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https://www.readbyqxmd.com/read/28100454/gene-therapy-targeting-oligodendrocytes-provides-therapeutic-benefit-in-a-leukodystrophy-model
#1
Elena Georgiou, Kyriaki Sidiropoulou, Jan Richter, Christos Papaneophytou, Irene Sargiannidou, Alexia Kagiava, Georg von Jonquieres, Christina Christodoulou, Matthias Klugmann, Kleopas A Kleopa
Pelizaeus-Merzbacher-like disease or hypomyelinating leukodystrophy-2 is an autosomal recessively inherited leukodystrophy with childhood onset resulting from mutations in the gene encoding the gap junction protein connexin 47 (Cx47, encoded by GJC2). Cx47 is expressed specifically in oligodendrocytes and is crucial for gap junctional communication throughout the central nervous system. Previous studies confirmed that a cell autonomous loss-of-function mechanism underlies hypomyelinating leukodystrophy-2 and that transgenic oligodendrocyte-specific expression of another connexin, Cx32 (GJB1), can restore gap junctions in oligodendrocytes to achieve correction of the pathology in a disease model...
January 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28098415/intracranial-aav-ifn-%C3%AE-gene-therapy-eliminates-invasive-xenograft-glioblastoma-and-improves-survival-in-orthotopic-syngeneic-murine-model
#2
Dwijit GuhaSarkar, James Neiswender, Qin Su, Guangping Gao, Miguel Sena-Esteves
The highly invasive property of glioblastoma (GBM) cells and genetic heterogeneity are largely responsible for tumor recurrence after the current standard-of-care treatment and thus a direct cause of death. Previously, we have shown that intracranial interferon-beta (IFN-β) gene therapy by locally administered adeno-associated viral vectors (AAV) successfully treats noninvasive orthotopic glioblastoma models. Here, we extend these findings by testing this approach in invasive human GBM xenograft and syngeneic mouse models...
November 9, 2016: Molecular Oncology
https://www.readbyqxmd.com/read/28096054/glycogen-storage-disease-type-ia-mice-with-less-than-2-of-normal-hepatic-glucose-6-phosphatase-%C3%AE-activity-restored-are-at-risk-of-developing-hepatic-tumors
#3
Goo-Young Kim, Young Mok Lee, Joon Hyun Kwon, Jun-Ho Cho, Chi-Jiunn Pan, Matthew F Starost, Brian C Mansfield, Janice Y Chou
Glycogen storage disease type Ia (GSD-Ia), characterized by impaired glucose homeostasis and chronic risk of hepatocellular adenoma (HCA) and carcinoma (HCC), is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC). We have previously shown that G6pc-/- mice receiving gene transfer mediated by rAAV-G6PC, a recombinant adeno-associated virus (rAAV) vector expressing G6Pase-α, and expressing 3-63% of normal hepatic G6Pase-α activity maintain glucose homeostasis and do not develop HCA/HCC. However, the threshold of hepatic G6Pase-α activity required to prevent tumor formation remained unknown...
January 10, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28095637/gene-therapy-for-achromatopsia
#4
REVIEW
Stylianos Michalakis, Christian Schön, Elvir Becirovic, Martin Biel
AIM: This review summarizes the current status of Achromatopsia (ACHM) gene therapy-related research activities and provides an outlook for their clinical application. DISCUSSION: ACHM is an inherited eye disease characterized by congenital absence of cone photoreceptor function. As a consequence, ACHM is associated with strongly impaired daylight vision, photophobia, nystagmus, and lack of color discrimination. Currently, six genes have been linked to ACHM. Up to 80% of the patients carry mutations in the genes CNGA3 and CNGB3 encoding the two subunits of the cone cyclic nucleotide-gated (CNG) channel...
January 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28094877/hypothalamus-specific-re-introduction-of-snord116-into-otherwise-snord116-deficient-mice-increased-energy-expenditure
#5
Y Qi, L Purtell, M Fu, L Zhang, S Zolotukhin, L Campbell, H Herzog
The Snord116 gene cluster has been recognized as a critical contributor to the Prader-Willi Syndrome (PWS) with mice lacking Snord116 displaying many classical PWS phenotypes including low postnatal body weight, reduced bone mass and increased food intake. However, these mice do not develop obesity due to increased energy expenditure. To understand the physiological function of Snord116 better and potentially rescue the altered metabolism of Snord116(-/-) mice, we used an adeno-associated viral (AAV) approach to reintroduce the Snord116 gene product into the hypothalamus in Snord116(-/-) mice at different ages...
