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https://www.readbyqxmd.com/read/27905362/-characteristics-of-parkinson-s-disease-course-in-the-heterozygous-carriage-of-mutations-in-the-glucocerebrosidase-a-gene
#1
O A Gan'kina, E E Vasenina, O S Levin, E Yu Fedotova, S N Illarioshkin
Parkinson's disease (PD) is a common neurodegenerative disease. Literature sources indicate the association of PD and mutations in the glucocerebrosidase A (GBA) gene. According to our study, the frequency of the two most common mutations in the GBA gene, N370S and L444P, is 1.85%. Mutation carriers have slower progression of motor symptoms, but are more likely to develop drug-induced motor fluctuations and dyskinesia. In carriers of GBA mutations, the severity of cognitive impairment corresponds to age-matched patients without mutations...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27903029/-lupus-erythematosus-update-2016
#2
Martin Aringer, Reinhard Edmund Voll
Meanwhile, five years have passed since the approval of the anti-BAFF antibody belimumab as a first biological for SLE, but no further SLE drug candidate is even close to approval. There are still no clinical trial data available for the use of new oral anticoagulants in antiphospholipid syndrome. In spite of convincing evidence for the use of mycophenolate mofetil (MMF) in lupus nephritis, the German "Gemeinsame Bundesausschuss" (GBA) has not yet decided on its reimbursement. However, several of the ongoing clinical trials have potential to lead to important advances in SLE treatment in the future...
November 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27881403/irritable-bowel-syndrome-a-gut-microbiota-related-disorder
#3
Yogesh Bhattarai, David A Muniz Pedrogo, Purna C Kashyap
Irritable bowel syndrome (IBS) is one of the most common gastrointestinal (GI) disorders. Despite its prevalence, the pathophysiology of IBS is not well understood though multiple peripheral and central factors are implicated. Recent studies suggest a role for alterations in gut microbiota in IBS. Significant advances in next-generation sequencing technology and bioinformatics, and the declining cost has now allowed us to better investigate the role of gut microbiota in IBS. In the following review, we propose gut microbiota as a unifying factor in the pathophysiology of IBS...
November 23, 2016: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/27872820/nine-year-experience-in-gaucher-disease-diagnosis-at-the-spanish-reference-center-fundaci%C3%A3-n-jim%C3%A3-nez-d%C3%A3-az
#4
N V Ortiz-Cabrera, J Gallego-Merlo, C Vélez-Monsalve, R de Nicolas, S Fontao Mas, C Ayuso, M J Trujillo-Tiebas
BACKGROUND: Fundación Jiménez Díaz (FJD) is a reference center for genetic diagnosis of Gaucher disease (GD) in Spain. Genetic analyses of acid β-glucosidase (GBA) gene using different techniques were performed to search for new mutations, in addition to those previously and most frequently found in the Spanish population. Additionally, the study of the chitotriosidase (CHIT1) gene was used to assess the inflammatory status of patients in the follow-up of enzyme replacement therapy (ERT)...
December 2016: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/27866808/combined-beta-glucosylceramide-and-ambroxol-hydrochloride-in-patients-with-gaucher-related-parkinson-disease-from-clinical-observations-to-drug-development
#5
Yuval Ishay, Ari Zimran, Jeffrey Szer, Tama Dinur, Yaron Ilan, David Arkadir
Both patients with non-neuronopathic Gaucher disease (GD) and heterozygous GBA mutation carrier are at increased risk for Parkinson disease (PD). The risk for PD in these groups does not linearly increase with glucosylceramide (GC) accumulation or with acid β-glucocerebrosidase (GCase) activity. This observation, together with other clinical systemic observations raises the possibility that extra-cellular GC actually has beneficial, anti-inflammatory, properties. Based on this hypothesis, we suggest here that the administration of supplementary oral GC to GBA carriers at risk for PD may slow inflammatory-driven secondary neuronal death...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27865783/the-modulation-of-inflammatory-parameters-brain-derived-neurotrophic-factor-levels-and-global-histone-h4-acetylation-status-in-peripheral-blood-of-patients-with-gaucher-disease-type-1
#6
Alexandre Silva de Mello, Ivy Reichert Vital da Silva, Gustavo Pereira Reinaldo, Gilson Pires Dorneles, Jaqueline Cé, Pedro Dal Lago, Alessandra Peres, Viviane Rostirola Elsner, Janice Carneiro Coelho
OBJECTIVES: Gaucher's disease type 1 (GD1) pathophysiology includes an imbalance on brain-derived neurotrophic factor (BDNF) levels and in the inflammatory system. However, the pathways involved remain poorly understood. The hypothesis of this study is that epigenetic mechanisms might be involved, at least partially, in this phenomenon. DESIGN AND METHODS: This study investigated the BDNF modulation, global histone H4 acetylation and pro- and anti-inflammatory cytokines levels in the peripheral blood of GD1 patients (n=10) when compared with control samples (CS) (n=11)...
