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Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.
Brettschneider J, Van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, Safren N, Monteiro MJ, Toledo JB, Elman L, McCluskey L, Irwin DJ, Grossman M, Molina-Porcel L, Lee VM, Trojanowski JQ. Brettschneider J, et al. Among authors: monteiro mj. Acta Neuropathol. 2012 Jun;123(6):825-39. doi: 10.1007/s00401-012-0970-z. Epub 2012 Mar 18. Acta Neuropathol. 2012. PMID: 22426854 Free PMC article.
Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS-FTD-linked UBQLN2 mutations.
Le NT, Chang L, Kovlyagina I, Georgiou P, Safren N, Braunstein KE, Kvarta MD, Van Dyke AM, LeGates TA, Philips T, Morrison BM, Thompson SM, Puche AC, Gould TD, Rothstein JD, Wong PC, Monteiro MJ. Le NT, et al. Among authors: monteiro mj. Proc Natl Acad Sci U S A. 2016 Nov 22;113(47):E7580-E7589. doi: 10.1073/pnas.1608432113. Epub 2016 Nov 9. Proc Natl Acad Sci U S A. 2016. PMID: 27834214 Free PMC article.
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function.
Wu JJ, Cai A, Greenslade JE, Higgins NR, Fan C, Le NTT, Tatman M, Whiteley AM, Prado MA, Dieriks BV, Curtis MA, Shaw CE, Siddique T, Faull RLM, Scotter EL, Finley D, Monteiro MJ. Wu JJ, et al. Among authors: monteiro mj. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15230-15241. doi: 10.1073/pnas.1917371117. Epub 2020 Jun 8. Proc Natl Acad Sci U S A. 2020. PMID: 32513711 Free PMC article.
Global proteomics of Ubqln2-based murine models of ALS.
Whiteley AM, Prado MA, de Poot SAH, Paulo JA, Ashton M, Dominguez S, Weber M, Ngu H, Szpyt J, Jedrychowski MP, Easton A, Gygi SP, Kurz T, Monteiro MJ, Brown EJ, Finley D. Whiteley AM, et al. Among authors: monteiro mj. J Biol Chem. 2021 Jan-Jun;296:100153. doi: 10.1074/jbc.RA120.015960. Epub 2020 Dec 10. J Biol Chem. 2021. PMID: 33277362 Free PMC article.
Serpin neuropathology in the P497S UBQLN2 mouse model of ALS/FTD.
Higgins NR, Greenslade JE, Wu JJ, Miranda E, Galliciotti G, Monteiro MJ. Higgins NR, et al. Among authors: monteiro mj. Brain Pathol. 2021 Sep;31(5):e12948. doi: 10.1111/bpa.12948. Epub 2021 Mar 29. Brain Pathol. 2021. PMID: 33780087 Free PMC article.
197 results