keyword
MENU ▼
Read by QxMD icon Read
search

Gaucher's

keyword
https://www.readbyqxmd.com/read/28438699/cryptic-diversity-in-amazonian-frogs-integrative-taxonomy-of-the-genus-anomaloglossus-amphibia-anura-aromobatidae-reveals-a-unique-case-of-diversification-within-the-guiana-shield
#1
Jean-Pierre Vacher, Philippe J R Kok, Miguel T Rodrigues, Jucivaldo Dias Lima, Andy Lorenzini, Quentin Martinez, Manon Fallet, Elodie A Courtois, Michel Blanc, Philippe Gaucher, Maël Dewynter, Rawien Jairam, Paul Ouboter, Christophe Thébaud, Antoine Fouquet
Lack of resolution on species boundaries and distribution can hamper inferences in many fields of biology, notably biogeography and conservation biology. This is particularly true in megadiverse and under-surveyed regions such as Amazonia, where species richness remains vastly underestimated. Recently, integrative approaches using a combination of phenotypic and molecular phylogenetics evidence have proved extremely successful in reducing knowledge gaps, especially in animal groups displaying high levels of cryptic diversity like amphibians...
April 21, 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28430167/induced-pluripotent-stem-cell-modeling-of-gaucher-s-disease-what-have-we-learned
#2
REVIEW
Dino Matias Santos, Gustavo Tiscornia
Gaucher's disease (GD) is the most frequently inherited lysosomal storage disease, presenting both visceral and neurologic symptoms. Mutations in acid β-glucocerebrosidase disrupt the sphingolipid catabolic pathway promoting glucosylceramide (GlcCer) accumulation in lysosomes. Current treatment options are enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). However, neither of these approaches is effective in treating the neurological aspect of the disease. The use of small pharmacological compounds that act as molecular chaperones is a promising approach that is still experimental...
April 21, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28427477/plasma-chitotriosidase-activity-versus-ccl18-level-for-assessing-type-i-gaucher-disease-severity-protocol-for-a-systematic-review-with-meta-analysis-of-individual-participant-data
#3
Tatiana Raskovalova, Patrick B Deegan, Ruby Yang, Elena Pavlova, Jérome Stirnemann, José Labarère, Ari Zimran, Pramod K Mistry, Marc Berger
BACKGROUND: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency in acid beta-glucosidase. GD exhibits a wide clinical spectrum of disease severity with an unpredictable natural course. Plasma chitotriosidase activity and CC chemokine ligand 18 (CCL18) have been exchangeably used for monitoring GD activity and response to enzyme replacement therapy in conjunction with clinical assessment. Yet, a large-scale head-to-head comparison of these two biomarkers is currently lacking...
April 20, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28427157/the-anti-tumor-efficacy-of-3c23k-a-glyco-engineered-humanized-anti-misrii-antibody-in-an-ovarian-cancer-model-is-mainly-mediated-by-engagement-of-immune-effector-cells
#4
Pauline Estupina, Alexandre Fontayne, Jean-Marc Barret, Nathalie Kersual, Olivier Dubreuil, Marion Le Blay, Alexandre Pichard, Marta Jarlier, Martine Pugnière, Maëva Chauvin, Thierry Chardès, Jean-Pierre Pouget, Emmanuel Deshayes, Alexis Rossignol, Toufik Abache, Christophe de Romeuf, Aurélie Terrier, Lucie Verhaeghe, Christine Gaucher, Jean-François Prost, André Pèlegrin, Isabelle Navarro-Teulon
Ovarian cancer is the leading cause of death in women with gynecological cancers and despite recent advances, new and more efficient therapies are crucially needed. Müllerian Inhibiting Substance type II Receptor (MISRII, also named AMHRII) is expressed in most ovarian cancer subtypes and is a novel potential target for ovarian cancer immunotherapy. We previously developed and tested 12G4, the first murine monoclonal antibody (MAb) against human MISRII. Here, we report the humanization, affinity maturation and glyco-engineering steps of 12G4 to generate the Fc-optimized 3C23K MAb, and the evaluation of its in vivo anti-tumor activity...
