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Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh VS, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: wu q. Ann Clin Transl Neurol. 2024 Sep;11(9):2392-2405. doi: 10.1002/acn3.52154. Epub 2024 Aug 2. Ann Clin Transl Neurol. 2024. PMID: 39095936 Free PMC article.
Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.
Ranta-Aho J, Felice KJ, Jonson PH, Sarparanta J, Palmio J, Tasca G, Sabatelli M, Yvorel C, Harzallah I, Touraine R, Pais L, Austin-Tse CA, Ganesh V, O'Leary MC, Rehm HL, Hehir MK, Subramony S, Wu Q, Udd B, Savarese M. Ranta-Aho J, et al. Among authors: wu q. medRxiv [Preprint]. 2024 Jan 17:2024.01.17.23298671. doi: 10.1101/2024.01.17.23298671. medRxiv. 2024. PMID: 38293186 Free PMC article. Preprint.
Targeted inCITE-Seq Analysis Identifies the Loss of Nuclear TDP-43 in Endothelium as a Mediator of Blood Brain Barrier Signaling Pathway Dysfunction in Neurodegeneration.
Omar OMF, Kimble AL, Cheemala A, Tyburski JD, Pandey S, Wu Q, Reese B, Jellison ER, Li Y, Hao B, Yan R, Murphy PA. Omar OMF, et al. Among authors: wu q. bioRxiv [Preprint]. 2023 Dec 14:2023.12.13.571178. doi: 10.1101/2023.12.13.571178. bioRxiv. 2023. PMID: 38168276 Free PMC article. Preprint.
Discovery of A Chimeric Polyketide Family as Cancer Immunogenic Chemotherapeutic Leads.
Xue D, Xu M, Madden MD, Lian X, Older EA, Pulliam C, Hui Y, Shang Z, Gupta G, Raja MK, Wang Y, Sardi A, Long Y, Chen H, Fan D, Bugni TS, Testerman TL, Wu Q, Li J. Xue D, et al. Among authors: wu q. bioRxiv [Preprint]. 2024 Nov 6:2024.11.05.622009. doi: 10.1101/2024.11.05.622009. bioRxiv. 2024. PMID: 39574732 Free PMC article. Preprint.
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