Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Caitlin Schafer"'
Autor:
Sarah J. Potter, Li Zhang, Michael Kotliar, Yuehong Wu, Caitlin Schafer, Kurtis Stefan, Leandros Boukas, Dima Qu’d, Olaf Bodamer, Brittany N. Simpson, Artem Barski, Andrew W. Lindsley, Hans T. Bjornsson
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Individuals with Kabuki syndrome present with immunodeficiency; however, how pathogenic variants in the gene encoding the histone-modifying enzyme lysine methyltransferase 2D (KMT2D) lead to immune alterations remain poorly understood. Following up o
Externí odkaz:
https://doaj.org/article/cf9678b7fb124e57af5f1be2328c292d
Autor:
Caitlin Schafer, Vicky Moore, Nupur Dasgupta, Sabzali Javadov, Jeanne F. James, Alexander I. Glukhov, Arnold W. Strauss, Zaza Khuchua
Publikováno v:
Frontiers in Pharmacology, Vol 9 (2018)
Aim: Tafazzin knockdown (TazKD) in mice is widely used to create an experimental model of Barth syndrome (BTHS) that exhibits dilated cardiomyopathy and impaired exercise capacity. Peroxisome proliferator-activated receptors (PPARs) are a group of nu
Externí odkaz:
https://doaj.org/article/4c75ebf4b16a4f1cb7b3fc68f4434c4e
Autor:
Sarah J Potter, Li Zhang, Michael Kotliar, Yuehong Wu, Caitlin Schafer, Kurtis Stefan, Leandros Boukas, Dima Qu’d, Olaf Bodamer, Brittany N Simpson, Artem Barski, Andrew W Lindsley, Hans T Bjornsson
ObjectiveThere is a clinical need to understand how dysregulated thymocyte development, caused by pathogenic variants in the gene encoding the histone-modifying enzyme, lysine methyltransferase 2D (KMT2D), contributes to immune dysfunction, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29c23032151b736380beb719e9be9406
https://doi.org/10.1101/2022.10.04.510662
https://doi.org/10.1101/2022.10.04.510662
Autor:
Tara Daly, Andrew Lindsley, Christina Hung, Olaf Bodamer, Emanuela Gussoni, Arielle Hall, Tatiana Fontelonga, Caitlin Schafer, Alec Wright, Sarah J. Potter
Publikováno v:
The FASEB Journal. 35
Kabuki syndrome (KS) is a rare genetic disorder caused primarily by mutations in the histone modifier genes KMT2D and KDM6A. The genes have broad temporal and spatial expression in many organs, resulting in complex phenotypes observed in KS patients.
Autor:
Mathieu Lupien, Yulia Jitkova, Michael Mullokandov, Helen Loo Yau, Rima Al-awar, James R. Hawley, Rose Hurren, Troy Ketela, S. Kim, Veronique Voisin, Neil MacLean, Daniel D. De Carvalho, Mark D. Minden, Geethu E. Thomas, Val A. Fajardo, Ahmed Aman, Zhenyue Hao, Zaza Khuchua, G. Wei Xu, Gary D. Bader, Richard P. Bazinet, Juan J. Aristizabal Henao, Mingjing Xu, Paul J. LeBlanc, Ayesh K. Seneviratne, Steven M. Claypool, Steven M. Chan, Xiaoming Wang, Atan Gross, Aaron D. Schimmer, Ken D. Stark, David Sharon, Raphaël Chouinard-Watkins, Danny V. Jeyaraju, Caitlin Schafer, Marcela Gronda
Summary Tafazzin (TAZ) is a mitochondrial transacylase that remodels the mitochondrial cardiolipin into its mature form. Through a CRISPR screen, we identified TAZ as necessary for the growth and viability of acute myeloid leukemia (AML) cells. Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43b74e60e809d7c98db8697836fef410
https://europepmc.org/articles/PMC7137093/
https://europepmc.org/articles/PMC7137093/
Autor:
Mindong Ren, John L. Jefferies, Yan Huang, Frédéric M. Vaz, Alexander V. Glukhov, Victoria Moore, Colin K.L. Phoon, Corey Powers, Sabzali Javadov, Arnold W. Strauss, Jeanne James, Zaza Khuchua, Caitlin Schafer
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 12(1). BioMed Central
Orphanet journal of rare diseases, 12(1). BioMed Central
Background The PGC-1α/PPAR axis has been proposed as a potential therapeutic target for several metabolic disorders. The aim was to evaluate the efficacy of the pan-PPAR agonist, bezafibrate, in tafazzin knockdown mice (TazKD), a mouse model of Bart
Autor:
Khuchua Zaza, Danny V. Jeyaraju, Mingjing Xu, Neil MacLean, Ayesh K. Seneviratne, Zhenyue Hao, Juan J. Aristizabal Henao, Rose Hurren, Steven M. Claypool, Xioaming Wang, Paul J. LeBlanc, Raphaël Chouinard-Watkins, Aaron D. Schimmer, Val Fajado, Ken D. Stark, Richard P. Bazinet, G. Wei Xu, Sejin Kim, Marcela Gronda, Caitlin Schafer
Publikováno v:
Blood. 130:788-788
AML cells have unique mitochondrial characteristics with an increased reliance on mitochondrial metabolism and oxidative phosphorylation. To identify new biological vulnerabilities in the mitochondria of AML, we conducted a CRISPR knockout screen. CA