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https://www.readbyqxmd.com/read/29341391/control-of-protein-activity-and-gene-expression-by-cyclofen-oh-uncaging
#1
Weiting Zhang, Fatima Hamouri, Zhiping Feng, Isabelle Aujard, Bertrand Ducos, Shixin Ye, Shimon Weiss, Michel Volovitch, Sophie Vriz, Ludovic Jullien, David Bensimon
The use of light to control the expression of genes and the activity of proteins is a rapidly expanding field. While many of these approaches use a fusion between a light activable protein and the protein of interest to control the activity of the later, it is also possible to control the activity of a protein by uncaging a specific ligand. In that context, controlling the activation of a protein fused to the modified estrogen receptor (ERT) by uncaging its ligand cyclofen-OH has emerged as a generic and versatile method to control the activation of proteins quantitatively, quickly and locally in a live organism...
January 16, 2018: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/29336994/agreement-between-the-results-of-meta-analyses-from-case-reports-and-from-clinical-studies-regarding-the-efficacy-of-laronidase-therapy-in-patients-with-mucopolysaccharidosis-type-i-who-initiated-enzyme-replacement-therapy-in-adult-age-an-example-of-case-reports
#2
REVIEW
Miguel Sampayo-Cordero, Bernat Miguel-Huguet, Almudena Pardo-Mateos, Marc Moltó-Abad, Cecilia Muñoz-Delgado, Jordi Pérez-López
BACKGROUND: Case reports might have a prominent role in the rare diseases field, due to the small number of patients affected by one such disease. A previous systematic review regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I (MPS-I) who initiated enzyme replacement therapy (ERT) in adult age has been published. The review included a meta-analysis of 19 clinical studies and the description of eleven case reports. It was of interest to perform a meta-analysis of those case reports to explore the role of such meta-analyses as a tool for evidence-based medicine in rare diseases...
January 5, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29336621/beta-alanine-does-not-enhance-the-effects-of-resistance-training-in-older-adults
#3
Christopher H Bailey, Joseph F Signorile, Arlette C Perry, Kevin A Jacobs, Nicholas D Myers
To investigate the potential of beta-alanine to increase muscular endurance of elder individuals in specific resistance-training protocols, we randomly assigned 27 participants (60-82 years of age) to a 12-week double-blind intervention using 3.2 g/day beta-alanine or placebo with or without resistance training to determine the effects on anthropometrics, muscular performance, and activities of daily living (ADL). The endurance-based resistance-training program (ERT) was given three times per week and included two sets of 15-25 repetitions on 11 computerized pneumatic machines (alternating upper and lower body) at an intensity of 50% of maximum lifting weight (1RM)...
January 16, 2018: Journal of Dietary Supplements
https://www.readbyqxmd.com/read/29326878/ten-year-long-enzyme-replacement-therapy-shows-a-poor-effect-in-alleviating-giant-leg-ulcers-in-a-male-with-fabry-disease
#4
Jun Okada, Mohammad Arif Hossain, Chen Wu, Takashi Miyajima, Hiroko Yanagisawa, Keiko Akiyama, Yoshikatsu Eto
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A), leading to the progressive accumulation of glycosphingolipids. Classical hemizygous males usually present symptoms, including pain and paresthesia in the extremities, angiokeratoma, hypo- or anhidrosis, abdominal pain, cornea verticillata, early stroke, tinnitus, and/or hearing loss, during early childhood or adolescence. Moreover, proteinuria, renal impairment, and cardiac hypertrophy can appear with age...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29326130/inward-rectifier-potassium-channels-kir2-x-and-caveolin-3-domain-specific-interaction-implications-for-purkinje-cell-dependent-ventricular-arrhythmias
#5
Ravi Vaidyanathan, Hanora Van Ert, Kazi T Haq, Stefano Morotti, Samuel Esch, Elise C McCune, Eleonora Grandi, Lee L Eckhardt
BACKGROUND: In human cardiac ventricle, IK1 is mainly comprised Kir2.1, but Kir2.2 and Kir2.3 heterotetramers occur and modulate IK1. Long-QT syndrome-9-associated CAV3 mutations cause decreased Kir2.1 current density, but Kir2.x heterotetramers have not been studied. Here, we determine the effect of long-QT syndrome-9-CAV3 mutation F97C on Kir2.x homo- and heterotetramers and model-associated arrhythmia mechanisms. METHODS AND RESULTS: Super-resolution microscopy, co-immunoprecipitation, cellular electrophysiology, on-cell Western blotting, and simulation of Purkinje and ventricular myocyte mathematical models were used...