November 16, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27865684/clinical-and-molecular-characteristics-of-patients-with-gaucher-disease-in-southern-china
#7
Yuyu Feng, Yonglan Huang, Chengfang Tang, Hao Hu, Xiaoyuan Zhao, Huiying Sheng, Wen Zhang, Minyi Tan, Ting Xie, Jipeng Zheng, Zongcai Liu, Xueying Su, Yongxian Shao, Xiuzhen Li, Jing Cheng, Xiaojian Mao, Li Liu
Gaucher disease (GD) is a common lysosomal storage disorder caused by the deficiency of acid β-glucosidase, due to mutations in the GBA gene. To explore the clinical and molecular characteristics of GD patients from Southern China, GBA gene was analyzed by nest PCR and direct Sanger-sequencing. Novel missense mutations were transiently transfected in COS-7 cells by plasmid system for functional verification. Among the 22 GD patients, 19 patients were classified as type 1 and three as type 2. Over 60% of the type 1 patient had onset before 2years old and about 42% of them died before 3years old...
November 3, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27864364/membrane-recruitment-of-the-non-receptor-protein-giv-girdin-g%C3%AE-interacting-vesicle-associated-protein-girdin-is-sufficient-for-activating-heterotrimeric-g-protein-signaling
#8
Kshitij Parag-Sharma, Anthony Leyme, Vincent DiGiacomo, Arthur Marivin, Stefan Broselid, Mikel Garcia-Marcos
GIV (aka Girdin) is a Guanine nucleotide Exchange Factor (GEF) that activates heterotrimeric G protein signaling downstream of RTKs and integrins, thereby serving as a platform for signaling cascade crosstalk. GIV is recruited to the cytoplasmic tail of receptors upon stimulation, but the mechanism of activation of its G protein regulatory function is not well understood. Here we used assays in humanized yeast models and G protein activity biosensors in mammalian cells to investigate the role of GIV subcellular compartmentalization in regulating its ability to promote G protein signaling...
November 18, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27864021/trio-approach-reveals-higher-risk-of-pd-in-carriers-of-severe-vs-mild-gba-mutations
#9
David Arkadir, Tama Dinur, Stephen Mullin, Atul Mehta, Hagit N Baris, Roy N Alcalay, Ari Zimran
Heterozygote GBA (glucosylceramidase beta) mutations increase the risk of Parkinson's disease (PD). Data based on the measured frequencies of GBA mutated alleles in the healthy population suggest that severe GBA mutations are associated with even higher risk for PD. These data, however, are prone to methodological biases resulting from the rarity of severe mutations and from ethnic-dependent differences in allele frequencies. To overcome these biases, we traced 13 Gaucher disease (GD) patients who were compound heterozygotes for one mild (N370S) and one severe GBA mutation and who reported a parent with PD...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27852774/a-drosophila-model-of-neuronopathic-gaucher-disease-demonstrates-lysosomal-autophagic-defects-and-altered-mtor-signalling-and-is-functionally-rescued-by-rapamycin
#10
Kerri J Kinghorn, Sebastian Grönke, Jorge Iván Castillo-Quan, Nathaniel S Woodling, Li Li, Ernestas Sirka, Matthew Gegg, Kevin Mills, John Hardy, Ivana Bjedov, Linda Partridge
Glucocerebrosidase (GBA1) mutations are associated with Gaucher disease (GD), an autosomal recessive disorder caused by functional deficiency of glucocerebrosidase (GBA), a lysosomal enzyme that hydrolyzes glucosylceramide to ceramide and glucose. Neuronopathic forms of GD can be associated with rapid neurological decline (Type II) or manifest as a chronic form (Type III) with a wide spectrum of neurological signs. Furthermore, there is now a well-established link between GBA1 mutations and Parkinson's disease (PD), with heterozygote mutations in GBA1 considered the commonest genetic defect in PD...
