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Page 1
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: disanza b. Nat Commun. 2024 May 16;15(1):4163. doi: 10.1038/s41467-024-48488-7. Nat Commun. 2024. PMID: 38755145 Free PMC article.
KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.
Gracia-Diaz C, Perdomo JE, Khan ME, Roule T, Disanza BL, Cajka GG, Lei S, Gagne AL, Maguire JA, Shalem O, Bhoj EJ, Ahrens-Nicklas RC, French DL, Goldberg EM, Wang K, Glessner JT, Akizu N. Gracia-Diaz C, et al. Among authors: disanza bl. Cell Stem Cell. 2024 Mar 7;31(3):288-289. doi: 10.1016/j.stem.2024.02.007. Cell Stem Cell. 2024. PMID: 38458176 No abstract available.
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs.
Gracia-Diaz C, Perdomo JE, Khan ME, Disanza B, Cajka GG, Lei S, Gagne A, Maguire JA, Roule T, Shalem O, Bhoj EJ, Ahrens-Nicklas RC, French D, Goldberg EM, Wang K, Glessner J, Akizu N. Gracia-Diaz C, et al. Among authors: disanza b. bioRxiv [Preprint]. 2023 Jun 26:2023.06.26.546614. doi: 10.1101/2023.06.26.546614. bioRxiv. 2023. Update in: Cell Stem Cell. 2024 Mar 7;31(3):288-289. doi: 10.1016/j.stem.2024.02.007 PMID: 37425875 Free PMC article. Updated. Preprint.
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: disanza bl. Sci Rep. 2021 Jun 18;11(1):12893. doi: 10.1038/s41598-021-92223-x. Sci Rep. 2021. PMID: 34145313 Free PMC article.
Regulation of stem cell function and neuronal differentiation by HERV-K via mTOR pathway.
Wang T, Medynets M, Johnson KR, Doucet-O'Hare TT, DiSanza B, Li W, Xu Y, Bagnell A, Tyagi R, Sampson K, Malik N, Steiner J, Hadegan A, Kowalak J, O'Malley J, Maric D, Nath A. Wang T, et al. Among authors: disanza b. Proc Natl Acad Sci U S A. 2020 Jul 28;117(30):17842-17853. doi: 10.1073/pnas.2002427117. Epub 2020 Jul 15. Proc Natl Acad Sci U S A. 2020. PMID: 32669437 Free PMC article.