Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Ashley N. Randle"'
Autor:
Michaël Hocquemiller, Laura Giersch, Xin Mei, Amanda L. Gross, Ashley N. Randle, Heather L. Gray-Edwards, Judith A. Hudson, Sophia Todeasa, Lorelei Stoica, Douglas R. Martin, Miguel Sena-Esteves, Karen Aiach, Ralph Laufer
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 281-292 (2022)
GM1 gangliosidosis is a rare, inherited neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes the lysosomal hydrolase acid β-galactosidase (β-gal). β-gal deficiency leads to toxic accumulation of GM1 ganglioside, predomina
Externí odkaz:
https://doaj.org/article/157bca7427c44bc4a59c76e532caa74e
Autor:
Heather L. Gray-Edwards, Anne S. Maguire, Nouha Salibi, Lauren E. Ellis, Taylor L. Voss, Elise B. Diffie, Jey Koehler, Ashley N. Randle, Amanda R. Taylor, Brandon L. Brunson, Thomas S. Denney, Ronald J. Beyers, Atoska S. Gentry, Amanda L. Gross, Ana R. Batista, Miguel Sena-Esteves, Douglas R. Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 258-270 (2020)
GM1 gangliosidosis (GM1) is a fatal neurodegenerative lysosomal storage disease that occurs most commonly in young children, with no effective treatment available. Long-term follow-up of GM1 cats treated by bilateral thalamic and deep cerebellar nucl
Externí odkaz:
https://doaj.org/article/e5a002b5c4934f989fe4e2733f002031
Autor:
Heather L. Gray-Edwards, Xuntian Jiang, Ashley N. Randle, Amanda R. Taylor, Taylor L. Voss, Aime K. Johnson, Victoria J. McCurdy, Miguel Sena-Esteves, Daniel S. Ory, Douglas R. Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 6, Iss C, Pp 135-142 (2017)
GM1 gangliosidosis is a fatal lysosomal disorder, for which there is no effective treatment. Adeno-associated virus (AAV) gene therapy in GM1 cats has resulted in a greater than 6-fold increase in lifespan, with many cats remaining alive at >5.7 year
Externí odkaz:
https://doaj.org/article/3e3a1ecbcf1a457a8a1a35bcff0c25d7
Autor:
Hannah E. Rockwell, Victoria J. McCurdy, Samuel C. Eaton, Diane U. Wilson, Aime K. Johnson, Ashley N. Randle, Allison M. Bradbury, Heather L. Gray-Edwards, Henry J. Baker, Judith A. Hudson, Nancy R. Cox, Miguel Sena-Esteves, Thomas N. Seyfried, Douglas R. Martin
Publikováno v:
ASN Neuro, Vol 7 (2015)
Sandhoff disease (SD) is an autosomal recessive neurodegenerative disease caused by a mutation in the gene for the β-subunit of β-N-acetylhexosaminidase (Hex), resulting in the inability to catabolize ganglioside GM2 within the lysosomes. SD presen
Externí odkaz:
https://doaj.org/article/ca9dfbf3374b4466a2748535a40d9de2
Autor:
Patricia B. Prevatt, Margaret A. McNulty, Ashley N. Randle, Elizabeth R. Nussbaum, Judith A. Hudson, Aime K. Johnson, Miguel Sena-Esteves, Cathy S. Carlson, Douglas R. Martin, Heather L. Gray-Edwards
Publikováno v:
J Orthop Res
Sandhoff disease (SD) is caused by decreased function of the enzyme β-N-acetylhexosaminidase, resulting in accumulation of GM2 ganglioside in tissues. Neural tissue is primarily affected and individuals with the infantile form of the disease general
Autor:
Ronald J. Beyers, Ana Rita Batista, Heather L. Gray-Edwards, Miguel Sena-Esteves, Thomas S. Denney, Ashley N. Randle, Lauren E. Ellis, Jey W. Koehler, Nouha Salibi, Anne S Maguire, Taylor L. Voss, Amanda L. Gross, Elise B. Diffie, Amanda R. Taylor, Atoska S. Gentry, Douglas R. Martin, Brandon L. Brunson
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 258-270 (2020)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
GM1 gangliosidosis (GM1) is a fatal neurodegenerative lysosomal storage disease that occurs most commonly in young children, with no effective treatment available. Long-term follow-up of GM1 cats treated by bilateral thalamic and deep cerebellar nucl
Autor:
Jey W. Koehler, Ashley N. Randle, Jillian Gallagher, Amanda L. Gross, Elise B. Diffie, Brett D. Story, Sundeep Chandra, Sara Carl, Kayly Nielsen, Paul Cuddon, Miguel Sena-Esteves, Edwin H. Kolodny, Deborah Fernau, Amanda R. Taylor, Douglas R. Martin, Carly Corado, Xuntian Jiang, Heather L. Gray-Edwards, Annie S. Maguire, Toloo Taghian, Siauna Johnson
Publikováno v:
Mol Genet Metab
Tay-Sachs disease (TSD) is a fatal neurodegenerative disease caused by a deficiency of the enzyme β-N-acetylhexosaminidase A (HexA). TSD naturally occurs in Jacob sheep is the only experimental model of TSD. TSD in sheep recapitulates neurologic fea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69a0c7cda10ecdd0ead870203e1fd7ba
https://europepmc.org/articles/PMC8811770/
https://europepmc.org/articles/PMC8811770/
Autor:
Victoria J. McCurdy, Aime K. Johnson, Miguel Sena-Esteves, Nancy E. Morrison, Douglas R. Martin, Ashley N. Randle, Allison M. Bradbury, Heather L. Gray-Edwards, Misako Hwang, Henry J. Baker, Nancy R. Cox
Publikováno v:
Gene therapy
Sandhoff disease (SD) is an autosomal recessive lysosomal storage disease caused by defects in the β-subunit of β-N-acetylhexosaminidase (Hex), the enzyme that catabolizes GM2 ganglioside (GM2). Hex deficiency causes neuronal storage of GM2 and rel
Autor:
Ashley N. Randle, Aime K. Johnson, Heather L. Gray-Edwards, Xuntian Jiang, Victoria J. McCurdy, Daniel S. Ory, Taylor L. Voss, Miguel Sena-Esteves, Amanda R. Taylor, Douglas R. Martin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 6, Iss C, Pp 135-142 (2017)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
GM1 gangliosidosis is a fatal lysosomal disorder, for which there is no effective treatment. Adeno-associated virus (AAV) gene therapy in GM1 cats has resulted in a greater than 6-fold increase in lifespan, with many cats remaining alive at >5.7 year
Autor:
Aime K. Johnson, Tiffany A. Peterson, Ashley N. Randle, Victoria J. McCurdy, Allison M. Bradbury, Brandon L. Brunson, Edward E. Morrison, Karen G. Wolfe, Heather L. Gray-Edwards, Henry J. Baker, Miguel Sena-Esteves, Stephen Z. Wells, Nancy R. Cox, John C. Dennis, Douglas R. Martin, Amanda L. Gross
Publikováno v:
Neuroscience. 340:117-125
Sandhoff disease (SD) is a lysosomal storage disorder characterized by the absence of hydrolytic enzyme β-N-acetylhexosaminidase (Hex), which results in storage of GM2 ganglioside in neurons and unremitting neurodegeneration. Neuron loss initially a