January 17, 2017: Journal of Neuroendocrinology
https://www.readbyqxmd.com/read/28088781/mir-30c-5p-ameliorates-hepatic-steatosis-in-leptin-receptor-deficient-db-db-mice-via-down-regulating-fasn
#6
Jiahui Fan, Huaping Li, Xiang Nie, Zhongwei Yin, Yanru Zhao, Chen Chen, Dao Wen Wang
Approximately 15-40% of the general adult population suffers from non-alcoholic fatty liver disease (NAFLD) worldwide. However, no drug is currently licensed for its treatment. In this study, we observed a significant reduction of miR-30c-5p in the liver of leptin receptor-deficient (db/db) mice. Remarkably, recombinant adeno-associated virus (rAAV)-mediated delivery of miR-30c-5p was sufficient to attenuate triglyceride accumulation and hepatic steatosis in db/db mice. Through computational prediction, KEGG analysis and Ago2 co-immunoprecipitation, we identified that miR-30c-5p directly targeted fatty acid synthase, a key enzyme in fatty acid biosynthesis...
January 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28076378/p62-pathology-model-in-the-rat-substantia-nigra-with-filamentous-inclusions-and-progressive-neurodegeneration
#7
Kasey L Jackson, Wen-Lang Lin, Sumitra Miriyala, Robert D Dayton, Manikandan Panchatcharam, Kevin J McCarthy, Monica Castanedes-Casey, Dennis W Dickson, Ronald L Klein
One of the proteins most frequently found in neuropathological lesions is the ubiquitin binding protein p62 (sequestosome 1). Post-mortem analysis of p62 is a defining diagnostic marker in several neurodegenerative diseases including amyotrophic lateral sclerosis and inclusion body myositis. Since p62 functions in protein degradation pathways including autophagy, the build-up of p62-positive inclusions suggests defects in protein clearance. p62 was expressed unilaterally in the rat substantia nigra with an adeno-associated virus vector (AAV9) in order to study p62 neuropathology...
2017: PloS One
https://www.readbyqxmd.com/read/28073291/future-of-raav-gene-therapy-platform-for-rnai-gene-editing-and-beyond
#8
Paul Valdmanis, Mark A Kay
The use of recombinant adeno-associated viruses (rAAVs) ushered in a new millennium of gene transfer for therapeutic treatment of a number of conditions including congenital blindness, hemophilia, and spinal muscular atrophy (SMA). rAAV vectors have remarkable staying power from a therapeutic standpoint withstanding several ebbs and flows. As new technologies such as clustered regularly interspaced short palindromic repeat (CRISPR) genome editing emerge, it is now the delivery tool - the AAV vector - that is the stalwart...
January 10, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28067312/adeno-associated-virus-serotype-rh-10-displays-strong-muscle-tropism-following-intraperitoneal-delivery
#9
Jianzhong Ai, Jia Li, Dominic J Gessler, Qin Su, Qiang Wei, Hong Li, Guangping Gao
Recombinant adeno-associated virus (rAAV) is an attractive tool for basic science and translational medicine including gene therapy, due to the versatility in its cell and organ transduction. Previous work indicates that rAAV transduction patterns are highly dependent on route of administration. Based on this relationship, we hypothesized that intraperitoneal (IP) administration of rAAV produces unique patterns of tissue tropism. To test this hypothesis, we investigated the transduction efficiency of 12 rAAV serotypes carrying an enhanced green fluorescent protein (EGFP) reporter gene in a panel of 12 organs after IP injection...
January 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28067008/histidine-rich-designer-peptides-of-the-lah4-family-promote-cell-delivery-of-a-multitude-of-cargo
#10
Gilles Moulay, Christian Leborgne, A James Mason, Christopher Aisenbrey, Antoine Kichler, Burkhard Bechinger
The histidine-rich designer peptides of the LAH4 family exhibit potent antimicrobial, transfection, transduction and cell-penetrating properties. They form non-covalent complexes with their cargo, which often carry a negative overall charge at pH 7.4 and include a large range of molecules and structures such as oligonucleotides, including siRNA and DNA, peptides, proteins, nanodots and adeno-associated viruses. These complexes are thought to enter the cells through an endosomal pathway where the acidification of the organelle is essential for efficient endosomal escape...
