Zobrazeno 1 - 10
of 147
pro vyhledávání: '"Christina A Pacak"'
Autor:
Monika Chauhan, Audrey L. Daugherty, Fatemeh (Ellie) Khadir, Ozgun F. Duzenli, Alexandra Hoffman, Jennifer A. Tinklenberg, Peter B. Kang, George Aslanidi, Christina A. Pacak
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-14 (2024)
Abstract Highly efficient adeno associated viruses (AAVs) targeting the central nervous system (CNS) are needed to deliver safe and effective therapies for inherited neurological disorders. The goal of this study was to compare the organ-specific tra
Externí odkaz:
https://doaj.org/article/cafeb29b8b2c4e6c854217899ac3adad
Autor:
Christina A. Pacak, Silveli Suzuki-Hatano, Fatemeh Khadir, Audrey L. Daugherty, Mughil Sriramvenugopal, Bennett J. Gosiker, Peter B. Kang, William Todd Cade
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-13 (2023)
Abstract Introduction The promising potential of adeno-associated virus (AAV) gene delivery strategies to treat genetic disorders continues to grow with an additional three AAV-based therapies recently approved by the Food and Drug Administration and
Externí odkaz:
https://doaj.org/article/f69833ae695641cf9607659cc8cf2067
Autor:
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 8, Pp 1302-1309 (2022)
Abstract Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 1
Externí odkaz:
https://doaj.org/article/9c66bfaff84f41c59607be77930bfc87
Autor:
Kathryn L. Bohnert, Grace Ditzenberger, Adam J. Bittel, Lisa de lasFuentes, Manuela Corti, Christina A. Pacak, Carolyn Taylor, Barry J. Byrne, Dominic N. Reeds, W. Todd Cade
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 74-84 (2021)
Abstract Background Muscle weakness and exercise intolerance contribute to reduced quality of life (QOL) in Barth syndrome (BTHS). Our group previously found that 12 weeks of resistance exercise training (RET) improved muscle strength, however, did n
Externí odkaz:
https://doaj.org/article/bda2cf0580534a32a6f3a6972555f1cf
Autor:
George G. Schweitzer, Grace L. Ditzenberger, Curtis C. Hughey, Brian N. Finck, Michael R. Martino, Christina A. Pacak, Barry J. Byrne, William Todd Cade
Publikováno v:
PLoS ONE, Vol 18, Iss 8 (2023)
Barth syndrome (BTHS) is an X-linked recessive genetic disorder due to mutations in the Tafazzin (TAFAZZIN) gene that lead to cardiac and skeletal muscle mitochondrial dysfunction. Previous studies in humans with BTHS demonstrate that the defects in
Externí odkaz:
https://doaj.org/article/48127967996a463a8828fde44dba47e6
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-13 (2020)
Abstract The limb-girdle muscular dystrophies (LGMDs) are a genetically pleiomorphic class of inherited muscle diseases that are known to share phenotypic features. Selected LGMD genetic subtypes have been studied extensively in affected humans and v
Externí odkaz:
https://doaj.org/article/45335d93ad5b4b75bde679206f18b81e
Autor:
Silveli Suzuki-Hatano, Madhurima Saha, Meghan S. Soustek, Peter B. Kang, Barry J. Byrne, W. Todd Cade, Christina A. Pacak
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 13, Iss , Pp 167-179 (2019)
Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels th
Externí odkaz:
https://doaj.org/article/c10d127f83074a529b4127f37fe0df39
Autor:
W. Todd Cade, Kathryn L. Bohnert, Adam J. Bittel, Shaji J. Chacko, Bruce W. Patterson, Christina A. Pacak, Barry J. Byrne, Hilary J. Vernon, Dominic N. Reeds
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100675- (2020)
Barth syndrome (BTHS) is a rare, X-linked cardiomyopathy that is characterized by abnormalities in glucose and lipid metabolism, with less known regarding amino acid metabolism. This pilot study characterized whole-body arginine kinetics and found lo
Externí odkaz:
https://doaj.org/article/925992a8f07247c387572895a3a12948
Bioprocessing of Human Mesenchymal Stem Cells: From Planar Culture to Microcarrier-Based Bioreactors
Autor:
Ang-Chen Tsai, Christina A. Pacak
Publikováno v:
Bioengineering, Vol 8, Iss 7, p 96 (2021)
Human mesenchymal stem cells (hMSCs) have demonstrated great potential to be used as therapies for many types of diseases. Due to their immunoprivileged status, allogeneic hMSCs therapies are particularly attractive options and methodologies to impro
Externí odkaz:
https://doaj.org/article/2e9f567ff5324359b68bf1e7c64c00e6
Autor:
Seth A. Stafki, Johnnie Turner, Hannah R. Littel, Christine C. Bruels, Don Truong, Ursula Knirsch, Georg M. Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A. Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F. Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R. Lehmann, Vincent Laugel, Shehla Mohammed, Peter B. Kang
Publikováno v:
Pediatric Neurology, 141, 79-86. Elsevier Inc.
Background: Cockayne syndrome (CS) is a DNA repair disorder primarily associated with pathogenic variants in ERCC6 and ERCC8. As in other Mendelian disorders, there are a number of genetically unsolved CS cases. Methods: We ascertained five individua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b02740ae55b971306f4ea081d8bd64ad
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
https://pure.eur.nl/en/publications/0d7abef7-1d59-4528-a48f-276200363e69