November 16, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27851789/dietary-2-fucosyllactose-enhances-operant-conditioning-and-long-term-potentiation-via-gut-brain-communication-through-the-vagus-nerve-in-rodents
#11
Enrique Vazquez, Alejandro Barranco, Maria Ramirez, Agnes Gruart, Jose M Delgado-Garcia, Maria L Jimenez, Rachael Buck, Ricardo Rueda
2´-fucosyllactose (2´-FL) is an abundant human milk oligosaccharide (HMO) in human milk with diverse biological effects. We recently reported ingested 2´-FL stimulates central nervous system (CNS) function, such as hippocampal long term potentiation (LTP) and learning and memory in rats. Conceivably the effect of 2´-FL on CNS function may be via the gut-brain axis (GBA), specifically the vagus nerve, and L-fucose (Fuc) may play a role. This study had two aims: (1) determine if the effect of ingested 2´-FL on the modulation of CNS function is dependent on the integrity of the molecule; and (2) confirm if oral 2´-FL modified hippocampal LTP and associative learning related skills in rats submitted to bilateral subdiaphragmatic vagotomy...
2016: PloS One
https://www.readbyqxmd.com/read/27836980/proteome-profiling-outperforms-transcriptome-profiling-for-co-expression-based-gene-function-prediction
#12
Jing Wang, Zihao Ma, Steven A Carr, Philipp Mertins, Hui Zhang, Zhen Zhang, Daniel W Chan, Matthew J C Ellis, R Reid Townsend, Richard D Smith, Jason E McDermott, Xian Chen, Amanda G Paulovich, Emily S Boja, Mehdi Mesri, Christopher R Kinsinger, Henry Rodriguez, Karin D Rodland, Daniel C Liebler, Bing Zhang
Co-expression of mRNAs under multiple conditions is commonly used to infer co-functionality of their gene products despite well-known limitations of this "guilt-by-association" (GBA) approach. Recent advancements in mass spectrometry-based proteomic technologies have enabled global expression profiling at the protein level; however, whether proteome profiling data can outperform transcriptome profiling data for co-expression based gene function prediction has not been systematically investigated. Here, we address this question by constructing and analyzing mRNA and protein co-expression networks for three cancer types with matched mRNA and protein profiling data from The Cancer Genome Atlas (TCGA) and the Clinical Proteomic Tumor Analysis Consortium (CPTAC)...
November 11, 2016: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/27825739/use-of-a-multiplex-ligation-dependent-probe-amplification-method-for-the-detection-of-deletions-duplications-in-the-gba1-gene-in-gaucher-disease-patients
#13
Suelen P Basgalupp, Marina Siebert, Filippo Pinto E Vairo, Anisse Marques Chami, Louise Lapagesse de Camargo Pinto, Gerson da S Carvalho, Ida Vanessa D Schwartz
Gaucher disease (GD) is caused by the deficient activity of β-glucocerebrosidase due to pathogenic mutations in the GBA1. This gene has a pseudogene (GBAP) with 96% of sequence homology. Recombination (Rec) events in the GBA1 seem to be facilitated by an increased degree of homology and proximity to the GBAP. The objectives of this study were to validate the P338-X1 GBA kit (MRC-Holland) for Multiplex Ligation-dependent Probe Amplification (MLPA) and to detect larger deletions/duplications present in GBA1 in GD patients from Brazil...
October 20, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27819393/cap%C3%A3-tulo-14-%C3%A2-crise-hipertensiva
#14
Mvb Malachias, Wksb Souza, F L Plavnik, Cis Rodrigues, A A Brandão, Mft Neves, L A Bortolotto, Rjs Franco, C E Poli-de-Figueiredo, Pcbv Jardim, C Amodeo, Ecd Barbosa, V Koch, Mam Gomes, R B Paula, Rms Póvoa, F C Colombo, S Ferreira, R D Miranda, C A Machado, F Nobre, A R Nogueira, D Mion, S Kaiser, Clm Forjaz, F A Almeida, Jfv Martim, N Sass, L F Drager, E Muxfeldt, L C Bodanese, A D Feitosa, D Malta, S Fuchs, M E Magalhães, W Oigman, O Moreira, Amg Pierin, G S Feitosa, Mrfl Bortolotto, Lbnc Magalhães, Acs Silva, J M Ribeiro, Fao Borelli, M Gus, O Passarelli, J Y Toledo, G F Salles, L C Martins, Tsv Jardim, Icb Guimarães, I C Antonello, E Lima, V Matsudo, G V Silva, L S Costa, A Alessi, Lcn Scala, E B Coelho, D Souza, H F Lopes, Mmg Gowdak, A C Cordeiro, M R Torloni, Mrst Klein, P K Nogueira, Lad Lotaif, Gba Rosito, H Moreno
No abstract text is available yet for this article.
