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https://www.readbyqxmd.com/read/27919619/microsatellite-polymorphism-located-immediately-upstream-of-the-phosphatidylinositol-glycan-class-k-gene-pigk-affects-its-expression-which-correlates-with-tyrosinase-activity-in-human-melanocytes
#1
Ken Okamura, Masahiro Hayashi, Yuko Abe, Yuta Araki, Yutaka Hozumi, Tamio Suzuki
BACKGROUND: Glycosylphosphatidylinositol (GPI) acts as a membrane anchor and a post-translational modifier for more than 150 proteins (called GPI-anchored proteins: GPI-APs). However, little study has been done to explore the role of GPI-APs in melanocytes. METHODS: The relationship between the mRNA expression of the genes which play essential roles in GPI anchoring system [phosphatidylinositol glycan, class A, and class K gene (PIGA, PIGK)] and melanogenesis-related genes (MITF, TYRP1, TYRP2, and TYR) as well as DOPA oxidase activities were evaluated in 13 different normal human epidermal melanocytes (NHEMs)...
November 27, 2016: Journal of Dermatological Science
https://www.readbyqxmd.com/read/27916860/novel-pigt-variant-in-two-brothers-expansion-of-the-multiple-congenital-anomalies-hypotonia-seizures-syndrome-3-phenotype
#2
Nadia Skauli, Sean Wallace, Samuel C C Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo
Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs...
November 29, 2016: Genes
https://www.readbyqxmd.com/read/27914146/pregnancy-and-delivery-in-a-generalized-dystonia-patient-treated-with-internal-globus-pallidal-deep-brain-stimulation-a-case-report
#3
Hye Ran Park, Jae Meen Lee, Hyeyoung Park, Chae Won Shin, Han Joon Kim, Hee Pyoung Park, Dong Gyu Kim, Beom Seok Jeon, Sun Ha Paek
Internal globus pallidus (GPi) deep brain stimulation (DBS) has been widely accepted as an effective treatment modality of medically refractory dystonia. However, there have been few studies regarding the safety issue of pregnancy and childbirth related with DBS. This report describes a female patient who was pregnant and delivered a baby after GPi DBS surgery. A 33-year-old female patient with acquired generalized dystonia underwent bilateral GPi DBS implantation. She obtained considerable improvement in both movement and disability after DBS implantation...
January 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/27903532/acquired-somatic-mutations-in-pnh-reveal-long-term-maintenance-of-adaptive-nk-cells-independent-from-hspc
#4
Marcus A F Corat, Heinrich Schlums, Chuanfeng Wu, Jakob Theorell, Diego A Espinoza, Stephanie E Sellers, Danielle M Townsley, Neal S Young, Yenan T Bryceson, Cynthia E Dunbar, Thomas Winkler
Natural killer (NK) cells have long been considered short-lived effectors of innate immunity. However, recent animal models and human studies suggest that subsets of NK cells have adaptive features. We investigate clonal relationships of various NK cell subsets, including the adaptive population, by taking advantage of naturally occurring X-linked somatic PIGA mutations in hematopoietic stem and progenitor cells (HSPC) from patients with paroxysmal nocturnal hemoglobinuria (PNH). The affected HSPCs and their progeny lack expression of glycosylphosphatidylinositol (GPI) anchors on their cell surfaces, allowing quantification of PIGA-mutant (GPI-negative) HSPC-derived peripheral blood cell populations...
November 30, 2016: Blood
https://www.readbyqxmd.com/read/27902833/evaluation-of-ischemic-and-bleeding-risks-associated-with-2-parenteral-antiplatelet-strategies-comparing-cangrelor-with-glycoprotein-iib-iiia-inhibitors-an-exploratory-analysis-from-the-champion-trials
#5
Muthiah Vaduganathan, Robert A Harrington, Gregg W Stone, Efthymios N Deliargyris, Ph Gabriel Steg, C Michael Gibson, Christian W Hamm, Matthew J Price, Alberto Menozzi, Jayne Prats, Steven Elkin, Kenneth W Mahaffey, Harvey D White, Deepak L Bhatt
Importance: In the context of contemporary pharmacotherapy, optimal antiplatelet management with percutaneous coronary intervention (PCI) has not been well established. Objective: To compare the ischemic and bleeding risks associated with glycoprotein IIb/IIIa inhibitors (GPIs) and a potent P2Y12 antagonist, cangrelor, in patients undergoing PCI. Design, Setting, and Participants: An exploratory analysis of pooled patient-level data from the 3 phase 3 Cangrelor vs Standard Therapy to Achieve Optimal Management of Platelet Inhibition (CHAMPION PCI, CHAMPION PLATFORM, and CHAMPION PHOENIX) trials of patients undergoing elective or nonelective PCI...
