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Timothy R. Hughes
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Journal Articles

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis

Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U. Laverty, Arttu Jolma, Rozita Razavi, Ally H.W. Yang, Mihai Albu, Liam Golding, Anna F. Lee, Ryan Tan, Phillip A. Richmond, Marita Bosticardo, Jonathan H. Rayment, Connie L. Yang, Kyla J. Hildebrand, Rae Brager, Michelle K. Demos, Yu-Lung Lau, Luigi D. Notarangelo, Timothy R. Hughes, Catherine M. Biggs, Stuart E. Turvey
Journal: Journal of Experimental Medicine
J Exp Med (2025) 222 (8): e20241174.
https://doi.org/10.1084/jem.20241174
Published: 20 May 2025
View article titled, A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis
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Includes: Supplementary data
Journal Articles

Molecular chaperone Hsp90 stabilizes Pih1/Nop17 to maintain R2TP complex activity that regulates snoRNA accumulation

Rongmin Zhao, Yoshito Kakihara, Anna Gribun, Jennifer Huen, Guocheng Yang, May Khanna, Michael Costanzo, Renée L. Brost, Charles Boone, Timothy R. Hughes, Christopher M. Yip, Walid A. Houry
Journal: Journal of Cell Biology
J Cell Biol (2008) 180 (3): 563–578.
https://doi.org/10.1083/jcb.200709061
Published: 11 February 2008
View article titled, Molecular chaperone Hsp90 stabilizes Pih1/Nop17 to maintain R2TP complex activity that regulates snoRNA accumulation
Open the PDF for Molecular chaperone Hsp90 stabilizes Pih1/Nop17 to maintain R2TP complex activity that regulates snoRNA accumulation in another window
Includes: Supplementary data