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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP. Kim HJ, et al. Among authors: kim nc. Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3. Nature. 2013. PMID: 23455423 Free PMC article.
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport.
Freibaum BD, Lu Y, Lopez-Gonzalez R, Kim NC, Almeida S, Lee KH, Badders N, Valentine M, Miller BL, Wong PC, Petrucelli L, Kim HJ, Gao FB, Taylor JP. Freibaum BD, et al. Among authors: kim hj, kim nc. Nature. 2015 Sep 3;525(7567):129-33. doi: 10.1038/nature14974. Epub 2015 Aug 26. Nature. 2015. PMID: 26308899 Free PMC article.
C9orf72 Dipeptide Repeats Impair the Assembly, Dynamics, and Function of Membrane-Less Organelles.
Lee KH, Zhang P, Kim HJ, Mitrea DM, Sarkar M, Freibaum BD, Cika J, Coughlin M, Messing J, Molliex A, Maxwell BA, Kim NC, Temirov J, Moore J, Kolaitis RM, Shaw TI, Bai B, Peng J, Kriwacki RW, Taylor JP. Lee KH, et al. Among authors: kim hj, kim nc. Cell. 2016 Oct 20;167(3):774-788.e17. doi: 10.1016/j.cell.2016.10.002. Cell. 2016. PMID: 27768896 Free PMC article.
Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.
Badders NM, Korff A, Miranda HC, Vuppala PK, Smith RB, Winborn BJ, Quemin ER, Sopher BL, Dearman J, Messing J, Kim NC, Moore J, Freibaum BD, Kanagaraj AP, Fan B, Tillman H, Chen PC, Wang Y, Freeman BB III, Li Y, Kim HJ, La Spada AR, Taylor JP. Badders NM, et al. Among authors: kim hj, kim nc. Nat Med. 2018 May;24(4):427-437. doi: 10.1038/nm.4500. Epub 2018 Mar 5. Nat Med. 2018. PMID: 29505030 Free PMC article.
Author Correction: Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.
Badders NM, Korff A, Miranda HC, Vuppala PK, Smith RB, Winborn BJ, Quemin ER, Sopher BL, Dearman J, Messing J, Kim NC, Moore J, Freibaum BD, Kanagaraj AP, Fan B, Tillman H, Chen PC, Wang Y, Freeman BB 3rd, Li Y, Kim HJ, La Spada AR, Taylor JP. Badders NM, et al. Among authors: kim nc. Nat Med. 2024 Mar;30(3):909-910. doi: 10.1038/s41591-023-02778-7. Nat Med. 2024. PMID: 38191617 No abstract available.
101 results