February 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28402003/bronchoalveolar-lavage-fluid-in-an-infant-with-perinatal-lethal-gaucher-disease
#5
Hiroyuki Adachi, Atsuko Noguchi, Shozo Ota, Tsutomu Takahashi, Hiroshi Nanjo
No abstract text is available yet for this article.
April 12, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28401966/stereodivergent-synthesis-of-right-and-left-handed-iminoxylitol-heterodimers-and-monomers-study-of-their-impact-on-%C3%AE-glucocerebrosidase-activity
#6
Fabien Stauffert, Jenny Serra-Vinardell, Marta Gómez-Grau, Helen Michelakakis, Irene Mavridou, Daniel Grinberg, Lluïsa Vilageliu, Josefina Casas, Anne Bodlenner, Antonio Delgado, Philippe Compain
A library of dimers and heterodimers of both enantiomers of 2-O-alkylated iminoxylitol derivatives has been synthesised and evaluated on β-glucocerebrosidase (GCase), the enzyme responsible for Gaucher disease (GD). Although the objective was to target simultaneously the active site and a secondary binding site of the glucosidase, the (-)-2-iminoxylitol moiety seemed detrimental for imiglucerase inhibition and no significant enhancement was obtained in G202R, N370S and L444P fibroblasts. However, all compounds having at least one (+)-2-O-alkyl iminoxylitol are GCase inhibitors in the nano molar range and are significant GCase activity enhancers in G202R fibroblats, as confirmed by a decrease of glucosylceramide levels and by co-localization studies...
April 12, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28393750/severe-cardiac-involvement-in-gaucher-type-iiic-a-case-report-and-review-of-the-literature
#7
Yılmaz Kör, Mehmet Keskin, Osman Başpınar
Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow. Its different clinical subtypes, according to the presence and severity of neurological symptoms, are as follows: type I, non-neuronopathic (95%); type II, acute neuronopathic; and type III, chronic neuronopathic. Type IIIC is a rare subgroup characterised by cardiovascular involvement as well as eye-movement disorders and late-onset neurological symptoms...
April 10, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28392356/serum-chitotriosidase-enzyme-activity-is-closely-related-to-hba1c-levels-and-the-complications-in-patients-with-diabetes-mellitus-type-2
#8
Emre Turan, Bulent Sozmen, Mine Eltutan, Eser Y Sozmen
AIMS: Chitotriosidase, is a macrophage sourced enzyme which shows high activity during the course of various storage disorders such as Gaucher's Disease. The aforementioned macrophage sourced enzyme, which has a role in basic immune response, is also high in patients with diabetes. This study was designed to determine the chitotriosidase activities in patients with diabetes and the relationship between the complication of diabetes and chitotriosidase activity. MATERIALS METHODS: This study included 76 patients with type2 diabetes mellitus and 76 healthy subjects...
March 31, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28361101/a-molecular-analysis-of-the-gba-gene-in-caucasian-south-africans-with-parkinson-s-disease
#9
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/28358543/dispositional-pathways-to-trust-self-esteem-and-agreeableness-interact-to-predict-trust-and-negative-emotional-disclosure
#10
Megan H McCarthy, Joanne V Wood, John G Holmes
Expressing our innermost thoughts and feelings is critical to the development of intimacy (Reis & Shaver, 1988), but also risks negative evaluation and rejection. Past research suggests that people with high self-esteem are more expressive and self-disclosing because they trust that others care for them and will not reject them (Gaucher et al., 2012). However, feeling good about oneself may not always be enough; disclosure may also depend on how we feel about other people. Drawing on the principles of risk regulation theory (Murray et al...
