobank-network-of-the-german-biobank-alliance-gba
#4
REVIEW
C Schüttler, N Buschhüter, C Döllinger, L Ebert, M Hummel, J Linde, H-U Prokosch, R Proynova, M Lablans
BACKGROUND: The large number of biobanks within Germany results in a high degree of heterogeneity with regard to the IT components used at the respective locations. Within the German Biobank Alliance (GBA), 13 biobanks implement harmonized processes for the provision of biomaterial and accompanying data. OBJECTIVES: The networking of the individual biobanks and the associated harmonisation of the IT infrastructure should facilitate access to biomaterial and related clinical data...
April 24, 2018: Der Pathologe
https://www.readbyqxmd.com/read/29664615/non-competitive-effect-of-gambogic-acid-displaces-fluorescence-labelled-atp-but-requires-atp-for-binding-to-hsp90-htpg
#5
Qing Yue, Frank Stahl, Oliver Plettenburg, Andreas Kirschning, Athanasia Warnecke, Carsten Zeilinger
The heat shock protein 90 (Hsp90) family plays a critical role in maintaining the homeostasis of the intracellular environment for human and prokaryotic cells. Hsp90 were identified as important target proteins for cancer and plant disease therapies. It was shown that gambogic acid (GBA) has the potential to inhibit human Hsp90. However, it is unknown, whether it is also able to act on the bacterial high temperature protein (HtpG) analogue. In this work, we screened GBA and nine other novel potential Hsp90 inhibitors using a miniaturized high throughput protein microarray-based assay and found that GBA shows an inhibitory effect on different Hsp90s after dissimilarity analysis of the protein sequence alignment...
April 17, 2018: Biochemistry
https://www.readbyqxmd.com/read/29625627/a-pilot-screening-of-high-risk-gaucher-disease-children-using-dried-blood-spot-methods-in-shandong-province-of-china
#6
Ke Lei, Yanxia Zhao, Lirong Sun, Hui Liang, Ronghua Luo, Xiaojing Sun, Yanling Tao, Lijun Chen, Lingling Zhang, Aimin Li, Fu Li, Hongfang Ding
BACKGROUND: The study aim was to verify the feasibility of a diagnostic algorithm with the evaluation of beta glucocerebrosidase (GBA) activity on dried blood spots (DBS) in screening high-risk Gaucher disease (GD) children in China, and to investigate the GD prevalence in this selected population. METHODS: Children were recruited from 20 departments of pediatrics or children's hospitals in Shandong Province, China, due to splenomegaly and/or thrombocytopenia associated with one or more of the following creteria: anemia, history of bone pain, monoclonal gammopathy of unknown significance (MGUS), polyclonal gammopathy and splenectomy...
April 6, 2018: Orphanet Journal of Rare Diseases
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
#7
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/29530815/a-novel-p-l216i-mutation-in-the-glucocerebrosidase-gene-is-associated-with-parkinson-s-disease-in-han-chinese-patients
#8
Hong Jin, Jing Chen, Kai Li, Jin-Ru Zhang, Chen-Chen Gu, Cheng-Jie Mao, Ya-Ping Yang, Feng Wang, Chun-Feng Liu
OBJECTIVES: Pathogenic mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson's disease (PD), of which L444P and N370S are the most frequently observed in patients with PD. The aim of this study was to systematically explore variations in the coding regions of GBA in Han Chinese patients with PD, as well as to expand the GBA mutation spectrum. MATERIAL AND METHODS: A total of 213 Han Chinese patients with PD and 348 controls were enrolled in the study...
March 9, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29530534/plasma-chitotriosidase-activity-versus-plasma-glucosylsphingosine-in-wide-spectrum-of-gaucher-disease-phenotypes-a-statistical-insight
#9
Anna Tylki-Szymańska, Paulina Szymańska-Rożek, Piotr Hasiński, Agnieszka Ługowska
Deficiency of beta-glucocerebrosidase (GBA) leads to Gaucher disease (GD), an inherited disorder characterised by storage of glucosylceramide (GlcCer) in lysosomes of tissue macrophages. Macrophages activated by accumulated GlcCer secrete chitotriosidase. Plasma chitotriosidase activity is significantly elevated in patients with active GD and has been suggested to indicate total body Gaucher cell load. There are two biomarkers used to assess the severity of GD - chitotriosidase has been measured for over 20 years, and deacylated GlcCer, known as glucosylsphingosine (GlcSph) is thought to be even more adequate, as it is almost a direct storage substrate...
