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Relevant bibliographies by topics / Mucopolysaccharidosis Gene therapy

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Academic literature on the topic 'Mucopolysaccharidosis Gene therapy'

Author: Grafiati

Published: 4 June 2021

Last updated: 31 January 2023

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Journal articles on the topic "Mucopolysaccharidosis Gene therapy"

1

Ponder, Katherine P., and Mark E. Haskins. "Gene therapy for mucopolysaccharidosis." Expert Opinion on Biological Therapy 7, no. 9 (August 29, 2007): 1333–45. http://dx.doi.org/10.1517/14712598.7.9.1333.

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2

Wood, Heather. "Gene therapy for mucopolysaccharidosis shows promise." Nature Reviews Neurology 13, no. 9 (July 28, 2017): 513. http://dx.doi.org/10.1038/nrneurol.2017.110.

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3

Sands, Mark S., John H. Wolfe, Edward H. Birkenmeier, Jane E. Barker, Carole Vogler, William S. Sly, Torayuki Okuyama, Brian Freeman, Andrew Nicholes, and Nicholas Muzyczka. "Gene therapy for murine mucopolysaccharidosis type VII." Neuromuscular Disorders 7, no. 5 (July 1997): 352–60. http://dx.doi.org/10.1016/s0960-8966(97)00061-8.

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4

Kubaski, Francyne, Fabiano de Oliveira Poswar, Kristiane Michelin-Tirelli, Ursula da Silveira Matte, Dafne D. Horovitz, Anneliese Lopes Barth, Guilherme Baldo, Filippo Vairo, and Roberto Giugliani. "Mucopolysaccharidosis Type I." Diagnostics 10, no. 3 (March 16, 2020): 161. http://dx.doi.org/10.3390/diagnostics10030161.

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Mucopolysaccharidosis type I (MPS I) is caused by the deficiency of α-l-iduronidase, leading to the storage of dermatan and heparan sulfate. There is a broad phenotypical spectrum with the presence or absence of neurological impairment. The classical form is known as Hurler syndrome, the intermediate form as Hurler–Scheie, and the most attenuated form is known as Scheie syndrome. Phenotype seems to be largely influenced by genotype. Patients usually develop several somatic symptoms such as abdominal hernias, extensive dermal melanocytosis, thoracolumbar kyphosis odontoid dysplasia, arthropathy

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Lah, Benjamin, Tadej Jalšovec, Ana Drole Torkar, Jana Kodrič, Saba Battelino, Mojca Žerjav Tanšek, Tadej Battelino, and Urh Grošelj. "GENE THERAPY IN MUCOPOLYSACCHARIDOSIS TYPE IIIA: CASE REPORTS." Slovenska pediatrija, revija pediatrov Slovenije in specialistov šolske ter visokošolske medicine Slovenije 29, no. 2 (2022): 66–71. http://dx.doi.org/10.38031/slovpediatr-2022-2-02en.

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6

Hemsley, Kim, and Adeline Lau. "Intracerebral gene therapy for mucopolysaccharidosis type IIIB syndrome." Lancet Neurology 16, no. 9 (September 2017): 681–82. http://dx.doi.org/10.1016/s1474-4422(17)30200-4.

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7

Vasilev, Filipp, Aitalina Sukhomyasova, and Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome." International Journal of Molecular Sciences 21, no. 2 (January 9, 2020): 421. http://dx.doi.org/10.3390/ijms21020421.

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Previously, we reported a novel disease of impaired glycosaminoglycans (GAGs) metabolism without deficiency of known lysosomal enzymes—mucopolysaccharidosis-plus syndrome (MPSPS). MPSPS, whose pathophysiology is not elucidated, is an autosomal recessive multisystem disorder caused by a specific mutation p.R498W in the VPS33A gene. VPS33A functions in endocytic and autophagic pathways, but p.R498W mutation did not affect both of these pathways in the patient’s skin fibroblast. Nineteen patients with MPSPS have been identified: seventeen patients were found among the Yakut population (Russia) an

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8

Bosch, Fatima. "Gene therapies: Towards a gene therapy for neurological and somatic mucopolysaccharidosis." New Biotechnology 33 (July 2016): S8. http://dx.doi.org/10.1016/j.nbt.2016.06.753.

