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Misfolded SOD1 and ALS: zeroing in on mitochondria.
Pickles S, Vande Velde C. Pickles S, et al. Amyotroph Lateral Scler. 2012 Jun;13(4):333-40. doi: 10.3109/17482968.2012.648645. Epub 2012 Apr 3. Amyotroph Lateral Scler. 2012. PMID: 22471903 Review.
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Capo-Chichi JM, Boissel S, Brustein E, Pickles S, Fallet-Bianco C, Nassif C, Patry L, Dobrzeniecka S, Liao M, Labuda D, Samuels ME, Hamdan FF, Vande Velde C, Rouleau GA, Drapeau P, Michaud JL. Capo-Chichi JM, et al. Among authors: pickles s. J Med Genet. 2015 May;52(5):303-11. doi: 10.1136/jmedgenet-2014-102952. Epub 2015 Feb 3. J Med Genet. 2015. PMID: 25650066
ALS-linked misfolded SOD1 species have divergent impacts on mitochondria.
Pickles S, Semmler S, Broom HR, Destroismaisons L, Legroux L, Arbour N, Meiering E, Cashman NR, Vande Velde C. Pickles S, et al. Acta Neuropathol Commun. 2016 Apr 27;4(1):43. doi: 10.1186/s40478-016-0313-8. Acta Neuropathol Commun. 2016. PMID: 27121871 Free PMC article.
TNF receptor-associated factor 6 interacts with ALS-linked misfolded superoxide dismutase 1 and promotes aggregation.
Semmler S, Gagné M, Garg P, Pickles SR, Baudouin C, Hamon-Keromen E, Destroismaisons L, Khalfallah Y, Chaineau M, Caron E, Bayne AN, Trempe JF, Cashman NR, Star AT, Haqqani AS, Durcan TM, Meiering EM, Robertson J, Grandvaux N, Plotkin SS, McBride HM, Vande Velde C. Semmler S, et al. Among authors: pickles sr. J Biol Chem. 2020 Mar 20;295(12):3808-3825. doi: 10.1074/jbc.RA119.011215. Epub 2020 Feb 6. J Biol Chem. 2020. PMID: 32029478 Free PMC article.
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F, Briner A, Rodriguez CM, Guo C, Akiyama T, Schmidt HB, Cummings BB, Wyatt DW, Kurylo K, Miller G, Mekhoubad S, Sallee N, Mekonnen G, Ganser L, Rubien JD, Jansen-West K, Cook CN, Pickles S, Oskarsson B, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Shorter J, Myong S, Green EM, Seeley WW, Petrucelli L, Gitler AD. Ma XR, et al. Among authors: pickles s. Nature. 2022 Mar;603(7899):124-130. doi: 10.1038/s41586-022-04424-7. Epub 2022 Feb 23. Nature. 2022. PMID: 35197626 Free PMC article.
Evidence of cerebellar TDP-43 loss of function in FTLD-TDP.
Pickles S, Gendron TF, Koike Y, Yue M, Song Y, Kachergus JM, Shi J, DeTure M, Thompson EA, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Wszolek ZK, Josephs KA, Dickson DW, Petrucelli L, Cook CN, Prudencio M. Pickles S, et al. Acta Neuropathol Commun. 2022 Jul 25;10(1):107. doi: 10.1186/s40478-022-01408-6. Acta Neuropathol Commun. 2022. PMID: 35879741 Free PMC article.
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