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Antibody Response to HML-2 May Be Protective in Amyotrophic Lateral Sclerosis.
Garcia-Montojo M, Simula ER, Fathi S, McMahan C, Ghosal A, Berry JD, Cudkowicz M, Elkahloun A, Johnson K, Norato G, Jensen P, James T, Sechi LA, Nath A. Garcia-Montojo M, et al. Among authors: fathi s. Ann Neurol. 2022 Nov;92(5):782-792. doi: 10.1002/ana.26466. Epub 2022 Aug 24. Ann Neurol. 2022. PMID: 36053951 Free PMC article.
TDP-43 proteinopathy in ALS is triggered by loss of ASRGL1 and associated with HML-2 expression.
Garcia-Montojo M, Fathi S, Rastegar C, Simula ER, Doucet-O'Hare T, Cheng YHH, Abrams RPM, Pasternack N, Malik N, Bachani M, Disanza B, Maric D, Lee MH, Wang H, Santamaria U, Li W, Sampson K, Lorenzo JR, Sanchez IE, Mezghrani A, Li Y, Sechi LA, Pineda S, Heiman M, Kellis M, Steiner J, Nath A. Garcia-Montojo M, et al. Among authors: fathi s. Nat Commun. 2024 May 16;15(1):4163. doi: 10.1038/s41467-024-48488-7. Nat Commun. 2024. PMID: 38755145 Free PMC article.
SMARCB1 deletion in atypical teratoid rhabdoid tumors results in human endogenous retrovirus K (HML-2) expression.
Doucet-O'Hare TT, DiSanza BL, DeMarino C, Atkinson AL, Rosenblum JS, Henderson LJ, Johnson KR, Kowalak J, Garcia-Montojo M, Allen SJ, Orr BA, Santi M, Wang T, Fathi S, Lee MH, Sampson K, Li W, Zhuang Z, Nath A. Doucet-O'Hare TT, et al. Among authors: fathi s. Sci Rep. 2021 Jun 18;11(1):12893. doi: 10.1038/s41598-021-92223-x. Sci Rep. 2021. PMID: 34145313 Free PMC article.