January 9, 2017: Journal of Peptide Science: An Official Publication of the European Peptide Society
https://www.readbyqxmd.com/read/28060929/a-single-vector-platform-for-high-level-gene-transduction-of-central-neurons-adeno-associated-virus-vector-equipped-with-the-tet-off-system
#11
Jaerin Sohn, Megumu Takahashi, Shinichiro Okamoto, Yoko Ishida, Takahiro Furuta, Hiroyuki Hioki
Visualization of neurons is indispensable for the investigation of neuronal circuits in the central nervous system. Virus vectors have been widely used for labeling particular subsets of neurons, and the adeno-associated virus (AAV) vector has gained popularity as a tool for gene transfer. Here, we developed a single AAV vector Tet-Off platform, AAV-SynTetOff, to improve the gene-transduction efficiency, specifically in neurons. The platform is composed of regulator and response elements in a single AAV genome...
2017: PloS One
https://www.readbyqxmd.com/read/28060283/preparation-of-raav9-to-overexpress-or-knockdown-genes-in-mouse-hearts
#12
Jian Ding, Zhi-Qiang Lin, Jian-Ming Jiang, Christine E Seidman, Jonathan G Seidman, William T Pu, Da-Zhi Wang
Controlling the expression or activity of specific genes through the myocardial delivery of genetic materials in murine models permits the investigation of gene functions. Their therapeutic potential in the heart can also be determined. There are limited approaches for in vivo molecular intervention in the mouse heart. Recombinant adeno-associated virus (rAAV)-based genome engineering has been utilized as an essential tool for in vivo cardiac gene manipulation. The specific advantages of this technology include high efficiency, high specificity, low genomic integration rate, minimal immunogenicity, and minimal pathogenicity...
December 17, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28059103/radioiodinated-capsids-facilitate-in-vivo-non-invasive-tracking-of-adeno-associated-gene-transfer-vectors
#13
P Kothari, B P De, B He, A Chen, M J Chiuchiolo, D Kim, A Nikolopoulou, A Amor-Coarasa, J P Dyke, H U Voss, S M Kaminsky, C P Foley, S Vallabhajosula, B Hu, S G DiMagno, D Sondhi, R G Crystal, J W Babich, D Ballon
Viral vector mediated gene therapy has become commonplace in clinical trials for a wide range of inherited disorders. Successful gene transfer depends on a number of factors, of which tissue tropism is among the most important. To date, definitive mapping of the spatial and temporal distribution of viral vectors in vivo has generally required postmortem examination of tissue. Here we present two methods for radiolabeling adeno-associated virus (AAV), one of the most commonly used viral vectors for gene therapy trials, and demonstrate their potential usefulness in the development of surrogate markers for vector delivery during the first week after administration...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28058779/dual-role-of-il-1%C3%AE-in-islet-amyloid-formation-and-its-%C3%AE-cell-toxicity-implications-in-type-2-diabetes-and-islet-transplantation
#14
Yoo Jin Park, Garth L Warnock, Ziliang Ao, Nooshin Safikhan, Mark Meloche, Ali Asadi, Timothy J Kieffer, Lucy Marzban
AIMS/HYPOTHESIS: Islet amyloid, formed by aggregation of human islet amyloid polypeptide (hIAPP), contributes to β-cell failure in type 2 diabetes, cultured and transplanted islets. We previously showed that biosynthetic hIAPP aggregates induce β-cell Fas upregulation and activation of the Fas apoptotic pathway. Here, we used cultured human and hIAPP-expressing mouse islets to investigate: (1) the role of IL-1β in amyloid-induced Fas upregulation; (2) the effects of IL-1β-induced β-cell dysfunction on proIAPP processing and amyloid formation...
January 6, 2017: Diabetes, Obesity & Metabolism
https://www.readbyqxmd.com/read/28056565/characterization-of-aav-mediated-human-factor-viii-gene-therapy-in-hemophilia-a-mice
#15
Jenny A Greig, Qiang Wang, Amanda L Reicherter, Shu-Jen Chen, Alexandra L Hanlon, Christopher H Tipper, K Reed Clark, Samuel Wadsworth, Lili Wang, James M Wilson
Adeno-associated viral (AAV) vectors are promising vehicles for hemophilia gene therapy, with favorable clinical trial data seen in the treatment of hemophilia B. In an effort to optimize the expression of human coagulation factor VIII (hFVIII) for the treatment of hemophilia A, we performed an extensive study with numerous combinations of liver-specific promoter and enhancer elements with a codon-optimized hFVIII transgene. After generating 42 variants of three reduced-size promoters and three small enhancers, transgene cassettes were packaged within a single AAV capsid, AAVrh10, to eliminate performance differences due to the capsid type...
