The Experts below are selected from a list of 177 Experts worldwide ranked by ideXlab platform
Jizhong Zou - One of the best experts on this subject based on the ideXlab platform.
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Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
Orphanet journal of rare diseases, 2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Tay-Sachs Disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD. We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). The TSD neural stem cells exhibited a Disease phenotype of lysosomal lipid accumulation. The Tay-Sachs Disease NSCs were then used to evaluate the therapeutic effects of enzyme replacement therapy (ERT) with recombinant human Hex A protein and two small molecular compounds: hydroxypropyl-β-cyclodextrin (HPβCD) and δ-tocopherol. Using this Disease model, we observed reduction of lipid accumulation by employing enzyme replacement therapy as well as by the use of HPβCD and δ-tocopherol. Our results demonstrate that the Tay-Sachs Disease NSCs possess the characteristic phenotype to serve as a cell-based Disease model for study of the Disease pathogenesis and evaluation of drug efficacy. The enzyme replacement therapy with recombinant Hex A protein and two small molecules (cyclodextrin and tocopherol) significantly ameliorated lipid accumulation in the Tay-Sachs Disease cell model.
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Additional file 1: of Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Figure S1. Tay-Sachs Disease induced pluripotent stem cells (iPSCs) generation and neuronal stem cells (NSCs) differentiation. Figure S2. Characterization of Tay-Sachs Disease iPSCs. Figure S3. Tay-Sachs Disease NSCs express increased lipid accumulation and lysosomal size compared to WT NSCs. Figure S4. Immunofluorescence staining of GM2 in TSD patient NSCs and neurons
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Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
BMC, 2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Abstract Background Tay-Sachs Disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD. Results We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). The TSD neural stem cells exhibited a Disease phenotype of lysosomal lipid accumulation. The Tay-Sachs Disease NSCs were then used to evaluate the therapeutic effects of enzyme replacement therapy (ERT) with recombinant human Hex A protein and two small molecular compounds: hydroxypropyl-β-cyclodextrin (HPβCD) and δ-tocopherol. Using this Disease model, we observed reduction of lipid accumulation by employing enzyme replacement therapy as well as by the use of HPβCD and δ-tocopherol. Conclusion Our results demonstrate that the Tay-Sachs Disease NSCs possess the characteristic phenotype to serve as a cell-based Disease model for study of the Disease pathogenesis and evaluation of drug efficacy. The enzyme replacement therapy with recombinant Hex A protein and two small molecules (cyclodextrin and tocopherol) significantly ameliorated lipid accumulation in the Tay-Sachs Disease cell model
Amanda Baskfield - One of the best experts on this subject based on the ideXlab platform.
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Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
Orphanet journal of rare diseases, 2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Tay-Sachs Disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD. We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). The TSD neural stem cells exhibited a Disease phenotype of lysosomal lipid accumulation. The Tay-Sachs Disease NSCs were then used to evaluate the therapeutic effects of enzyme replacement therapy (ERT) with recombinant human Hex A protein and two small molecular compounds: hydroxypropyl-β-cyclodextrin (HPβCD) and δ-tocopherol. Using this Disease model, we observed reduction of lipid accumulation by employing enzyme replacement therapy as well as by the use of HPβCD and δ-tocopherol. Our results demonstrate that the Tay-Sachs Disease NSCs possess the characteristic phenotype to serve as a cell-based Disease model for study of the Disease pathogenesis and evaluation of drug efficacy. The enzyme replacement therapy with recombinant Hex A protein and two small molecules (cyclodextrin and tocopherol) significantly ameliorated lipid accumulation in the Tay-Sachs Disease cell model.
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Additional file 1: of Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Figure S1. Tay-Sachs Disease induced pluripotent stem cells (iPSCs) generation and neuronal stem cells (NSCs) differentiation. Figure S2. Characterization of Tay-Sachs Disease iPSCs. Figure S3. Tay-Sachs Disease NSCs express increased lipid accumulation and lysosomal size compared to WT NSCs. Figure S4. Immunofluorescence staining of GM2 in TSD patient NSCs and neurons
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Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
BMC, 2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Abstract Background Tay-Sachs Disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD. Results We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). The TSD neural stem cells exhibited a Disease phenotype of lysosomal lipid accumulation. The Tay-Sachs Disease NSCs were then used to evaluate the therapeutic effects of enzyme replacement therapy (ERT) with recombinant human Hex A protein and two small molecular compounds: hydroxypropyl-β-cyclodextrin (HPβCD) and δ-tocopherol. Using this Disease model, we observed reduction of lipid accumulation by employing enzyme replacement therapy as well as by the use of HPβCD and δ-tocopherol. Conclusion Our results demonstrate that the Tay-Sachs Disease NSCs possess the characteristic phenotype to serve as a cell-based Disease model for study of the Disease pathogenesis and evaluation of drug efficacy. The enzyme replacement therapy with recombinant Hex A protein and two small molecules (cyclodextrin and tocopherol) significantly ameliorated lipid accumulation in the Tay-Sachs Disease cell model
Rachel Saunders-pullman - One of the best experts on this subject based on the ideXlab platform.