February 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29527153/integrated-genetic-analysis-of-racial-differences-of-common-gba-variants-in-parkinson-s-disease-a-meta-analysis
#10
Yuan Zhang, Li Shu, Qiying Sun, Xun Zhou, Hongxu Pan, Jifeng Guo, Beisha Tang
Background: Numerous studies have indicated that there is a possible relationship between GBA variants and Parkinson's disease (PD), however, most of them focused on a few variants such as L444P, N370S. We performed a comprehensive pooled analysis to clarify the relationship between variations of GBA and the risk of PD in different racial groups. Methods : Standard meta-analysis was conducted, including generating inclusion and exclusion criteria, searching literature, extracting and analyzing data. Results : Fifty studies containing 20,267 PD patients and 24,807 controls were included...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29503608/silencing-of-glucocerebrosidase-gene-in-drosophila-enhances-the-aggregation-of-parkinson-s-disease-associated-%C3%AE-synuclein-mutant-a53t-and-affects-locomotor-activity
#11
Salema B Abul Khair, Nisha R Dhanushkodi, Mustafa T Ardah, Wenfeng Chen, Yufeng Yang, M Emdadul Haque
Background: Mutations in glucocerebrosidase (GBA), a lysosomal enzyme are the most common genetic risk factor for developing Parkinson's disease (PD). We studied how reduced GCase activity affects α-synuclein (α-syn) and its mutants (A30P and A53T) aggregation, neurodegeneration, sleep and locomotor behavior in a fly model of PD. Methods: We developed drosophila with GBA gene knockdown (RNAi) (with reduced GCase activity) that simultaneously expresses either wildtype (WT) or mutants such as A30P or A53T α-syn...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29487000/glucocerebrosidase-gene-variants-are-accumulated-in-idiopathic-rem-sleep-behavior-disorder
#12
Ana Gámez-Valero, Alex Iranzo, Monica Serradell, Dolores Vilas, Joan Santamaria, Carles Gaig, Ramiro Álvarez, Aurelio Ariza, Eduardo Tolosa, Katrin Beyer
INTRODUCTION: Glucocerebrosidase (GBA) gene variants are associated with the development of the Lewy body disorders (LBD) Parkinson disease (PD) and dementia with Lewy bodies (DLB). Idiopathic REM sleep behavior disorder (IRBD) represents prodromal LBD in most instances. We investigated whether GBA variants are overrepresented in IRBD and if their presence shortens the time to conversion to clinically-defined LBD. METHODS: All GBA coding exons from 69 polysomnography-confirmed IRBD patients and 84 matched controls were sequenced by the Sanger method...
May 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29480223/phenotypic-characteristics-in-gba-associated-parkinson-s-disease-a-study-in-a-greek-population
#13
Athina Simitsi, Christos Koros, Marina Moraitou, Nikos Papagiannakis, Roubina Antonellou, Maria Bozi, Efthalia Angelopoulou, Maria Stamelou, Helen Michelakakis, Leonidas Stefanis
We compared phenotypic characteristics in 35 Greek patients with Parkinson's disease (PD), carriers of GBA1 mutations (GBA-PD), with 35 Genetically Unidentified PD patients (GU-PD). We found a previously reported higher prevalence of cognitive impairment and a little appreciated more frequent bilateral onset of the disease in GBA-PD vs GU-PD. As far as the exposure to environmental factors, linked to PD, is concerned, our study hints to the possibility that pesticide exposure may be more common in GBA-PD patients, and possibly act synergistically with the mutation carrier status to trigger the disease...
2018: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/29466709/gastrointestinal-hormones-in-regulation-of-memory
#14
REVIEW
Anwesha Mandal, Kedar S Prabhavalkar, Lokesh K Bhatt
The connection between the gastrointestinal hormones and the brain has been established many years ago. This relation is termed the gut-brain axis (GBA). The GBA is a bidirectional communication which not only regulates gastrointestinal homeostasis but is also linked with higher emotional and cognitive functions. Hypothalamus plays a critical role in the regulation of energy metabolism, nutrient partitioning and control of feeding behaviors. Various gut hormones are released inside the gastrointestinal tract on food intake...