March 30, 2017: Journal of Personality and Social Psychology
https://www.readbyqxmd.com/read/28358156/selective-synthesis-of-mono-and-bis-butenolide-%C3%AE-aminomethyl-adducts
#11
Arbia Talbi, Aïcha Arfaoui, Talia Bsaibess, Mohamed Lotfi Efrit, Anne Gaucher, Damien Prim, Hédi M Rabet
The selective installation of α-methylamine residues at the butenolide core is described using α-bromomethylene-γ-butenolide and primary as well as secondary amines in methanol at 0 °C. The preparation of mono- and bis-butenolide α-adducts is described. Bis-γ-butenolide adducts as well as mono α-aminomethyl-γ-butenolides can be selectively obtained depending on the nature of the reacting primary amine. In contrast, the use of secondary amines allows two different pathways leading either to the expected amino derivatives or to the formation of a C-O bond...
April 11, 2017: Organic & Biomolecular Chemistry
https://www.readbyqxmd.com/read/28356566/successful-newborn-screening-for-gaucher-disease-using-fluorometric-assay-in-china
#12
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/28353524/massive-mesenteric-lymphadenopathy-causing-protein-losing-enteropathy-in-gaucher-disease-retraction
#13
(no author information available yet)
No abstract text is available yet for this article.
March 28, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28325324/influence-of-fatty-chain-length-and-starch-composition-on-structure-and-properties-of-fully-substituted-fatty-acid-starch-esters
#14
Audrey Vanmarcke, Lise Leroy, Gregory Stoclet, Lucie Duchatel-Crépy, Jean-Marc Lefebvre, Nicolas Joly, Valérie Gaucher
A series of almost fully substituted Fatty Acid Starch Esters (FASEs) has been obtained in a homogeneous LiCl/DMAc medium by grafting octanoyl (C8), lauroyl (C12) and palmitoyl (C16) chlorides onto 3 starch species: Amylo-Maize, Potato and Waxy Maize. Structure-property relationships of FASEs are investigated as a function of both fatty acid chain length and amylose/amylopectin ratio of the starch. The structural study has revealed a layered type organization in which starch chain planes are separated by fatty chains...
May 15, 2017: Carbohydrate Polymers
https://www.readbyqxmd.com/read/28323452/how-to-manage-plant-biomass-originated-from-phytotechnologies-gathering-perceptions-from-end-users
#15
V Bert, S Neu, I Zdanevitch, W Friesl-Hanl, S Collet, R Gaucher, M Puschenreiter, I Müller, J Kumpiene
A questionnaire survey was carried out in 4 European countries to gather end-user's perceptions of using plants from phytotechnologies in combustion and anaerobic digestion (AD). 9 actors of the wood energy sector from France, Germany and Sweden, and 11 AD platform operators from France, Germany and Austria were interviewed. Questions related to installation, input materials, performed analyses, phytostabilization and phytoextraction. Although the majority of respondents did not know phytotechnologies, results suggested that plant biomass from phytomanaged areas could be used in AD and combustion, under certain conditions...
March 21, 2017: International Journal of Phytoremediation
https://www.readbyqxmd.com/read/28319420/modelling-long-term-evolution-of-chitotriosidase-in-non-neuronopathic-gaucher-disease
#16
Cristina Drugan, Tudor C Drugan, Paula Grigorescu-Sido, Ioana Naşcu
Chitotriosidase, an enzyme secreted by activated macrophages, is widely used as a biomarker for therapeutic monitoring and patient follow-up in Gaucher disease (GD), a lysosomal disorder caused by an inherited deficiency of glucocerebrosidase. We analyzed the long-term evolution of chitotriosidase aiming to establish an accurate model that describes the influence of enzyme replacement therapy (ERT) and the impact of several covariates. A total of 55 patients with non-neuronopathic (type 1) GD were followed for almost 17 years (during a maximum of 7...
