المؤلفون: Vyas M; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Deschenes NM; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Osmon KJL; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Chen Z; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Ahmad I; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada., Kot S; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Thompson P; Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Richmond C; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Gray SJ; Department of Pediatrics, UT Southwestern Medical Center, Dallas, TX 75390, USA., Walia JS; Centre for Neuroscience Studies, Queen's University, Kingston, ON K7L 3N6, Canada.; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada.; Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Sep 27; Vol. 24 (19). Date of Electronic Publication: 2023 Sep 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Tay-Sachs Disease*/therapy , Gangliosidoses, GM2*/genetics , Gangliosidoses, GM2*/therapy, Humans ; Animals ; Mice ; Dependovirus/genetics ; Serogroup ; G(M2) Activator Protein/genetics ; Genetic Therapy

المؤلفون: Shaimardanova AA; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Solovyeva VV; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia., Issa SS; Department of Genetics and Biotechnology, St. Petersburg State University, 199034 St. Petersburg, Russia., Rizvanov AA; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2023 Feb 11; Vol. 24 (4). Date of Electronic Publication: 2023 Feb 11.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Sphingolipidoses*/genetics , Gaucher Disease* , Tay-Sachs Disease*, Humans ; Sphingolipids/metabolism ; Genetic Therapy

المؤلفون: Leal AF; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá 110231, Colombia., Cifuentes J; Department of Biomedical Engineering, Universidad de los Andes, Bogotá 111711, Colombia., Quezada V; Department of Biomedical Engineering, Universidad de los Andes, Bogotá 111711, Colombia., Benincore-Flórez E; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá 110231, Colombia., Cruz JC; Department of Biomedical Engineering, Universidad de los Andes, Bogotá 111711, Colombia., Reyes LH; Grupo de Diseño de Productos y Procesos (GDPP), Department of Chemical and Food Engineering, Universidad de los Andes, Bogotá 111711, Colombia., Espejo-Mojica AJ; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá 110231, Colombia., Alméciga-Díaz CJ; Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá 110231, Colombia.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2022 Sep 14; Vol. 23 (18). Date of Electronic Publication: 2022 Sep 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Gangliosidoses, GM2*/genetics , Gangliosidoses, GM2*/metabolism , Gangliosidoses, GM2*/therapy , Tay-Sachs Disease*/genetics , Tay-Sachs Disease*/metabolism , Tay-Sachs Disease*/therapy, Deoxyribonuclease I/metabolism ; Fibroblasts/metabolism ; G(M2) Activator Protein ; G(M2) Ganglioside/genetics ; G(M2) Ganglioside/metabolism ; Gene Editing ; Globosides/metabolism ; Glycosaminoglycans/metabolism ; Hexosaminidase A/metabolism ; Humans ; Lipopolysaccharides/metabolism ; Liposomes/metabolism ; beta-N-Acetylhexosaminidases/metabolism

المؤلفون: Kot S; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Karumuthil-Melethil S; Gene Therapy Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Woodley E; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada., Zaric V; Gene Therapy Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Thompson P; Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Chen Z; Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada., Lykken E; Gene Therapy Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Keimel JG; New Hope Research Foundation, North Oaks, MN 55127, USA., Kaemmerer WF; New Hope Research Foundation, North Oaks, MN 55127, USA., Gray SJ; Gene Therapy Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Walia JS; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 3N6, Canada.; Medical Genetics, Department of Pediatrics, Queen's University, Kingston, ON K7L 2V7, Canada.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2021 Jun 23; Vol. 22 (13). Date of Electronic Publication: 2021 Jun 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Dependovirus/*genetics , G(M2) Ganglioside/*metabolism , Genetic Vectors/*administration & dosage , Immunity/*immunology , Sandhoff Disease/*immunology , Tay-Sachs Disease/*immunology , beta-Hexosaminidase alpha Chain/*genetics, Animals ; Disease Models, Animal ; Female ; Genetic Therapy ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Sandhoff Disease/genetics ; Sandhoff Disease/therapy ; Tay-Sachs Disease/genetics ; Tay-Sachs Disease/therapy