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9

Piechnik, Matthew, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, et al. "Sex Difference Leads to Differential Gene Expression Patterns and Therapeutic Efficacy in Mucopolysaccharidosis IVA Murine Model Receiving AAV8 Gene Therapy." International Journal of Molecular Sciences 23, no. 20 (October 21, 2022): 12693. http://dx.doi.org/10.3390/ijms232012693.

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Adeno-associated virus (AAV) vector-based therapies can effectively correct some disease pathology in murine models with mucopolysaccharidoses. However, immunogenicity can limit therapeutic effect as immune responses target capsid proteins, transduced cells, and gene therapy products, ultimately resulting in loss of enzyme activity. Inherent differences in male versus female immune response can significantly impact AAV gene transfer. We aim to investigate sex differences in the immune response to AAV gene therapies in mice with mucopolysaccharidosis IVA (MPS IVA). MPS IVA mice, treated with di

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Zapolnik, Paweł, and Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review." International Journal of Molecular Sciences 23, no. 9 (April 26, 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.

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Mucopolysaccharidosis type I (MPS I) is a rare monogenic disease in which glycosaminoglycans’ abnormal metabolism leads to the storage of heparan sulfate and dermatan sulfate in various tissues. It causes its damage and impairment. Patients with the severe form of MPS I usually do not live up to the age of ten. Currently, the therapy is based on multidisciplinary care and enzyme replacement therapy or hematopoietic stem cell transplantation. Applying gene therapy might benefit the MPS I patients because it overcomes the typical limitations of standard treatments. Nanoparticles, including nanoe

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Dissertations / Theses on the topic "Mucopolysaccharidosis Gene therapy"

1

Lutzko, Carolyn Mary. "Gene therapy for canine mucopolysaccharidosis type I." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0006/NQ41221.pdf.

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Langford-Smith, Alexander William Walker. "Lentiviral vector mediated haematopoietic stem cell gene therapy for mucopolysaccharidosis type IIIA." Thesis, University of Manchester, 2012. https://www.research.manchester.ac.uk/portal/en/theses/lentiviral-vector-mediated-haematopoietic-stem-cell-gene-therapy-for-mucopolysaccharidosis-type-iiia(89f8e108-58f3-42bb-8b80-0e0a1fe45fd7).html.

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Mucopolysaccharidosis type III (Sanfilippo) is comprised of four phenotypically similar lysosomal storage disorders (MPS IIIA-D) caused by the deficiency of enzymes that catabolise heparan sulphate (HS). Progressive accumulation of HS results in abnormal behaviour, progressive cognitive and motor impairment and death in mid-teens. There are currently no treatments for MPS III. To assess the effect of novel therapeutics in the mouse models of MPS III it is necessary to examine the effect on primary storage of HS, secondary storage and behaviour. The reported behaviour of MPS IIIA and B mice is

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Yogalingam, Gouri. "Molecular characterisation of feline MPS VI and evaluation of gene therapy /." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phy54.pdf.

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Gliddon, Briony Lee. "Enzyme replacement therapy in a murine model of mucopolysaccharidosis type IIIA /." Title page, contents and abstract only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phg5595.pdf.

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Crawley, Allison Catherine. "Enzyme replacement therapy in a feline model of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phc9107.pdf.

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6

Motas, Mallol Sandra. "Gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (hunter syndrome)." Doctoral thesis, Universitat Autònoma de Barcelona, 2016. http://hdl.handle.net/10803/390961.

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La Mucopolisacaridosis tipus II (MPSII), o síndrome de Hunter, és una malaltia d’acumulació lisosòmica d’herència recessiva lligada al cromosoma X i està causada per la deficiència de l’Iduronat-2-sulfatasa (IDS), enzim que actua en la via de degradació dels glicosaminoglicans (GAGs) heparan sulfat (HS) i dermatan sulfat (DS). Aquests GAGs no degradats s’acumulen als lisosomes de manera patològica, causant disfunció cel·lular. La forma més severa i també més prevalent de la MPSII es caracteritza per una neurodegeneració crònica i progressiva del sistema nerviós central (SNC) acompanyada de dis

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Sorrentino, Nicolina Cristina. "Systemic AAV-mediated gene therapy approach to treat CNS pathology in Mucopolysaccharidosis type IIIA." Thesis, Open University, 2012. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.594745.