September 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27819392/cap%C3%A3-tulo-13-hipertens%C3%A3-o-arterial-resistente
#15
Mvb Malachias, Wksb Souza, F L Plavnik, Cis Rodrigues, A A Brandão, Mft Neves, L A Bortolotto, Rjs Franco, C E Poli-de-Figueiredo, Pcbv Jardim, C Amodeo, Ecd Barbosa, V Koch, Mam Gomes, R B Paula, Rms Póvoa, F C Colombo, S Ferreira, R D Miranda, C A Machado, F Nobre, A R Nogueira, D Mion, S Kaiser, Clm Forjaz, F A Almeida, Jfv Martim, N Sass, L F Drager, E Muxfeldt, L C Bodanese, A D Feitosa, D Malta, S Fuchs, M E Magalhães, W Oigman, O Moreira, Amg Pierin, G S Feitosa, Mrfl Bortolotto, Lbnc Magalhães, Acs Silva, J M Ribeiro, Fao Borelli, M Gus, O Passarelli, J Y Toledo, G F Salles, L C Martins, Tsv Jardim, Icb Guimarães, I C Antonello, E Lima, V Matsudo, G V Silva, L S Costa, A Alessi, Lcn Scala, E B Coelho, D Souza, H F Lopes, Mmg Gowdak, A C Cordeiro, M R Torloni, Mrst Klein, P K Nogueira, Lad Lotaif, Gba Rosito, H Moreno
No abstract text is available yet for this article.
September 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27819391/cap%C3%A3-tulo-12-hipertens%C3%A3-o-arterial-secund%C3%A3-ria
#16
Mvb Malachias, Wksb Souza, F L Plavnik, Cis Rodrigues, A A Brandão, Mft Neves, L A Bortolotto, Rjs Franco, C E Poli-de-Figueiredo, Pcbv Jardim, C Amodeo, Ecd Barbosa, V Koch, Mam Gomes, R B Paula, Rms Póvoa, F C Colombo, S Ferreira, R D Miranda, C A Machado, F Nobre, A R Nogueira, D Mion, S Kaiser, Clm Forjaz, F A Almeida, Jfv Martim, N Sass, L F Drager, E Muxfeldt, L C Bodanese, A D Feitosa, D Malta, S Fuchs, M E Magalhães, W Oigman, O Moreira, Amg Pierin, G S Feitosa, Mrfl Bortolotto, Lbnc Magalhães, Acs Silva, J M Ribeiro, Fao Borelli, M Gus, O Passarelli, J Y Toledo, G F Salles, L C Martins, Tsv Jardim, Icb Guimarães, I C Antonello, E Lima, V Matsudo, G V Silva, L S Costa, A Alessi, Lcn Scala, E B Coelho, D Souza, H F Lopes, Mmg Gowdak, A C Cordeiro, M R Torloni, Mrst Klein, P K Nogueira, Lad Lotaif, Gba Rosito, H Moreno
No abstract text is available yet for this article.
September 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27819390/cap%C3%A3-tulo-11-hipertens%C3%A3-o-arterial-no-idoso
#17
Mvb Malachias, Wksb Souza, F L Plavnik, Cis Rodrigues, A A Brandão, Mft Neves, L A Bortolotto, Rjs Franco, C E Poli-de-Figueiredo, Pcbv Jardim, C Amodeo, Ecd Barbosa, V Koch, Mam Gomes, R B Paula, Rms Póvoa, F C Colombo, S Ferreira, R D Miranda, C A Machado, F Nobre, A R Nogueira, D Mion, S Kaiser, Clm Forjaz, F A Almeida, Jfv Martim, N Sass, L F Drager, E Muxfeldt, L C Bodanese, A D Feitosa, D Malta, S Fuchs, M E Magalhães, W Oigman, O Moreira, Amg Pierin, G S Feitosa, Mrfl Bortolotto, Lbnc Magalhães, Acs Silva, J M Ribeiro, Fao Borelli, M Gus, O Passarelli, J Y Toledo, G F Salles, L C Martins, Tsv Jardim, Icb Guimarães, I C Antonello, E Lima, V Matsudo, G V Silva, L S Costa, A Alessi, Lcn Scala, E B Coelho, D Souza, H F Lopes, Mmg Gowdak, A C Cordeiro, M R Torloni, Mrst Klein, P K Nogueira, Lad Lotaif, Gba Rosito, H Moreno
No abstract text is available yet for this article.