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Atypical presentation of late-onset Tay-Sachs Disease
Muscle & nerve, 2014Co-Authors: Andres Deik, Rachel Saunders-pullmanAbstract:Introduction Late-onset Tay-Sachs Disease (LOTS) is a lysosomal storage Disease caused by deficient Beta-hexosaminidase A activity.
Ari Zimran - One of the best experts on this subject based on the ideXlab platform.
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neurocognitive testing in late onset Tay Sachs Disease a pilot study
Journal of Inherited Metabolic Disease, 2008Co-Authors: Deborah Elstein, Ruth Navon, Glen M Doniger, Ely S Simon, I Kornlubetzki, Ari ZimranAbstract:Objectives To test neurocognitive function in patients with late-onset Tay–Sachs Disease (LOTS) using a computerized system to assess whether cognition is a clinically relevant outcome measure of possible therapeutic intervention in LOTS.
Jeanette Beers - One of the best experts on this subject based on the ideXlab platform.
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Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
Orphanet journal of rare diseases, 2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Tay-Sachs Disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD. We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). The TSD neural stem cells exhibited a Disease phenotype of lysosomal lipid accumulation. The Tay-Sachs Disease NSCs were then used to evaluate the therapeutic effects of enzyme replacement therapy (ERT) with recombinant human Hex A protein and two small molecular compounds: hydroxypropyl-β-cyclodextrin (HPβCD) and δ-tocopherol. Using this Disease model, we observed reduction of lipid accumulation by employing enzyme replacement therapy as well as by the use of HPβCD and δ-tocopherol. Our results demonstrate that the Tay-Sachs Disease NSCs possess the characteristic phenotype to serve as a cell-based Disease model for study of the Disease pathogenesis and evaluation of drug efficacy. The enzyme replacement therapy with recombinant Hex A protein and two small molecules (cyclodextrin and tocopherol) significantly ameliorated lipid accumulation in the Tay-Sachs Disease cell model.
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Additional file 1: of Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Figure S1. Tay-Sachs Disease induced pluripotent stem cells (iPSCs) generation and neuronal stem cells (NSCs) differentiation. Figure S2. Characterization of Tay-Sachs Disease iPSCs. Figure S3. Tay-Sachs Disease NSCs express increased lipid accumulation and lysosomal size compared to WT NSCs. Figure S4. Immunofluorescence staining of GM2 in TSD patient NSCs and neurons
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Neural stem cells for Disease modeling and evaluation of therapeutics for Tay-Sachs Disease
BMC, 2018Co-Authors: Amanda Baskfield, Atena Farkhondeh, Kirill Gorshkov, Omid Motabar, Jeanette Beers, Guokai Chen, Jizhong ZouAbstract:Abstract Background Tay-Sachs Disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of GM2 ganglioside, a glycosphingolipid, in lysosomes. Currently, there is no effective treatment for TSD. Results We generated induced pluripotent stem cells (iPSCs) from two TSD patient dermal fibroblast lines and further differentiated them into neural stem cells (NSCs). The TSD neural stem cells exhibited a Disease phenotype of lysosomal lipid accumulation. The Tay-Sachs Disease NSCs were then used to evaluate the therapeutic effects of enzyme replacement therapy (ERT) with recombinant human Hex A protein and two small molecular compounds: hydroxypropyl-β-cyclodextrin (HPβCD) and δ-tocopherol. Using this Disease model, we observed reduction of lipid accumulation by employing enzyme replacement therapy as well as by the use of HPβCD and δ-tocopherol. Conclusion Our results demonstrate that the Tay-Sachs Disease NSCs possess the characteristic phenotype to serve as a cell-based Disease model for study of the Disease pathogenesis and evaluation of drug efficacy. The enzyme replacement therapy with recombinant Hex A protein and two small molecules (cyclodextrin and tocopherol) significantly ameliorated lipid accumulation in the Tay-Sachs Disease cell model