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Mucopolysaccharidosis type IIIA (MPS-IIIA) is a severe neurodegenerative lysosomal storage disorder (LSD) inherited as an autosomal recessive trait and caused by sulfamidase deficiency. Using somatic gene transfer, we demonstrated therapeutic efficacy of a novel low-invasive gene therapy approach to treat the brain pathology in MPS-IIIA. The therapeutic strategy is based on a chimeric sulfamidase engineered with both the signal peptide (sp) from the highly secreted iduronate-2-sulfatase (IDS) linked to its N-terminal end and the blood-brain barrier (BBB)-binding domain of apolipoproteinB (ApoB

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Sergijenko, Ana. "Improved lentiviral vectors for haematopoietic stem cell gene therapy of Mucopolysaccaridosis type IIIA." Thesis, University of Manchester, 2012. http://www.manchester.ac.uk/escholar/uk-ac-man-scw:176449.

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Mucopolysaccharidosis type IIIA (MPS IIIA) is caused by mutations in the N-sulphoglucosamine sulphohydrolase (SGSH) gene, leading to cellular accumulation of heparan sulphate and progressive neurodegeneration in patients. One of the proposed treatment methods is haematopoietic stem cell (HSC) gene therapy, which should result in an excess of SGSH produced in the peripheral organs and brain. The pre-clinical feasibility of this approach was demonstrated by our group in a mouse model of MPS IIIA. However, the overall efficiency of this method was limited and a number of approaches to solving the

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Schuh, Roselena Silvestri. "Desenvolvimento de vetores nanotecnológicos lipídicos do sistema CRISPR/Cas9 visando à terapia gênica para Mucopolissacaridose tipo I." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2017. http://hdl.handle.net/10183/175139.

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A mucopolissacaridose tipo I (MPS I) é causada pela deficiência de alfa-L-iduronidase (IDUA), responsável pelo catabolismo de glicosaminoglicanos (GAGs), levando ao acúmulo multissistêmico de sulfato de heparano e dermatano. Este estudo tem por objetivo avaliar o potencial de sistemas lipídicos nanoestruturados como carreadores do plasmídeo do sistema CRISPR/Cas9 e um vetor doador da sequência do gene IDUA/Idua para edição gênica em fibroblastos de pacientes e em modelo murino de MPS I. Foram produzidos lipossomas (DOTAP, DOPE e DSPE-PEG) e nanoemulsões (e TCM) por homogeneização à alta pressã

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10

Pérez, Castro Jennifer Ana. "Estrategia de terapia génica para el tratamiento de las alteraciones auditivas y visuales de la mucopolisacaridosis tipo IIIB." Doctoral thesis, Universitat Autònoma de Barcelona, 2021. http://hdl.handle.net/10803/671992.

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La Mucopolisacaridosi tipus IIIB (MPSIIIB) és una malaltia minoritària d’acumulació lisosòmica, d’herència autosòmica recessiva, causada per la deficiència de l’enzim lisosòmic α-N-acetilglucosaminidasa (NAGLU), la qual cosa provoca l’acumulació de formes parcialment degradades del glicosaminoglicà (GAG) heparan sulfat (HS) a l’interior dels lisosomes. Aquesta acumulació sostinguda en el temps genera disfunció cel·lular i la posterior mort de les cèl·lules. La MPSIIIB presenta una profunda afectació progressiva del Sistema Nerviós Central (SNC) caracteritzada per neurodegeneració i neuroinflam

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Books on the topic "Mucopolysaccharidosis Gene therapy"

1

Lutzko, Carolyn Mary. Gene therapy for canine mucopolysaccharidosis type I. 1999.

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