Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Jessica H. Bagel"'
Autor:
Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia O’Donnell, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101272- (2024)
Alpha-mannosidosis is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues. Enzyme replacement therapy is available but is not approved for treating the CN
Externí odkaz:
https://doaj.org/article/32143ef83a1245e2aafcf6401173762a
Autor:
Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia A. O’Donnell, Stephen G. Kaler, John H. Wolfe
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 384-393 (2022)
Multiple studies have examined the transduction characteristics of different AAV serotypes in the mouse brain, where they can exhibit significantly different patterns of transduction. The pattern of transduction also varies with the route of administ
Externí odkaz:
https://doaj.org/article/0a1656607a9844baa60b21f7aa32d924
Autor:
Martin Fan, Rohini Sidhu, Hideji Fujiwara, Brett Tortelli, Jessie Zhang, Cristin Davidson, Steven U. Walkley, Jessica H. Bagel, Charles Vite, Nicole M. Yanjanin, Forbes D. Porter, Jean E. Schaffer, Daniel S. Ory
Publikováno v:
Journal of Lipid Research, Vol 54, Iss 10, Pp 2800-2814 (2013)
Niemann-Pick type C (NPC)1 is a rare neurodegenerative disease for which treatment options are limited. A major barrier to development of effective treatments has been the lack of validated biomarkers to monitor disease progression or serve as outcom
Externí odkaz:
https://doaj.org/article/f9bbecc4235d4c589711bf7c3ede8239
Autor:
Ernesto R. Bongarzone, Charles A. Assenmacher, G. Diane Shelton, Keiko Miyadera, Gary P. Swain, Charles H. Vite, Xuntian Jiang, Erik Lykken, Duc Nguyen, Jill Pesayco Salvador, Jessica H. Bagel, Patricia O'Donnell, Arielle Ostrager, Steven J. Gray, Rebecka S. Hess, Mark S. Sands, Allison M. Bradbury, Daniel S. Ory, Ian J. Hendricks
Publikováno v:
J Clin Invest
Globoid cell leukodystrophy (GLD; Krabbe disease) is a progressive, incurable neurodegenerative disease caused by deficient activity of the hydrolytic enzyme galactosylceramidase (GALC). The ensuing cytotoxic accumulation of psychosine results in dif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7ce5b5cc6bef1edb4b2daa4b39f4091
https://doi.org/10.1172/jci133953
https://doi.org/10.1172/jci133953
Autor:
Manoj Kumar, Dana L. Clarke, Charles H. Vite, Caitlyn Molony, Patricia O'Donnell, Sanjeev Chawla, Harish Poptani, John H. Wolfe, Sea Young Yoon, Jessica H. Bagel, Jacqueline E Hunter
Publikováno v:
Brain
BRAIN
BRAIN
Intravascular injection of certain adeno-associated virus vector serotypes can cross the blood–brain barrier to deliver a gene into the CNS. However, gene distribution has been much more limited within the brains of large animals compared to rodent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab5d0c0588e3124c416953e0eb832af6
https://doi.org/10.1093/brain/awaa161
https://doi.org/10.1093/brain/awaa161
Autor:
Brian C. Gilger, Telmo Llanga, Kendall Carlin, Patricia O'Donnell, Keiko Miyadera, Matthew L. Hirsch, R. Jude Samulski, Joanne Kurtzberg, Liujiang Song, Jessica H. Bagel, Laura Conatser
Publikováno v:
Mol Ther
Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disease characterized by severe phenotypes, including corneal clouding. MPS I is caused by mutations in alpha-l-iduronidase (IDUA), a ubiquitous enzyme that catalyzes th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93abd572904d48271b0ce3491634c7a0
https://doi.org/10.1016/j.ymthe.2020.04.004
https://doi.org/10.1016/j.ymthe.2020.04.004
Autor:
Alfred Lordi, Gary P. Swain, Nicole Kasica, Charles H. Vite, Eric Solon, Susan Stellar, Mark L. Kao, Jessica H. Bagel, Brittney L. Gurda
Publikováno v:
Journal of Inherited Metabolic Disease
2‐Hydroxypropyl‐β‐cyclodextrin (HP‐β‐CD) is an experimental therapy for Niemann‐Pick disease type C (NPC) that reduced neuronal cholesterol and ganglioside storage, reduced Purkinje cell death, and increased lifespan in npc1−/− mice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::876bae85ee541e28ec78b27819832957
https://doi.org/10.1002/jimd.12189
https://doi.org/10.1002/jimd.12189
Autor:
Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia A. O’Donnell, Stephen G. Kaler, John H. Wolfe
Publikováno v:
Molecular therapy. Methodsclinical development. 26
Multiple studies have examined the transduction characteristics of different AAV serotypes in the mouse brain, where they can exhibit significantly different patterns of transduction. The pattern of transduction also varies with the route of administ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e2dbf54610e0d6279d7970e38f218fd
https://pubmed.ncbi.nlm.nih.gov/36034772
https://pubmed.ncbi.nlm.nih.gov/36034772
Autor:
Maria Prociuk, Ernesto R. Bongarzone, Becky K. Brisson, Allison M. Bradbury, Caitlin A. Fitzgerald, Mohammed A Rafi, Jill Pesayco Salvador, Michael S. Marshall, Daniel S. Ory, G. Diane Shelton, Gary P. Swain, Jessica H. Bagel, David A. Wenger, Xuntain Jiang, Charles H. Vite, Patricia O'Donnell
Publikováno v:
Human Gene Therapy. 29:785-801
Globoid cell leukodystrophy (GLD), or Krabbe disease, is an inherited, neurologic disorder that results from deficiency of a lysosomal enzyme, galactosylceramidase. Most commonly, deficits of galactosylceramidase result in widespread central and peri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37734364d5ca067c4325a156e8031633
https://doi.org/10.1089/hum.2017.151
https://doi.org/10.1089/hum.2017.151
Autor:
Peter J. Hand, Samantha J. Fisher, Jessica H. Bagel, Gary P. Swain, Andrew P. Lieberman, Brittney L. Gurda, Charles H. Vite, Mark L. Schultz
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 77:229-245
The feline model of Niemann-Pick disease, type C1 (NPC1) recapitulates the clinical, neuropathological, and biochemical abnormalities present in children with NPC1. The hallmarks of disease are the lysosomal storage of unesterified cholesterol and mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e6b477417dba31d0b4b6514ceac9db9
https://doi.org/10.1093/jnen/nlx119
https://doi.org/10.1093/jnen/nlx119