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TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.
Moujalled D, Grubman A, Acevedo K, Yang S, Ke YD, Moujalled DM, Duncan C, Caragounis A, Perera ND, Turner BJ, Prudencio M, Petrucelli L, Blair I, Ittner LM, Crouch PJ, Liddell JR, White AR. Moujalled D, et al. Among authors: blair i. Hum Mol Genet. 2017 May 1;26(9):1732-1746. doi: 10.1093/hmg/ddx093. Hum Mol Genet. 2017. PMID: 28334913
Phosphorylation of hnRNP K by cyclin-dependent kinase 2 controls cytosolic accumulation of TDP-43.
Moujalled D, James JL, Yang S, Zhang K, Duncan C, Moujalled DM, Parker SJ, Caragounis A, Lidgerwood G, Turner BJ, Atkin JD, Grubman A, Liddell JR, Proepper C, Boeckers TM, Kanninen KM, Blair I, Crouch PJ, White AR. Moujalled D, et al. Among authors: blair i. Hum Mol Genet. 2015 Mar 15;24(6):1655-69. doi: 10.1093/hmg/ddu578. Epub 2014 Nov 19. Hum Mol Genet. 2015. PMID: 25410660
Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
van Rheenen W, Shatunov A, Dekker AM, McLaughlin RL, Diekstra FP, Pulit SL, van der Spek RA, Võsa U, de Jong S, Robinson MR, Yang J, Fogh I, van Doormaal PT, Tazelaar GH, Koppers M, Blokhuis AM, Sproviero W, Jones AR, Kenna KP, van Eijk KR, Harschnitz O, Schellevis RD, Brands WJ, Medic J, Menelaou A, Vajda A, Ticozzi N, Lin K, Rogelj B, Vrabec K, Ravnik-Glavač M, Koritnik B, Zidar J, Leonardis L, Grošelj LD, Millecamps S, Salachas F, Meininger V, de Carvalho M, Pinto S, Mora JS, Rojas-García R, Polak M, Chandran S, Colville S, Swingler R, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Pittman A, Sidle K, Fratta P, Malaspina A, Topp S, Petri S, Abdulla S, Drepper C, Sendtner M, Meyer T, Ophoff RA, Staats KA, Wiedau-Pazos M, Lomen-Hoerth C, Van Deerlin VM, Trojanowski JQ, Elman L, McCluskey L, Basak AN, Tunca C, Hamzeiy H, Parman Y, Meitinger T, Lichtner P, Radivojkov-Blagojevic M, Andres CR, Maurel C, Bensimon G, Landwehrmeyer B, Brice A, Payan CA, Saker-Delye S, Dürr A, Wood NW, Tittmann L, Lieb W, Franke A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Tzourio C, Dartigues JF, Uitterlinden AG, Rivadeneira F, Estrada K, Hofman A, Curtis C, Blauw HM, van der Kooi AJ, de Visser M, Goris A… See abstract for full author list ➔ van Rheenen W, et al. Among authors: blair i. Nat Genet. 2016 Sep;48(9):1043-8. doi: 10.1038/ng.3622. Epub 2016 Jul 25. Nat Genet. 2016. PMID: 27455348 Free PMC article.
Amyotrophic lateral sclerosis-linked UBQLN2 mutants inhibit endoplasmic reticulum to Golgi transport, leading to Golgi fragmentation and ER stress.
Halloran M, Ragagnin AMG, Vidal M, Parakh S, Yang S, Heng B, Grima N, Shahheydari H, Soo KY, Blair I, Guillemin GJ, Sundaramoorthy V, Atkin JD. Halloran M, et al. Among authors: blair i. Cell Mol Life Sci. 2020 Oct;77(19):3859-3873. doi: 10.1007/s00018-019-03394-w. Epub 2019 Dec 4. Cell Mol Life Sci. 2020. PMID: 31802140 Free PMC article.
ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.
Rayner SL, Cheng F, Hogan AL, Grima N, Yang S, Ke YD, Au CG, Morsch M, De Luca A, Davidson JM, Molloy MP, Shi B, Ittner LM, Blair I, Chung RS, Lee A. Rayner SL, et al. Among authors: blair i. Hum Mol Genet. 2021 May 31;30(11):971-984. doi: 10.1093/hmg/ddab073. Hum Mol Genet. 2021. PMID: 33729478
747 results