January 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29301786/endogenous-line-1-long-interspersed-nuclear-element-1-reverse-transcriptase-activity-in-platelets-controls-translational-events-through-rna-dna-hybrids
#6
Hansjörg Schwertz, Jesse W Rowley, Gerald G Schumann, Ulrike Thorack, Robert A Campbell, Bhanu Kanth Manne, Guy A Zimmerman, Andrew S Weyrich, Matthew T Rondina
OBJECTIVE: One source of endogenous reverse transcriptase (eRT) activity in nucleated cells is the LINE-1/L1 (long interspersed nuclear element-1), a non-LTR retrotransposon that is implicated in the regulation of gene expression. Nevertheless, the presence and function of eRT activity and LINE-1 in human platelets, an anucleate cell, has not previously been determined. APPROACH AND RESULTS: We demonstrate that human and murine platelets possess robust eRT activity and identify the source as being LINE-1 ribonucleoprotein particles...
January 4, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29299922/stabilization-of-human-tyrosine-hydroxylase-in-maltodextrin-nanoparticles-for-delivery-to-neuronal-cells-and-tissue
#7
Maria Teresa Bezem, Fredrik Gullaksen Johannessen, Kunwar Jung-Kc, Edvin Tang Gundersen, Ana Jorge-Finnigan, Ming Ying, Didier Betbeder, Lars Herfindal, Aurora Martinez
Enzyme replacement therapy (ERT) is a therapeutic approach envisioned decades ago for the correction of genetic disorders, but it is only after improvements in recombinant protein expression and purification that the applicability of this approach has increased. Customarily, ERT has been less successful for the correction of disorders with neurological manifestations. In this work we have tested the functionality of nanoparticles (NP) composed of maltodextrin with a lipid core to bind and stabilize tyrosine hydroxylase (TH), which is a complex and unstable brain enzyme that catalyzes the rate limiting step in the synthesis of dopamine and other catecholamine neurotransmitters...
January 4, 2018: Bioconjugate Chemistry
https://www.readbyqxmd.com/read/29296186/genetic-variants-associated-with-fabry-disease-progression-despite-enzyme-replacement-therapy
#8
Francesca Scionti, Maria Teresa Di Martino, Simona Sestito, Angela Nicoletti, Francesca Falvo, Katia Roppa, Mariamena Arbitrio, Pietro Hiram Guzzi, Giuseppe Agapito, Antonio Pisani, Eleonora Riccio, Daniela Concolino, Licia Pensabene
Enzyme replacement therapy (ERT) has been widely used for the treatment of Fabry disease, a rare X-linked recessive disorder due to absent or reduced activity of lysosomal enzyme α-galactosidase A. It is still unclear why some patients under ERT show disease progression typically with renal, cardiovascular and cerebrovascular dysfunctions. Here, we investigated the involvement of drug absorption, distribution, metabolism, and excretion gene variants in response variability to ERT, genotyping 37 patients with the Affymetrix Drug Metabolizing Enzyme and Transporters (DMET) Plus microarray...
December 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/29295764/gene-therapy-for-mucopolysaccharidoses
#9
REVIEW
Kazuki Sawamoto, Hui-Hsuan Chen, Carlos J Alméciga-Díaz, Robert W Mason, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders (LSDs) caused by a deficiency of lysosomal enzymes, leading to a wide range of various clinical symptoms depending upon the type of MPS or its severity. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), and various surgical procedures are currently available for patients with MPS. However, there is no curative treatment for this group of disorders. Gene therapy should be a one-time permanent therapy, repairing the cause of enzyme deficiency...
December 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29295737/immunomodulatory-liver-depot-gene-therapy-for-pompe-disease
#10
J E Bond, P S Kishnani, D D Koeberl
Pompe disease is caused by mutations in acid alpha glucosidase (GAA) that causes accumulation of lysosomal glycogen affecting the heart and skeletal muscles, and can be fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) improves muscle function by reducing glycogen accumulation. Limitations of ERT include a short half-life and the formation of antibodies that result in reduced efficacy. By harnessing the immune tolerance induction properties of the liver, liver-targeted gene delivery (with an adeno-associated virus vector containing a liver specific promoter), suppresses immunity against the GAA introduced by gene therapy...
