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Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations.
Konopka A, Whelan DR, Jamali MS, Perri E, Shahheydari H, Toth RP, Parakh S, Robinson T, Cheong A, Mehta P, Vidal M, Ragagnin AMG, Khizhnyak I, Jagaraj CJ, Galper J, Grima N, Deva A, Shadfar S, Nicholson GA, Yang S, Cutts SM, Horejsi Z, Bell TDM, Walker AK, Blair IP, Atkin JD. Konopka A, et al. Among authors: galper j. Mol Neurodegener. 2020 Sep 9;15(1):51. doi: 10.1186/s13024-020-00386-4. Mol Neurodegener. 2020. PMID: 32907630 Free PMC article.
Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.
Lee A, Rayner SL, Gwee SSL, De Luca A, Shahheydari H, Sundaramoorthy V, Ragagnin A, Morsch M, Radford R, Galper J, Freckleton S, Shi B, Walker AK, Don EK, Cole NJ, Yang S, Williams KL, Yerbury JJ, Blair IP, Atkin JD, Molloy MP, Chung RS. Lee A, et al. Among authors: galper j. Cell Mol Life Sci. 2018 Jan;75(2):335-354. doi: 10.1007/s00018-017-2632-8. Epub 2017 Aug 29. Cell Mol Life Sci. 2018. PMID: 28852778 Free PMC article.
Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice.
McCann EP, Fifita JA, Grima N, Galper J, Mehta P, Freckleton SE, Zhang KY, Henden L, Hogan AL, Chan Moi Fat S, Wu SS, Jagaraj CJ, Berning BA, Williams KL, Twine NA, Bauer D, Piguet O, Hodges J, Kwok JBJ, Halliday GM, Kiernan MC, Atkin J, Rowe DB, Nicholson GA, Walker AK, Blair IP, Yang S. McCann EP, et al. Among authors: galper j. J Neurol Neurosurg Psychiatry. 2020 Feb;91(2):162-171. doi: 10.1136/jnnp-2019-321790. Epub 2019 Nov 5. J Neurol Neurosurg Psychiatry. 2020. PMID: 31690696
Theme 3 In vitro experimental models.
Yang S, Wu S, Fifita J, McCann E, Fat SCM, Galper J, Freckleton S, Zhang KY, Blair IP. Yang S, et al. Among authors: galper j. Amyotroph Lateral Scler Frontotemporal Degener. 2019 Nov;20(sup1):135-159. doi: 10.1080/21678421.2019.1646991. Amyotroph Lateral Scler Frontotemporal Degener. 2019. PMID: 31702460
81 results