September 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27819389/cap%C3%A3-tulo-10-hipertens%C3%A3-o-na-crian%C3%A3-a-e-no-adolescente
#18
Mvb Malachias, Wksb Souza, F L Plavnik, Cis Rodrigues, A A Brandão, Mft Neves, L A Bortolotto, Rjs Franco, C E Poli-de-Figueiredo, Pcbv Jardim, C Amodeo, Ecd Barbosa, V Koch, Mam Gomes, R B Paula, Rms Póvoa, F C Colombo, S Ferreira, R D Miranda, C A Machado, F Nobre, A R Nogueira, D Mion, S Kaiser, Clm Forjaz, F A Almeida, Jfv Martim, N Sass, L F Drager, E Muxfeldt, L C Bodanese, A D Feitosa, D Malta, S Fuchs, M E Magalhães, W Oigman, O Moreira, Amg Pierin, G S Feitosa, Mrfl Bortolotto, Lbnc Magalhães, Acs Silva, J M Ribeiro, Fao Borelli, M Gus, O Passarelli, J Y Toledo, G F Salles, L C Martins, Tsv Jardim, Icb Guimarães, I C Antonello, E Lima, V Matsudo, G V Silva, L S Costa, A Alessi, Lcn Scala, E B Coelho, D Souza, H F Lopes, Mmg Gowdak, A C Cordeiro, M R Torloni, Mrst Klein, P K Nogueira, Lad Lotaif, Gba Rosito, H Moreno
No abstract text is available yet for this article.
September 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27819388/cap%C3%A3-tulo-9-hipertens%C3%A3-o-arterial-na-gesta%C3%A3-%C3%A3-o
#19
Mvb Malachias, Wksb Souza, F L Plavnik, Cis Rodrigues, A A Brandão, Mft Neves, L A Bortolotto, Rjs Franco, C E Poli-de-Figueiredo, Pcbv Jardim, C Amodeo, Ecd Barbosa, V Koch, Mam Gomes, R B Paula, Rms Póvoa, F C Colombo, S Ferreira, R D Miranda, C A Machado, F Nobre, A R Nogueira, D Mion, S Kaiser, Clm Forjaz, F A Almeida, Jfv Martim, N Sass, L F Drager, E Muxfeldt, L C Bodanese, A D Feitosa, D Malta, S Fuchs, M E Magalhães, W Oigman, O Moreira, Amg Pierin, G S Feitosa, Mrfl Bortolotto, Lbnc Magalhães, Acs Silva, J M Ribeiro, Fao Borelli, M Gus, O Passarelli, J Y Toledo, G F Salles, L C Martins, Tsv Jardim, Icb Guimarães, I C Antonello, E Lima, V Matsudo, G V Silva, L S Costa, A Alessi, Lcn Scala, E B Coelho, D Souza, H F Lopes, Mmg Gowdak, A C Cordeiro, M R Torloni, Mrst Klein, P K Nogueira, Lad Lotaif, Gba Rosito, H Moreno
No abstract text is available yet for this article.
September 2016: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/27819387/cap%C3%A3-tulo-8-hipertens%C3%A3-o-e-condi%C3%A3-%C3%A3%C2%B5es-cl%C3%A3-nicas-associadas
#20
Mvb Malachias, Wksb Souza, F L Plavnik, Cis Rodrigues, A A Brandão, Mft Neves, L A Bortolotto, Rjs Franco, C E Poli-de-Figueiredo, Pcbv Jardim, C Amodeo, Ecd Barbosa, V Koch, Mam Gomes, R B Paula, Rms Póvoa, F C Colombo, S Ferreira, R D Miranda, C A Machado, F Nobre, A R Nogueira, D Mion, S Kaiser, Clm Forjaz, F A Almeida, Jfv Martim, N Sass, L F Drager, E Muxfeldt, L C Bodanese, A D Feitosa, D Malta, S Fuchs, M E Magalhães, W Oigman, O Moreira, Amg Pierin, G S Feitosa, Mrfl Bortolotto, Lbnc Magalhães, Acs Silva, J M Ribeiro, Fao Borelli, M Gus, O Passarelli, J Y Toledo, G F Salles, L C Martins, Tsv Jardim, Icb Guimarães, I C Antonello, E Lima, V Matsudo, G V Silva, L S Costa, A Alessi, Lcn Scala, E B Coelho, D Souza, H F Lopes, Mmg Gowdak, A C Cordeiro, M R Torloni, Mrst Klein, P K Nogueira, Lad Lotaif, Gba Rosito, H Moreno
No abstract text is available yet for this article.
September 2016: Arquivos Brasileiros de Cardiologia
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