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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: shahheydari h. Mol Neurodegener. 2020 Sep 9;15(1):51. doi: 10.1186/s13024-020-00386-4. Mol Neurodegener. 2020. PMID: 32907630 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: shahheydari h. 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.
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: shahheydari h. 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.
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis.
Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB. Dobson-Stone C, et al. Among authors: shahheydari h. Brain. 2020 Mar 1;143(3):783-799. doi: 10.1093/brain/awaa039. Brain. 2020. PMID: 32185393 Free PMC article.
Casein kinase II phosphorylation of cyclin F at serine 621 regulates the Lys48-ubiquitylation E3 ligase activity of the SCF(cyclin F) complex.
Lee A, Rayner SL, De Luca A, Gwee SSL, Morsch M, Sundaramoorthy V, Shahheydari H, Ragagnin A, Shi B, Yang S, Williams KL, Don EK, Walker AK, Zhang KY, Yerbury JJ, Cole NJ, Atkin JD, Blair IP, Molloy MP, Chung RS. Lee A, et al. Among authors: shahheydari h. Open Biol. 2017 Oct;7(10):170058. doi: 10.1098/rsob.170058. Open Biol. 2017. PMID: 29021214 Free PMC article.
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