Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Jon J. Brudvig"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3. While extensive efforts have been undertaken to unde
Externí odkaz:
https://doaj.org/article/add1cc127d6140539d5ad59353d974ac
Autor:
Vicki J. Swier, Katherine A. White, Tyler B. Johnson, Xiaojun Wang, Jimin Han, David A. Pearce, Ruchira Singh, Arlene V. Drack, Wanda Pfeifer, Christopher S. Rogers, Jon J. Brudvig, Jill M. Weimer
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 8 (2023)
Externí odkaz:
https://doaj.org/article/3337fe76b208495abbbceb7bc70a4a23
Autor:
Tyler B. Johnson, Jon J. Brudvig, Shibi Likhite, Melissa A. Pratt, Katherine A. White, Jacob T. Cain, Clarissa D. Booth, Derek J. Timm, Samantha S. Davis, Brandon Meyerink, Ricardo Pineda, Cassandra Dennys-Rivers, Brian K. Kaspar, Kathrin Meyer, Jill M. Weimer
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
CLN3 disease, caused by biallelic mutations in the CLN3 gene, is a rare pediatric neurodegenerative disease that has no cure or disease modifying treatment. The development of effective treatments has been hindered by a lack of etiological knowledge,
Externí odkaz:
https://doaj.org/article/cb379df157064165b746745383d34428
Autor:
Mitchell J. Rechtzigel, Brandon L. Meyerink, Hannah Leppert, Tyler B. Johnson, Jacob T. Cain, Gavin Ferrandino, Danielle G. May, Kyle J. Roux, Jon J. Brudvig, Jill M. Weimer
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2022)
Batten disease is unique among lysosomal storage disorders for the early and profound manifestation in the central nervous system, but little is known regarding potential neuron-specific roles for the disease-associated proteins. We demonstrate subst
Externí odkaz:
https://doaj.org/article/fa0434a2a5f14c128f2774c04d0eb17d
Autor:
Jon J. Brudvig, Jill M. Weimer
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 5 (2022)
CLN7 Batten disease, also known as variant late infantile neuronal ceroid lipofuscinosis type 7 (vLINCL7), is an ultra-rare form of Batten disease that presents early in life with severe neurological symptoms, including visual deficits, motor problem
Externí odkaz:
https://doaj.org/article/644fb89e04c044c986c1ece31114d826
Autor:
Jon J. Brudvig, Jill Marie Weimer
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 9 (2015)
Intracellular protein-protein interactions are dynamic processes requiring tightly regulated spatial and temporal checkpoints. But how are these spatial and temporal cues integrated to produce highly specific molecular response patterns? A helpful an
Externí odkaz:
https://doaj.org/article/4a57dbc401ae4b15a1895a6310a4c2f7
Autor:
Nagendran Muthusamy, Taufika I. Williams, Ryan O’Toole, Jon J. Brudvig, Kenneth B. Adler, Jill M. Weimer, David C. Muddiman, H. Troy Ghashghaei
Publikováno v:
GeroScience
Ependymal cells (ECs) line the ventricular surfaces of the mammalian central nervous system (CNS) and their development is indispensable to structural integrity and functions of the CNS. We previously reported that EC-specific genetic deletion of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80c229db3a11a55ee611c46cc0d4696f
https://doi.org/10.1007/s11357-022-00517-3
https://doi.org/10.1007/s11357-022-00517-3
Autor:
Jill M Weimer, Jon J Brudvig
Publikováno v:
Cell and Gene Therapy Insights. 7:1539-1547
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6993267409add1eb2eae4b2d9da1e0fd
https://doi.org/10.18609/cgti.2021.207
https://doi.org/10.18609/cgti.2021.207
Autor:
Vicki J. Swier, Katherine A. White, Tyler B. Johnson, Xiaojun Wang, Jimin Han, David A. Pearce, Ruchira Singh, Christopher S. Rogers, Jon J. Brudvig, Jill M. Weimer
Mouse models of CLN3 Batten disease, a rare lysosomal storage disorder with no cure, have improved our understanding of CLN3 biology and therapeutics through their ease of use and a consistent display of cellular pathology. However, the translatabili
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dbf9cdd0bcfca78f5514db3e08f0bc56
https://doi.org/10.1101/2022.10.07.511360
https://doi.org/10.1101/2022.10.07.511360
Autor:
Vicki J. Swier, Katherine A. White, Tyler B. Johnson, Jessica C. Sieren, Hans J. Johnson, Kevin Knoernschild, Xiaojun Wang, Frank A. Rohret, Christopher S. Rogers, David A. Pearce, Jon J. Brudvig, Jill M. Weimer
Publikováno v:
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics. 19(6)
CLN2 Batten disease is a lysosomal disorder in which pathogenic variants in CLN2 lead to reduced activity in the enzyme tripeptidyl peptidase 1. The disease typically manifests around 2 to 4 years of age with developmental delay, ataxia, seizures, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85856065d0195a2a598913fb2f94aaad
https://pubmed.ncbi.nlm.nih.gov/36100791
https://pubmed.ncbi.nlm.nih.gov/36100791