November 30, 2016: JAMA Cardiology
https://www.readbyqxmd.com/read/27902399/truncation-of-the-enzootic-nasal-tumor-virus-envelope-protein-cytoplasmic-tail-increases-env-mediated-fusion-and-infectivity
#6
Scott R Walsh, Jondavid G de Jong, Jacob P van Vloten, María Carla Rosales Gerpe, Lisa A Santry, Sarah K Wootton
Enzootic nasal tumor virus (ENTV) and Jaagsiekte sheep retrovirus (JSRV) are highly related ovine betaretroviruses that induce nasal and lung tumors in small ruminants, respectively. While the ENTV and JSRV envelope (Env) glycoproteins mediate virus entry using the same cellular receptor, the GPI-linked protein hyaluronoglucosaminidase, ENTV Env pseudovirions mediate entry into cells from a much more restricted range of species than do JSRV Env pseudovirions. Unlike JSRV Env, ENTV Env does not induce cell fusion at pH 5...
November 11, 2016: Journal of General Virology
https://www.readbyqxmd.com/read/27900841/the-role-of-the-prod1-membrane-anchor-in-newt-limb-regeneration
#7
Kaoru Nomura, Yasushi Tanimoto, Fumio Hayashi, Erisa Harada, Xiao-Yuan Shan, Masafumi Shionyu, Atsushi Hijikata, Tsuyoshi Shirai, Kenichi Morigaki, Keiko Shimamoto
Prod1 is a protein that regulates limb regeneration in salamanders by determining the direction of limb growth. Prod1 is attached to the membrane by a glycosylphosphatidylinositol (GPI) anchor, but the role of membrane anchoring in the limb regeneration process is poorly understood. In this study, we investigated the functional role of the anchoring of Prod1 to the membrane by using its synthetic mimics in combination with solid-state NMR spectroscopy and fluorescent microscopy techniques. Anchoring did not affect the three-dimensional structure of Prod1 but did induce aggregation by aligning the molecules and drastically reducing the molecular motion on the two-dimensional membrane surface...
November 30, 2016: Angewandte Chemie
https://www.readbyqxmd.com/read/27896225/the-urokinase-urokinase-receptor-system-in-mast-cells-effects-of-its-functional-interaction-with-fmlf-receptors
#8
Francesca Wanda Rossi, Nella Prevete, Felice Rivellese, Filomena Napolitano, Nunzia Montuori, Loredana Postiglione, Carmine Selleri, Amato de Paulis
Mast cell and basophils express the high affinity receptor for IgE (FcɛRI) and are primary effector cells of allergic disorders. The urokinase (uPA)-mediated plasminogen activation system is involved in physiological and pathological events based on cell migration and tissue remodelling, such as inflammation, wound healing, angiogenesis and metastasis. uPA is a serine protease that binds uPAR, a high affinity glycosyl-phosphatidyl-inositol (GPI)-anchored receptor. uPAR focuses uPA activity at the cell surface and activates intracellular signaling through lateral interactions with integrins, receptor tyrosine kinases and the G-protein-coupled family of fMLF chemotaxis receptors (FPRs)...
November 2016: Translational Medicine @ UniSa
https://www.readbyqxmd.com/read/27896223/urokinase-type-plasminogen-activator-receptor-upar-as-a-new-therapeutic-target-in-cancer
#9
Nunzia Montuori, Ada Pesapane, Francesca W Rossi, Valentina Giudice, Amato De Paulis, Carmine Selleri, Pia Ragno
The urokinase (uPA)-type plasminogen activator receptor (uPAR) is a GPI-anchored receptor that focuses urokinase (uPA) proteolytic activity on the cell surface. uPAR also regulates cell adhesion, migration and proliferation, protects from apoptosis and contributes to epithelial mesenchymal transition (EMT), independently of uPA enzymatic activity. Indeed, uPAR interacts with beta1, beta2 and beta3 integrins, thus regulating their activities. uPAR cross-talks with receptor tyrosine kinases through integrins and regulates cancer cell dormancy, proliferation and angiogenesis...
November 2016: Translational Medicine @ UniSa
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#10
Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P O'Brien
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement...