January 5, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28055011/neuronal-hemoglobin-affects-dopaminergic-cells-response-to-stress
#16
Marta Codrich, Maria Bertuzzi, Roberta Russo, Margherita Francescatto, Stefano Espinoza, Lorena Zentilin, Mauro Giacca, Daniela Cesselli, Antonio Paolo Beltrami, Paolo Ascenzi, Silvia Zucchelli, Francesca Persichetti, Giampiero Leanza, Stefano Gustincich
Hemoglobin (Hb) is the major protein in erythrocytes and carries oxygen (O2) throughout the body. Recently, Hb has been found synthesized in atypical sites, including the brain. Hb is highly expressed in A9 dopaminergic (DA) neurons of the substantia nigra (SN), whose selective degeneration leads to Parkinson's disease (PD). Here we show that Hb confers DA cells' susceptibility to 1-methyl-4-phenylpyridinium (MPP(+)) and rotenone, neurochemical cellular models of PD. The toxic property of Hb does not depend on O2 binding and is associated with insoluble aggregate formation in the nucleolus...
January 5, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28053186/intracardiac-injection-of-aav9-npc1-significantly-ameliorates-purkinje-cell-death-and-behavioral-abnormalities-in-mouse-niemann-pick-type-c-disease
#17
Chang Xie, Xue-Min Gong, Jie Luo, Bo-Liang Li, Bao-Liang Song
Niemann-Pick type C (NPC) disease is a fatal, inherited neurodegenerative disorder caused by loss-of-function mutations in the NPC1 or NPC2 gene. There is no effective way to treat NPC disease. In this study, we used adeno-associated virus (AAV) serotype 9 to deliver a functional NPC1 gene systemically into NPC1-/- mice at postnatal day 4 (P4). One single AAV9-NPC1 injection resulted in robust NPC1 expression in various tissues including the brain, heart and lung. Strikingly, AAV9-mediated NPC1 delivery significantly promoted Purkinje cell survival, restored locomotor activity and coordination, as well as increased the lifespan of NPC1-/- mice...
January 4, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28052034/antidepressant-effect-of-recombinant-nt4-nap-aav-on-social-isolated-mice-through-intranasal-route
#18
Fei Liu, You-Ping Liu, Gang Lei, Peng Liu, Zheng Chu, Cheng-Ge Gao, Yong-Hui Dang
The purpose of the present study was to observe the depression-like behavior induced by social isolation; detect the antidepressant effect of a recombinant adeno-associated virus (AAV) expressing NAP on social isolation mice by intranasal delivery. After construction of NT4-NAP/AAV, expression of NAP was confirmed in vitro. 3-week-old C57/BL mice were bred individually in cages as social isolation-rearing. Six weeks later, the first subset of mice underwent behavioral tests and western blot; the second was for enzyme-linked immunosorbent assay...
December 29, 2016: Oncotarget
https://www.readbyqxmd.com/read/28049533/inflammatory-pre-conditioning-restricts-the-seeded-induction-of-%C3%AE-synuclein-pathology-in-wild-type-mice
#19
Emily J Koller, Mieu M T Brooks, Todd E Golde, Benoit I Giasson, Paramita Chakrabarty
BACKGROUND: Cell-to-cell transmission of α-synuclein (αSyn) is hypothesized to play an important role in disease progression in synucleinopathies. This process involves cellular uptake of extracellular amyloidogenic αSyn seeds followed by seeding of endogenous αSyn. Though it is well known that αSyn is an immunogenic protein that can interact with immune receptors, the role of innate immunity in regulating induction of αSyn pathology in vivo is unknown. Herein, we explored whether altering innate immune activation affects induction of αSyn pathology in wild type mice...
January 3, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28042944/comparison-of-serum-raav-serotype-specific-antibodies-in-patients-with-duchenne-muscular-dystrophy-becker-muscular-dystrophy-inclusion-body-myositis-or-gne-myopathy
#20
Deborah Zygmunt, Kelly E Crowe, Kevin Flanigan, Paul T Martin
Recombinant Adeno-associated virus (rAAV) is a commonly used gene therapy vector for the delivery of therapeutic transgenes in a variety of human diseases, but pre-existing serum antibodies to viral capsid proteins can greatly inhibit rAAV transduction of tissues. We have assayed serum from patients with Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (DMD), Inclusion Body Myositis (IBM), and GNE myopathy (GNE). These were compared to serum from otherwise normal human subjects to determine the extent of pre-existing serum antibodies to rAAVrh74, rAAV1, rAAV2, rAAV6, rAAV8 and rAAV9...
January 2, 2017: Human Gene Therapy
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