April 2018: Peptides
https://www.readbyqxmd.com/read/29400127/glucocerebrosidase-and-parkinson-disease-molecular-clinical-and-therapeutic-implications
#15
Roberta Balestrino, Anthony H V Schapira
Parkinson disease (PD) is a complex neurodegenerative disease characterised by multiple motor and non-motor symptoms. In the last 20 years, more than 20 genes have been identified as causes of parkinsonism. Following the observation of higher risk of PD in patients affected by Gaucher disease, a lysosomal disorder caused by mutations in the glucocerebrosidase (GBA) gene, it was discovered that mutations in this gene constitute the single largest risk factor for development of idiopathic PD. Patients with PD and GBA mutations are clinically indistinguishable from patients with idiopathic PD, although some characteristics emerge depending on the specific mutation, such as slightly earlier onset...
February 1, 2018: Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry
https://www.readbyqxmd.com/read/29385658/the-role-of-glucocerebrosidase-in-parkinson-disease-pathogenesis
#16
REVIEW
Matthew E Gegg, Anthony H V Schapira
GBA encodes the lysosomal enzyme glucocerebrosidase (GCase), an enzyme involved in sphingolipid metabolism. Mutations in the GBA gene are numerically the most important risk factor for developing Parkinson disease (PD) accounting for at least 5% of all PD cases. Furthermore, loss of GCase activity is found in sporadic PD brains. Lysosomal dysfunction is thought to play a principal role in PD pathogenesis and in particular its effect on the metabolism of α-synuclein. A hallmark of PD is the presence of intraneuronal protein inclusions called Lewy bodies, which are composed mainly of α-synuclein...
January 31, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29378790/features-of-gba-associated-parkinson-s-disease-at-presentation-in-the-uk-tracking-parkinson-s-study
#17
Naveed Malek, Rimona S Weil, Catherine Bresner, Michael A Lawton, Katherine A Grosset, Manuela Tan, Nin Bajaj, Roger A Barker, David J Burn, Thomas Foltynie, John Hardy, Nicholas W Wood, Yoav Ben-Shlomo, Nigel W Williams, Donald G Grosset, Huw R Morris
OBJECTIVES: To examine the influence of the glucocerebrosidase ( GBA ) mutation carrier state on age at onset of Parkinson's disease (PD), the motor phenotype and cognitive function at baseline assessment in a large cohort of UK patients. We also analysed the prevalence of mood and behavioural problems that may confound the assessment of cognitive function. METHODS: We prospectively recruited patients with PD in the Tracking Parkinson's study. We fully sequenced the GBA gene in all recently diagnosed patients (≤3...
January 29, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/29377355/gallbladder-agenesis-in-17-dogs-2006-2016
#18
K Sato, M Sakai, S Hayakawa, Y Sakamoto, Y Kagawa, K Kutara, K Teshima, K Asano, T Watari
BACKGROUND: Gallbladder agenesis (GBA) is extremely rare in dogs. HYPOTHESIS/OBJECTIVES: To describe the history, clinical signs, diagnosis, treatment, and outcomes of dogs with GBA. ANIMALS: Seventeen client-owned dogs with GBA. METHODS: Medical records from 2006 through 2016 were retrospectively reviewed. Dogs were included when GBA was suspected on abdominal ultrasonography and confirmed by gross evaluation. Signalment, clinical signs, clinicopathological data, diagnostic imaging, histopathology, treatment, and outcome were recorded...
January 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29372317/the-genetic-architecture-of-mitochondrial-dysfunction-in-parkinson-s-disease
#19
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/29369793/alpha-galactosidase-a-activity-in-parkinson-s-disease
#20
R N Alcalay, P Wolf, O A Levy, U J Kang, C Waters, S Fahn, B Ford, S H Kuo, N Vanegas, H Shah, C Liong, S Narayan, M W Pauciulo, W C Nichols, Z Gan-Or, G A Rouleau, W K Chung, P Oliva, J Keutzer, K Marder, X K Zhang
Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy range but reduced compared to controls. It is not known whether activities of additional lysosomal enzymes are reduced in dried blood spots in PD. To test whether reduction in lysosomal enzymatic activity in PD is specific to GCase, we measured GCase, acid sphingomyelinase (deficient in Niemann-Pick disease types A and B), alpha galactosidase A (deficient in Fabry), acid alpha-glucosidase (deficient in Pompe) and galactosylceramidase (deficient in Krabbe) enzymatic activities in dried blood spots of PD patients (n = 648) and controls (n = 317) recruited from Columbia University...
April 2018: Neurobiology of Disease
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