November 28, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27881714/a-gpi-processing-phospholipase-a2-pgap6-modulates-nodal-signaling-in-embryos-by-shedding-cripto
#11
Gun-Hee Lee, Morihisa Fujita, Katsuyoshi Takaoka, Yoshiko Murakami, Yoshitaka Fujihara, Noriyuki Kanzawa, Kei-Ichi Murakami, Eriko Kajikawa, Yoko Takada, Kazunobu Saito, Masahito Ikawa, Hiroshi Hamada, Yusuke Maeda, Taroh Kinoshita
Glycosylphosphatidylinositol-anchored proteins (GPI-APs) can be shed from the cell membrane by GPI cleavage. In this study, we report a novel GPI-processing enzyme, termed post-glycosylphosphatidylinositol attachment to proteins 6 (PGAP6), which is a GPI-specific phospholipase A2 mainly localized at the cell surface. CRIPTO, a GPI-AP, which plays critical roles in early embryonic development by acting as a Nodal coreceptor, is a highly sensitive substrate of PGAP6, whereas CRYPTIC, a close homologue of CRIPTO, is not sensitive...
December 5, 2016: Journal of Cell Biology
https://www.readbyqxmd.com/read/27881659/glycosyl-phosphatidylinositol-gpi-anchored-anti-hiv-scfv-efficiently-protect-cd4-t-cells-from-hiv-1-infection-and-deletion-in-hu-pbl-mice
#12
Chaobaihui Ye, Weiming Wang, Liang Cheng, Guangming Li, Michael Wen, Qi Wang, Qing Zhang, Dan Li, Paul Zhou, Lishan Su
: Despite the success in viral inhibition and CD4 T cell recovery by highly active antiretroviral treatment (HAART), HIV-1 is still not curable due to the persistence of HIV-1 reservoir during treatment. One patient with acute myeloid leukemia who received allogeneic hematopoietic stem cell transplantation from homozygous CCR5 Δ32 donor has had no detectable viremia for 9 years after HAART cessation. This case has inspired a field of HIV-1 cure research focusing on engineering HIV-1 resistance of permissive cells...
November 23, 2016: Journal of Virology
https://www.readbyqxmd.com/read/27876666/comparison-of-the-stereotactic-accuracies-of-function-guided-deep-brain-stimulation-calculated-using-multi-track-target-locations-geometrically-inferred-from-three-dimensional-trajectory-rotations-and-of-mri-guided-deep-brain-stimulation-and-outcomes
#13
Seong-Cheol Park, Chong Sik Lee, Seok Min Kim, Eu Jene Choi, Jung Kyo Lee
OBJECTIVE: In previous studies, multi-track trajectories in deep brain stimulation (DBS) have usually been approximated. Using a geometrically more accurate method, we compared the stereotactic accuracy of DBS with multi-track microelectrode recording and awake stimulation (Function-Group), and MRI-guided-DBS (MRI Group). METHODS: One hundred and seventy-two leads used in DBS between April 2014 and January 2016 were evaluated for stereotactic errors. Targets were the subthalamic nucleus (STN, 139 leads) or globus pallidus interna (GPi, 33 leads)...
November 19, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27872839/insight-into-the-exoproteome-of-the-tissue-derived-trypomastigote-form-of-trypanosoma-cruzi
#14
Rayner M L Queiroz, Carlos A O Ricart, Mara O Machado, Izabela M D Bastos, Jaime M de Santana, Marcelo V de Sousa, Peter Roepstorff, Sébastien Charneau
The protozoan parasite Trypanosoma cruzi causes Chagas disease, one of the major neglected infectious diseases. It has the potential to infect any nucleated mammalian cell. The secreted/excreted protein repertoire released by T. cruzi trypomastigotes is crucial in host-pathogen interactions. In this study, mammalian tissue culture-derived trypomastigotes (Y strain) were used to characterize the exoproteome of the infective bloodstream life form. Proteins released into the serum-free culture medium after 3 h of incubation were harvested and digested with trypsin...
2016: Frontiers in Chemistry
https://www.readbyqxmd.com/read/27872247/two-membrane-anchored-aspartic-proteases-contribute-to-pollen-and-ovule-development
#15
Hui Gao, Ying Hui Zhang, Wan-Lei Wang, Ke Ke Zhao, Chun Mei Liu, Lin Bai, Rui Li, Yi Guo
Aspartic proteases are a class of proteolytic enzymes with conserved aspartic acid residues, which are implicated in protein processing, maturation and degradation. Compared to yeast and animals, plants possess a larger aspartic protease family. However, little is known about most of these enzymes. Here, we characterized two Arabidopsis (Arabidopsis thaliana) putative GPI-anchored aspartic protease genes, A36 and A39, which are highly expressed in pollen and pollen tubes. a36 and a36 a39 mutants display significantly reduced pollen activity...
