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Page 1
Pathways disrupted in human ALS motor neurons identified through genetic correction of mutant SOD1.
Kiskinis E, Sandoe J, Williams LA, Boulting GL, Moccia R, Wainger BJ, Han S, Peng T, Thams S, Mikkilineni S, Mellin C, Merkle FT, Davis-Dusenbery BN, Ziller M, Oakley D, Ichida J, Di Costanzo S, Atwater N, Maeder ML, Goodwin MJ, Nemesh J, Handsaker RE, Paull D, Noggle S, McCarroll SA, Joung JK, Woolf CJ, Brown RH, Eggan K. Kiskinis E, et al. Among authors: moccia r. Cell Stem Cell. 2014 Jun 5;14(6):781-95. doi: 10.1016/j.stem.2014.03.004. Epub 2014 Apr 3. Cell Stem Cell. 2014. PMID: 24704492 Free PMC article.
ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair.
Klim JR, Williams LA, Limone F, Guerra San Juan I, Davis-Dusenbery BN, Mordes DA, Burberry A, Steinbaugh MJ, Gamage KK, Kirchner R, Moccia R, Cassel SH, Chen K, Wainger BJ, Woolf CJ, Eggan K. Klim JR, et al. Among authors: moccia r. Nat Neurosci. 2019 Feb;22(2):167-179. doi: 10.1038/s41593-018-0300-4. Epub 2019 Jan 14. Nat Neurosci. 2019. PMID: 30643292 Free PMC article.
Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease.
Burberry A, Suzuki N, Wang JY, Moccia R, Mordes DA, Stewart MH, Suzuki-Uematsu S, Ghosh S, Singh A, Merkle FT, Koszka K, Li QZ, Zon L, Rossi DJ, Trowbridge JJ, Notarangelo LD, Eggan K. Burberry A, et al. Among authors: moccia r. Sci Transl Med. 2016 Jul 13;8(347):347ra93. doi: 10.1126/scitranslmed.aaf6038. Sci Transl Med. 2016. PMID: 27412785 Free PMC article.
Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients.
Mordes DA, Prudencio M, Goodman LD, Klim JR, Moccia R, Limone F, Pietilainen O, Chowdhary K, Dickson DW, Rademakers R, Bonini NM, Petrucelli L, Eggan K. Mordes DA, et al. Among authors: moccia r. Acta Neuropathol Commun. 2018 Jul 4;6(1):55. doi: 10.1186/s40478-018-0555-8. Acta Neuropathol Commun. 2018. PMID: 29973287 Free PMC article.
CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model.
Morera C, Kim J, Paredes-Redondo A, Nobles M, Rybin D, Moccia R, Kowala A, Meng J, Garren S, Liu P, Morgan JE, Muntoni F, Christoforou N, Owens J, Tinker A, Lin YY. Morera C, et al. Among authors: moccia r. Neuromuscul Disord. 2022 Dec;32(11-12):908-922. doi: 10.1016/j.nmd.2022.10.007. Epub 2022 Nov 1. Neuromuscul Disord. 2022. PMID: 36418198 Free article.
DUX4 expression activates JNK and p38 MAP kinases in myoblasts.
Brennan CM, Hill AS, St Andre M, Li X, Madeti V, Breitkopf S, Garren S, Xue L, Gilbert T, Hadjipanayis A, Monetti M, Emerson CP, Moccia R, Owens J, Christoforou N. Brennan CM, et al. Among authors: moccia r. Dis Model Mech. 2022 Nov 1;15(11):dmm049516. doi: 10.1242/dmm.049516. Epub 2022 Oct 31. Dis Model Mech. 2022. PMID: 36196640 Free PMC article.
52 results