المؤلفون: Ryckman AE; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 2V5, Canada., Brockhausen I; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 2V5, Canada., Walia JS; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, ON K7L 2V5, Canada.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2020 Sep 19; Vol. 21 (18). Date of Electronic Publication: 2020 Sep 19.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Gangliosides/*metabolism , Glycosphingolipids/*metabolism , Lysosomes/*metabolism , Sandhoff Disease/*metabolism , Tay-Sachs Disease/*metabolism, Alzheimer Disease/metabolism ; Alzheimer Disease/pathology ; Alzheimer Disease/therapy ; Animals ; Humans ; Lysosomes/pathology ; Parkinson Disease/metabolism ; Parkinson Disease/pathology ; Parkinson Disease/therapy ; Sandhoff Disease/pathology ; Sandhoff Disease/therapy ; Tay-Sachs Disease/pathology ; Tay-Sachs Disease/therapy

المؤلفون: Abou Daher A; Department of Anatomy, Cell Biology and Physiology, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon. ara32@mail.aub.edu., El Jalkh T; Department of Anatomy, Cell Biology and Physiology, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon. tj09@aub.edu.lb., Eid AA; Department of Anatomy, Cell Biology and Physiology, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon. ae49@aub.edu.lb., Fornoni A; Department of Medicine, Peggy and Harold Katz Family Drug Discovery Center, University of Miami, Miami, FL 33136, USA. AFornoni@med.miami.edu., Marples B; Department of Radiation Oncology, Miller School of Medicine/Sylvester Cancer Center, University of Miami, Miami, FL 33136, USA. brian.marples@beaumont.org., Zeidan YH; Department of Anatomy, Cell Biology and Physiology, Faculty of Medicine, American University of Beirut, Beirut 1107 2020, Lebanon. yz09@aub.edu.lb.; Department of Radiation Oncology, American University of Beirut Medical Center, Beirut 1107 2020, Lebanon. yz09@aub.edu.lb.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2017 Nov 25; Vol. 18 (12). Date of Electronic Publication: 2017 Nov 25.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Fabry Disease/*metabolism , Kidney Diseases/*metabolism , Podocytes/*metabolism , Sphingolipids/*metabolism , Tay-Sachs Disease/*metabolism, Animals ; Fabry Disease/genetics ; Fabry Disease/therapy ; Humans ; Kidney Diseases/genetics ; Kidney Diseases/therapy ; Tay-Sachs Disease/genetics ; Tay-Sachs Disease/therapy ; Translational Research, Biomedical

المؤلفون: Andrés Felipe Leal, Javier Cifuentes, Valentina Quezada, Eliana Benincore-Flórez, Juan Carlos Cruz, Luis Humberto Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz

المصدر: International Journal of Molecular Sciences, Vol 23, Iss 18, p 10672 (2022)

مصطلحات موضوعية: CRISPR/nCas9, genome editing, GM2 gangliosidoses, non-viral vectors, Sandhoff, Tay–Sachs, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/23/18/10672; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/0fd634efe2bf484eae27400e11735bfb

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المؤلفون: Shalini Kot, Subha Karumuthil-Melethil, Evan Woodley, Violeta Zaric, Patrick Thompson, Zhilin Chen, Erik Lykken, John G. Keimel, William F. Kaemmerer, Steven J. Gray, Jagdeep S. Walia

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 13, p 6751 (2021)

مصطلحات موضوعية: GM2, gangliosidosis, Tay-Sachs, Sandhoff, scAAV9-HEXM, HexM, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/13/6751; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/466f52285cfe442f99f9974dfd0081d6

المؤلفون: Andrés Felipe Leal, Eliana Benincore-Flórez, Daniela Solano-Galarza, Rafael Guillermo Garzón Jaramillo, Olga Yaneth Echeverri-Peña, Diego A. Suarez, Carlos Javier Alméciga-Díaz, Angela Johana Espejo-Mojica

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 17, p 6213 (2020)

مصطلحات موضوعية: lysosomal storage disorders, GM2 gangliosidoses, Tay–Sachs disease, Sandhoff disease, β-Hexosaminidases, therapeutic alternatives, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/21/17/6213; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/c8f206a2c4034157812f5589fe06d2d5