March 20, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28302345/newborn-screening-for-six-lysosomal-storage-disorders-in-a-cohort-of-mexican-patients-three-year-findings-from-a-screening-program-in-a-closed-mexican-health-system
#17
Juana Inés Navarrete-Martínez, Ana Elena Limón-Rojas, Maria de Jesús Gaytán-García, Jesús Reyna-Figueroa, Guillermo Wakida-Kusunoki, Ma Del Rocío Delgado-Calvillo, Consuelo Cantú-Reyna, Héctor Cruz-Camino, David Eduardo Cervantes-Barragán
OBJECTIVE: To evaluate the results of a lysosomal newborn screening (NBS) program in a cohort of 20,018 Mexican patients over the course of 3years in a closed Mexican Health System (Petróleos Mexicanos [PEMEX] Health Services). STUDY DESIGN: Using dried blood spots (DBS), we performed a multiplex tandem mass spectrometry enzymatic assay for six lysosomal storage disorders (LSDs) including Pompe disease, Fabry disease, Gaucher disease, mucopolysaccharidosis type I (MPS-I), Niemann-Pick type A/B, and Krabbe disease...
March 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28295625/oral-ambroxol-increases-brain-glucocerebrosidase-activity-in-a-nonhuman-primate
#18
Anna Migdalska-Richards, Wai Kin D Ko, Qin Li, Erwan Bezard, Anthony H V Schapira
Mutations in the glucocerebrosidase 1 (GBA1) gene are related to both Parkinson disease (PD) and Gaucher disease (GD). In both cases, the condition is associated with deficiency of glucocerebrosidase (GCase), the enzyme encoded by GBA1. Ambroxol is a small molecule chaperone that has been shown in mice to cross the blood-brain barrier, increase GCase activity and reduce alpha-synuclein protein levels. In this study, we analyze the effect of ambroxol treatment on GCase activity in healthy nonhuman primates. We show that daily administration of ambroxol results in increased brain GCase activity...
March 12, 2017: Synapse
https://www.readbyqxmd.com/read/28286087/minos-insertion-mutant-of-the-drosophila-gba-gene-homologue-showed-abnormal-phenotypes-of-climbing-ability-sleep-and-life-span-with-accumulation-of-hydroxy-glucocerebroside
#19
Haruhisa Kawasaki, Takahiro Suzuki, Kumpei Ito, Tsubasa Takahara, Naoko Goto-Inoue, Mitsutoshi Setou, Kazuki Sakata, Norio Ishida
Gaucher's disease in humans is considered a deficiency of glucocerebrosidase (GlcCerase) that result in the accumulation of its substrate, glucocerebroside (GlcCer). Although mouse models of Gaucher's disease have been reported from several laboratories, these models are limited due to the perinatal lethality of GlcCerase gene. Here, we examined phenotypes of Drosophila melanogaster homologues genes of the human Gaucher's disease gene by using Minos insertion. One of two Minos insertion mutants to unknown function gene (CG31414) accumulates the hydroxy-GlcCer in whole body of Drosophila melanogaster...
May 30, 2017: Gene
https://www.readbyqxmd.com/read/28274788/management-goals-for-type-1-gaucher-disease-an-expert-consensus-document-from-the-european-working-group-on-gaucher-disease
#20
M Biegstraaten, T M Cox, N Belmatoug, M G Berger, T Collin-Histed, S Vom Dahl, M Di Rocco, C Fraga, F Giona, P Giraldo, M Hasanhodzic, D A Hughes, P O Iversen, A I Kiewiet, E Lukina, M Machaczka, T Marinakis, E Mengel, G M Pastores, U Plöckinger, H Rosenbaum, C Serratrice, A Symeonidis, J Szer, J Timmerman, A Tylki-Szymańska, M Weisz Hubshman, D I Zafeiriou, A Zimran, C E M Hollak
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed...
October 24, 2016: Blood Cells, Molecules & Diseases
keyword
keyword
93689
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"