Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Tyler B Johnson"'
Autor:
Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer
Publikováno v:
Biomarker Insights, Vol 17 (2022)
Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been repo
Externí odkaz:
https://doaj.org/article/4ceddb055469419e823d73e1ebdf8514
Autor:
Vicki J. Swier, Katherine A. White, Pedro L. Negrão de Assis, Tyler B. Johnson, Hannah G. Leppert, Mitchell J. Rechtzigel, David K. Meyerholz, Rebecca D. Dodd, Dawn E. Quelle, Rajesh Khanna, Christopher S. Rogers, Jill M. Weimer
Publikováno v:
Clinical and Translational Science, Vol 17, Iss 6, Pp n/a-n/a (2024)
Abstract Cognitive or motor impairment is common among individuals with neurofibromatosis type 1 (NF1), an autosomal dominant tumor‐predisposition disorder. As many as 70% of children with NF1 report difficulties with spatial/working memory, attent
Externí odkaz:
https://doaj.org/article/dcb502b067bb4af5b36833c1c551cbde
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:
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-15 (2022)
Abstract Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death. Mutation
Externí odkaz:
https://doaj.org/article/46f0f879ce5d424c9e32cd5e729fc8d3
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:
Katherine A. White, Hemanth R. Nelvagal, Timothy A. Poole, Bin Lu, Tyler B. Johnson, Samantha Davis, Melissa A. Pratt, Jon Brudvig, Ana B. Assis, Shibi Likhite, Kathrin Meyer, Brian K. Kaspar, Jonathan D. Cooper, Shaomei Wang, Jill M. Weimer
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 497-507 (2021)
Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a m
Externí odkaz:
https://doaj.org/article/dc4e787451044bffb7592fb3419f7757
Autor:
Cynthia Tang, Jimin Han, Sonal Dalvi, Kannan Manian, Lauren Winschel, Stefanie Volland, Celia A. Soto, Chad A. Galloway, Whitney Spencer, Michael Roll, Caroline Milliner, Vera L. Bonilha, Tyler B. Johnson, Lisa Latchney, Jill M. Weimer, Erika F. Augustine, Jonathan W. Mink, Vamsi K. Gullapalli, Mina Chung, David S. Williams, Ruchira Singh
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-18 (2021)
CLN3 disease is characterised by childhood-onset vision loss and premature death. Using patient-derived retinal cells, the authors show that CLN3 is required for retinal pigment epithelium (RPE) cell structure, microvilli and phagocytosis of photorec
Externí odkaz:
https://doaj.org/article/3a26677720f143228deb8043e7d31748
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