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Page 1
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.
Mah-Som AY, Daw J, Huynh D, Wu M, Creekmore BC, Burns W, Skinner SA, Holla ØL, Smeland MF, Planes M, Uguen K, Redon S, Bierhals T, Scholz T, Denecke J, Mensah MA, Sczakiel HL, Tichy H, Verheyen S, Blatterer J, Schreiner E, Thies J, Lam C, Spaeth CG, Pena L, Ramsey K, Narayanan V, Seaver LH, Rodriguez D, Afenjar A, Burglen L, Lee EB, Chou TF, Weihl CC, Shinawi MS. Mah-Som AY, et al. Am J Hum Genet. 2023 Nov 2;110(11):1959-1975. doi: 10.1016/j.ajhg.2023.10.007. Epub 2023 Oct 25. Am J Hum Genet. 2023. PMID: 37883978 Free PMC article.
Seeding-competent TDP-43 persists in human patient and mouse muscle.
Lynch EM, Pittman S, Daw J, Ikenaga C, Chen S, Dhavale DD, Jackrel ME, Ayala YM, Kotzbauer P, Ly CV, Pestronk A, Lloyd TE, Weihl CC. Lynch EM, et al. Sci Transl Med. 2024 Nov 27;16(775):eadp5730. doi: 10.1126/scitranslmed.adp5730. Epub 2024 Nov 27. Sci Transl Med. 2024. PMID: 39602508
Inhibition of DNAJ-HSP70 interaction improves strength in muscular dystrophy.
Bengoechea R, Findlay AR, Bhadra AK, Shao H, Stein KC, Pittman SK, Daw JA, Gestwicki JE, True HL, Weihl CC. Bengoechea R, et al. Among authors: daw ja. J Clin Invest. 2020 Aug 3;130(8):4470-4485. doi: 10.1172/JCI136167. J Clin Invest. 2020. PMID: 32427588 Free PMC article.