November 21, 2016: Plant Physiology
https://www.readbyqxmd.com/read/27871938/the-role-of-gpi-anchored-axonal-glycoproteins-in-neural-development-and-neurological-disorders
#16
REVIEW
Gianfranco Gennarini, Antonella Bizzoca, Sabrina Picocci, Daniela Puzzo, Patrizia Corsi, Andrew J W Furley
This review article focuses on the Contactin (CNTN) subset of the Immunoglobulin supergene family (IgC2/FNIII molecules), whose components share structural properties (the association of Immunoglobulin type C2 with Fibronectin type III domains), as well as a general role in cell contact formation and axonal growth control. IgC2/FNIII molecules include 6 highly related components (CNTN 1-6), associated with the cell membrane via a Glycosyl Phosphatidyl Inositol (GPI)-containing lipid tail. Contactin 1 and Contactin 2 share ~50 (49...
November 18, 2016: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/27871432/a-novel-mutation-in-pgap2-gene-causes-developmental-delay-intellectual-disability-epilepsy-and-microcephaly-in-consanguineous-saudi-family
#17
Muhammad Imran Naseer, Mahmood Rasool, Mohammed M Jan, Adeel G Chaudhary, Peter Natesan Pushparaj, Adel M Abuzenadah, Mohammad H Al-Qahtani
PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation. Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental delay, intellectual disability, epilepsy and microcephaly...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27863961/glycan-region-of-gpi-anchored-protein-is-required-for-cytocidal-oligomerization-of-an-anticancer-parasporin-2-cry46aa1-protein-from-bacillus-thuringiensis-strain-a1547
#18
Yuich Abe, Hiroshi Inoue, Hisashi Ashida, Yusuke Maeda, Taroh Kinoshita, Sakae Kitada
Parasporin-2 (PS2), alternatively named Cry46Aa1, an anticancer protein derived from Bacillus thuringiensis strain A1547, causes specific cell damage via PS2 oligomerization in the cell membrane. Although PS2 requires glycosylphosphatidylinositol (GPI)-anchored proteins for its cytocidal action, their precise role is unknown. Here, we report that the glycan of GPI induces PS2 oligomerization, which causes cell death. Cytotoxicity, cell-binding and oligomerization of the toxin were not observed in GPI-anchored protein-deficient Chinese hamster ovary cells...
November 15, 2016: Journal of Invertebrate Pathology
https://www.readbyqxmd.com/read/27862612/the-role-of-the-pallidothalamic-fibre-tracts-in-deep-brain-stimulation-for-dystonia-a-diffusion-mri-tractography-study
#19
Verena Eveline Rozanski, Nadia Moreira da Silva, Seyed-Ahmad Ahmadi, Jan Mehrkens, Joao da Silva Cunha, Jean-Christophe Houde, Christian Vollmar, Kai Bötzel, Maxime Descoteaux
BACKGROUND: Deep Brain Stimulation (DBS) of the Globus pallidus internus (GPi) is gold standard treatment in medically refractory dystonia. Recent evidence indicates that stimulation effects are also due to axonal modulation and affection of a fibre network. For the GPi, the pallidothalamic tracts are known to be the major motor efferent pathways. The aim of this study is to explore the anatomic vicinity of these tracts and DBS electrodes in dystonia applying diffusion tractography. METHODS: Diffusion MRI was acquired in ten patients presenting for DBS for dystonia...
November 16, 2016: Human Brain Mapping
https://www.readbyqxmd.com/read/27862284/dystonia-deafness-syndrome-caused-by-a-%C3%AE-actin-gene-mutation-and-response-to-deep-brain-stimulation
#20
Hendriekje Eggink, Martje E van Egmond, Corien C Verschuuren-Bemelmans, Marleen C Schönherr, Tom J de Koning, D L Marinus Oterdoom, J Marc C van Dijk, Marina A J Tijssen
INTRODUCTION: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. OBJECTIVES: To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation. METHODS: We report on disease course, genetic testing, and management of 2 patients, mother and daughter, presenting with dystonia-deafness syndrome...
November 8, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
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