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Neural deficits in a mouse model of PACS1 syndrome are corrected with PACS1- or HDAC6-targeting therapy.
Nat Commun. 2023 Oct 17;14(1):6547. doi: 10.1038/s41467-023-42176-8.
Nat Commun. 2023.
PMID: 37848409
Free PMC article.
Genome-wide kinase-MAM interactome screening reveals the role of CK2A1 in MAM Ca2+ dynamics linked to DEE66.
Thi My Nhung T, Phuoc Long N, Diem Nghi T, Suh Y, Hoang Anh N, Jung CW, Minh Triet H, Jung M, Woo Y, Yoo J, Noh S, Kim SJ, Lee SB, Park S, Thomas G, Simmen T, Mun J, Rhee HW, Kwon SW, Park SK.
Thi My Nhung T, et al.
Proc Natl Acad Sci U S A. 2023 Aug 8;120(32):e2303402120. doi: 10.1073/pnas.2303402120. Epub 2023 Jul 31.
Proc Natl Acad Sci U S A. 2023.
PMID: 37523531
Free PMC article.
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RNA-targeted therapy corrects neuronal deficits in PACS1 syndrome mice.
Villar-Pazos S, Thomas L, Yang Y, Chen K, Lyles JB, Deitch BJ, Ochaba J, Ling K, Powers B, Gingras S, Kordasiewicz HB, Grubisha MJ, Huang YH, Thomas G.
Villar-Pazos S, et al.
Res Sq [Preprint]. 2023 Jan 27:rs.3.rs-2440581. doi: 10.21203/rs.3.rs-2440581/v1.
Res Sq. 2023.
Update in:
Nat Commun. 2023 Oct 17;14(1):6547. doi: 10.1038/s41467-023-42176-8
PMID: 36747781
Free PMC article.
Updated.
Preprint.
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Do PACS1 variants impeding adaptor protein binding predispose to syndromic intellectual disability?
Moller-Hansen A, Hejla D, Lee HK, Lyles JB, Yang Y, Chen K, Li WL, Thomas G, Boerkoel CF.
Moller-Hansen A, et al.
Am J Med Genet A. 2023 Aug;191(8):2181-2187. doi: 10.1002/ajmg.a.63232. Epub 2023 May 4.
Am J Med Genet A. 2023.
PMID: 37141437
Free PMC article.
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