December 29, 2017: Cellular Immunology
https://www.readbyqxmd.com/read/29290814/dual-targeting-of-acute-leukemia-and-supporting-niche-by-cxcr4-directed-theranostics
#11
Stefan Habringer, Constantin Lapa, Peter Herhaus, Margret Schottelius, Rouzanna Istvanffy, Katja Steiger, Julia Slotta-Huspenina, Andreas Schirbel, Heribert Hänscheid, Stefan Kircher, Andreas K Buck, Katharina Götze, Binje Vick, Irmela Jeremias, Markus Schwaiger, Christian Peschel, Robert Oostendorp, Hans-Jürgen Wester, Götz-Ulrich Grigoleit, Ulrich Keller
C-X-C chemokine receptor 4 (CXCR4) is a transmembrane receptor with pivotal roles in cell homing and hematopoiesis. CXCR4 is also involved in survival, proliferation and dissemination of cancer, including acute lymphoblastic and myeloid leukemia (ALL, AML). Relapsed/refractory ALL and AML are frequently resistant to conventional therapy and novel highly active strategies are urgently needed to overcome resistance. Methods: We used patient-derived (PDX) and cell line-based xenograft mouse models of ALL and AML to evaluate the efficacy and toxicity of a CXCR4-targeted endoradiotherapy (ERT) theranostic approach...
2018: Theranostics
https://www.readbyqxmd.com/read/29289479/enzyme-replacement-therapy-with-alglucosidase-alfa-in-pompe-disease-clinical-experience-with-rate-escalation
#12
Ankit K Desai, Crista K Walters, Heidi L Cope, Zoheb B Kazi, Stephanie M DeArmey, Priya S Kishnani
Patients with Pompe disease have realized significant medical benefits due to enzyme replacement therapy (ERT) infusions with alglucosidase alfa. However, regular infusions are time-consuming. Utilizing recommended infusion rates, infusion duration is 3h 45min for a patient receiving the standard dose of 20mg/kg, not including additional time needed for preparation of ERT, assessment of vital signs, intravenous access, and post-infusion monitoring. Recent studies have demonstrated increased effectiveness of higher dose of ERT (40mg/kg) in infantile-onset Pompe disease (IOPD), which increases the infusion duration to 6h 36min...
December 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29288396/plasma-lyso-gb3-a-biomarker-for-monitoring-fabry-patients-during-enzyme-replacement-therapy
#13
Hitoshi Sakuraba, Tadayasu Togawa, Takahiro Tsukimura, Hiroshi Kato
BACKGROUND: Recently, globotriaosylsphingosine (lyso-Gb3) has attracted interest as a biomarker of Fabry disease. However, little is known regarding its utility for the evaluation of the therapeutic efficacy. METHOD: We measured plasma lyso-Gb3 concentration in Japanese healthy subjects and Fabry patients by means of liquid chromatography-tandem mass spectrometry (LC-MS/MS). We determined the reference interval in Japanese (UMIN000016854), and examined the effect of enzyme replacement therapy (ERT) with recombinant α-galactosidase A (GLA) and the influence of antibodies against the enzyme on the plasma lyso-Gb3 level in Fabry patients (UMIN000017152)...
December 29, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29274987/anterior-capsulorhexis-opening-reduction-after-cataract-surgery-with-subluxated-lenses
#14
Juris Vanags, Renārs Erts, Guna Laganovska
BACKGROUND AND OBJECTIVE: This study sought to evaluate anterior capsulorhexis opening (ACO) reductions after surgery for a subluxated lens. Significant reduction of an ACO supports direct zonular involvement (capsular factors excluded by use of capsular tension rings [CTRs] and modern intraocular lens [IOLs]), and these findings question the long-term efficacy of subluxated lens surgery by means of cataract surgery. A small ACO due to lens mobility, non-enlargement of the ACO, and no lens epithelial cell washing due to an additional risk of further zonular damage were left as additional features to evaluate the possible outcomes of this simplified but still complicated surgery...
December 14, 2017: Medicina
https://www.readbyqxmd.com/read/29274340/four-unreported-types-of-glycans-containing-mannose-6-phosphate-are-heterogeneously-attached-at-three-sites-including-newly-found-asn-233-to-recombinant-human-acid-alpha-glucosidase-that-is-the-only-approved-treatment-for-pompe-disease
#15
Heajin Park, Jihye Kim, Young Kwang Lee, Wooseok Kim, Seung Kwan You, Jonghye Do, Yeonjoo Jang, Doo-Byung Oh, Jae Il Kim, Ha Hyung Kim
Myozyme is a recombinant human acid alpha-glucosidase (rhGAA) that is currently the only drug approved for treating Pompe disease, and its low efficacy means that a high dose is required. Mannose-6-phosphate (M6P) glycosylation on rhGAA is a key factor influencing lysosomal enzyme targeting and the efficacy of enzyme replacement therapy (ERT); however, its complex structure and relatively small quantity still remain to be characterized. This study investigated M6P glycosylation on rhGAA using liquid chromatography (LC)-electrospray ionization (ESI)-high-energy collisional dissociation (HCD) tandem mass spectrometry (MS/MS)...
