Zobrazeno 1 - 10
of 240
pro vyhledávání: '"Robert T, Dirksen"'
Autor:
Gloria Asantewaa, Emily T. Tuttle, Nathan P. Ward, Yun Pyo Kang, Yumi Kim, Madeline E. Kavanagh, Nomeda Girnius, Ying Chen, Katherine Rodriguez, Fabio Hecht, Marco Zocchi, Leonid Smorodintsev-Schiller, TashJaé Q. Scales, Kira Taylor, Fatemeh Alimohammadi, Renae P. Duncan, Zachary R. Sechrist, Diana Agostini-Vulaj, Xenia L. Schafer, Hayley Chang, Zachary R. Smith, Thomas N. O’Connor, Sarah Whelan, Laura M. Selfors, Jett Crowdis, G. Kenneth Gray, Roderick T. Bronson, Dirk Brenner, Alessandro Rufini, Robert T. Dirksen, Aram F. Hezel, Aaron R. Huber, Joshua Munger, Benjamin F. Cravatt, Vasilis Vasiliou, Calvin L. Cole, Gina M. DeNicola, Isaac S. Harris
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract Cells rely on antioxidants to survive. The most abundant antioxidant is glutathione (GSH). The synthesis of GSH is non-redundantly controlled by the glutamate-cysteine ligase catalytic subunit (GCLC). GSH imbalance is implicated in many dise
Externí odkaz:
https://doaj.org/article/8f2b42686a084979a860c07d826515fd
Autor:
Alessia Di Fonso, Matteo Serano, Miao He, Jennifer Leigh, Giorgia Rastelli, Robert T. Dirksen, Feliciano Protasi, Laura Pietrangelo
Publikováno v:
Biomedicines, Vol 12, Iss 8, p 1651 (2024)
Store-operated Ca2+ entry (SOCE) is a ubiquitous cellular mechanism that cells use to activate extracellular Ca2+ entry when intracellular Ca2+ stores are depleted. In skeletal muscle, SOCE occurs within Ca2+ entry units (CEUs), intracellular junctio
Externí odkaz:
https://doaj.org/article/4c2c10cfb01b430eaffc29f7c0f72aaf
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-9 (2023)
Abstract Physiological muscle contraction requires an intact ligand gating mechanism of the ryanodine receptor 1 (RyR1), the Ca2+-release channel of the sarcoplasmic reticulum. Some mutations impair the gating and thus cause muscle disease. The RyR1
Externí odkaz:
https://doaj.org/article/23ac1cc7d3c046c78954b748accd2f06
Autor:
Yukari Endo, Linda Groom, Alper Celik, Natalia Kraeva, Chang Seok Lee, Sung Yun Jung, Lois Gardner, Marie-Anne Shaw, Susan L. Hamilton, Philip M. Hopkins, Robert T. Dirksen, Sheila Riazi, James J. Dowling
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (2022)
The genetic cause(s) of malignant hyperthermia and exertional heat illness are unknown in approximately 30% of cases. To address this barrier, the authors performed genome sequencing on a large cohort of cases, identifying rare variants in ASPH, a ge
Externí odkaz:
https://doaj.org/article/0f7dda93f47146bdbbcd6f5b2e4e2f5d
Autor:
Thomas N. O’Connor, Jacob G. Kallenbach, Haley M. Orciuoli, Nicole D. Paris, John F. Bachman, Carl J. Johnston, Eric Hernady, Jacqueline P. Williams, Robert T. Dirksen, Joe V. Chakkalakal
Publikováno v:
Skeletal Muscle, Vol 12, Iss 1, Pp 1-15 (2022)
Abstract Background Radiotherapy is commonly used to treat childhood cancers and can have adverse effects on muscle function, but the underlying mechanisms have yet to be fully elucidated. We hypothesized that endurance exercise following radiation t
Externí odkaz:
https://doaj.org/article/ecc26d38809d447f86a80307ebda6bc4
Autor:
Maria de la Luz Garcia-Hernandez, Javier Rangel-Moreno, Maricela Garcia-Castaneda, H. Mark Kenney, Ananta Paine, Michael Thullen, Allen P. Anandarajah, Edward M. Schwarz, Robert T. Dirksen, Christopher T. Ritchlin
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
ObjectiveDendritic Cell-Specific Transmembrane Protein (DC-STAMP) is essential for the formation of fully functional multinucleated osteoclasts. DC-STAMP deficient mice, under physiological conditions, exhibit osteopetrosis and develop systemic autoi
Externí odkaz:
https://doaj.org/article/8f55d9fd829f440daa95fdd03dfcd3fe
Autor:
Karla G. Espinosa, Salma Geissah, Linda Groom, Jonathan Volpatti, Ian C. Scott, Robert T. Dirksen, Mo Zhao, James J. Dowling
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 5 (2022)
Centronuclear myopathy (CNM) is a congenital neuromuscular disorder caused by pathogenic variation in genes associated with membrane trafficking and excitation–contraction coupling (ECC). Bi-allelic autosomal-recessive mutations in striated muscle
Externí odkaz:
https://doaj.org/article/2237b4df52b6438680f7999d6964c747
Autor:
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen
Publikováno v:
Skeletal Muscle, Vol 10, Iss 1, Pp 1-16 (2020)
Abstract The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to
Externí odkaz:
https://doaj.org/article/94e0bf7a004048e1962b07df5b775e8b
Autor:
Hui J. Wang, Chang Seok Lee, Rachel Sue Zhen Yee, Linda Groom, Inbar Friedman, Lyle Babcock, Dimitra K. Georgiou, Jin Hong, Amy D. Hanna, Joseph Recio, Jong Min Choi, Ting Chang, Nadia H. Agha, Jonathan Romero, Poonam Sarkar, Nicol Voermans, M. Waleed Gaber, Sung Yun Jung, Matthew L. Baker, Robia G. Pautler, Robert T. Dirksen, Sheila Riazi, Susan L. Hamilton
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-20 (2020)
Individuals with malignant hyperthermia susceptibility (MHS) suffer from lifethreatening responses to heat. Here the authors demonstrate that adaptive thermogenesis from brown adipose tissue contributes to this heat sensitivity in a preclinical mouse
Externí odkaz:
https://doaj.org/article/1dca01fbb1744c91925d570cd3ada4fa
Autor:
Nika Maani, Nesrin Sabha, Kamran Rezai, Arun Ramani, Linda Groom, Nadine Eltayeb, Faranak Mavandadnejad, Andrea Pang, Giulia Russo, Michael Brudno, Volker Haucke, Robert T. Dirksen, James J. Dowling
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
Myotubular myopathy is a severe muscle disease for which no effective treatment exists. Here, the authors show that tamoxifen ameliorates pathology and extends survival in a mouse model of the disease, and that the effect is mediated via estrogen rec
Externí odkaz:
https://doaj.org/article/7fbfa0258973415ea77898bbaf016988