December 20, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29274327/investigation-of-correlation-of-urinary-globotriaosylceramide-gb3-levels-with-markers-of-renal-function-in-patients-with-fabry-disease
#16
Alana Pimentel Moura, Tatiane Hammerschmidt, Marion Deon, Roberto Giugliani, Carmen Regla Vargas
Fabry disease (FD) is a disorder that results from mutations of hydrolase α-galactosidase A. The enzymatic defect leads to accumulation of globotriaosylceramide (Gb3) in the kidney. Substrate deposition is related to tissue damage in FD, but the relation of urinary Gb3 levels in patients and the renal function markers remain not completely understood. Once nephropathy is one of the main features of FD and is marked by an insidious development, we investigated a possible correlation of Gb3 with biochemical markers of nephropathy including albuminuria, estimated glomerular filtration rate (eGFR), serum creatinine and urea, and proteinuria in male and female patients under or not enzyme replacement therapy (ERT)...
December 21, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29262333/systemic-messenger-rna-therapy-as-a-treatment-for-methylmalonic-acidemia
#17
Ding An, Jessica L Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E Murphy-Benenato, E Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M Lukacs, Randy J Chandler, Lin T Guey, Charles P Venditti, Paolo G V Martini
Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although promising, AAV gene therapy can be limited by pre-existing immunity and has been associated with genotoxicity in mice. To develop a new class of therapy for MMA, we generated a pseudoU-modified codon-optimized mRNA encoding human methylmalonyl-CoA mutase (hMUT), the enzyme most frequently mutated in MMA, and encapsulated it into biodegradable lipid nanoparticles (LNPs)...
December 19, 2017: Cell Reports
https://www.readbyqxmd.com/read/29248359/impact-of-long-term-elosulfase-alfa-on-activities-of-daily-living-in-patients-with-morquio-a-syndrome-in-an-open-label-multi-center-phase-3-extension-study
#18
Christian J Hendriksz, Rossella Parini, Moeenaldeen D AlSayed, Julian Raiman, Roberto Giugliani, John J Mitchell, Barbara K Burton, Norberto Guelbert, Fiona J Stewart, Derralynn A Hughes, Robert Matousek, Sara M Hawley, Celeste Decker, Paul R Harmatz
BACKGROUND: Long-term safety and efficacy of elosulfase alfa enzyme replacement therapy (ERT) were assessed in 173 patients with Morquio A syndrome (mucopolysaccharidosis IVA) in a 96-week, open-label, multi-center, phase 3 extension study (MOR-005) of the pivotal 24-week, placebo-controlled study (MOR-004). Changes in efficacy endpoints were evaluated over 120weeks, from MOR-004 baseline to MOR-005 week 96. We report the impact of ERT on activities of daily living (ADL) across three domains (mobility, self-care, and caregiver-assistance), as assessed by the Mucopolysaccharidosis Health Assessment Questionnaire (MPS-HAQ) after 72 and 120weeks or approximately 1 and 2years...
December 5, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29246798/dlx3-dependent-stat3-signaling-in-keratinocytes-regulates-skin-immune-homeostasis
#19
Shreya Bhattacharya, Jin-Chul Kim, Youichi Ogawa, Gaku Nakato, Veronica Nagle, Stephen R Brooks, Mark C Udey, Maria I Morasso
Epidermal specific deletion of the homeobox transcription regulator DLX3 disrupts keratinocyte differentiation and results in an IL-17-linked psoriasis-like skin inflammation. To identify the epidermal initiating signals produced by DLX3-null keratinocytes, we performed acute deletion of DLX3 in adult epidermis using a tamoxifen-inducible Krt14-cre/ERT system. K14CreERT;DLX3fl/fl (icKO) skin exhibited dysregulated expression of differentiation-associated genes, upregulation of proinflammatory cytokines, and accumulation of Langerhans cells and macrophages within 3 days of tamoxifen-induced DLX3 ablation...
December 12, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29243494/does-subinhibitory-concentrations-of-clinically-important-antibiotic-induce-biofilm-production-of-enterococcus-faecium-strains
#20
Fatma Neslihan Yuksel, Neslihan Taskale Karatug, Mustafa Akcelik
Biofilm structures are the most resistant form of active microorganisms against sanitation, disinfection, and sterilization processes. One of the specific properties of biofilm is the development of antibiotic resistance that can be up to 1,000-fold greater than planktonic cells. Enterococcus faecium is a human pathogen that causes nosocomial bacteremia and at the present time, it is well known that most of the chronic infections are biofilm-based. Recent evidence suggested that subinhibitory concentrations (sub-MICs) of antibiotics have an important role in the evolution of antibiotic resistance and induction on biofilm formation...
December 15, 2017: Acta Microbiologica et Immunologica Hungarica
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