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C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility.
Fumagalli L, Young FL, Boeynaems S, De Decker M, Mehta AR, Swijsen A, Fazal R, Guo W, Moisse M, Beckers J, Dedeene L, Selvaraj BT, Vandoorne T, Madan V, van Blitterswijk M, Raitcheva D, McCampbell A, Poesen K, Gitler AD, Koch P, Vanden Berghe P, Thal DR, Verfaillie C, Chandran S, Van Den Bosch L, Bullock SL, Van Damme P. Fumagalli L, et al. Among authors: chandran s. Sci Adv. 2021 Apr 9;7(15):eabg3013. doi: 10.1126/sciadv.abg3013. Print 2021 Apr. Sci Adv. 2021. PMID: 33837088 Free PMC article.
HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS.
Braems E, Bercier V, Van Schoor E, Heeren K, Beckers J, Fumagalli L, Dedeene L, Moisse M, Geudens I, Hersmus N, Mehta AR, Selvaraj BT, Chandran S, Ho R, Thal DR, Van Damme P, Swinnen B, Van Den Bosch L. Braems E, et al. Among authors: chandran s. Acta Neuropathol. 2022 Sep;144(3):465-488. doi: 10.1007/s00401-022-02471-y. Epub 2022 Jul 27. Acta Neuropathol. 2022. PMID: 35895140 Free PMC article.
CRISPR/Cas9 screen in human iPSC-derived cortical neurons identifies NEK6 as a novel disease modifier of C9orf72 poly(PR) toxicity.
Guo W, Wang H, Kumar Tharkeshwar A, Couthouis J, Braems E, Masrori P, Van Schoor E, Fan Y, Ahuja K, Moisse M, Jacquemyn M, Furtado Madeiro da Costa R, Gajjar M, Balusu S, Tricot T, Fumagalli L, Hersmus N, Janky R, Impens F, Vanden Berghe P, Ho R, Thal DR, Vandenberghe R, Hegde ML, Chandran S, De Strooper B, Daelemans D, Van Damme P, Van Den Bosch L, Verfaillie C. Guo W, et al. Among authors: chandran s. Alzheimers Dement. 2023 Apr;19(4):1245-1259. doi: 10.1002/alz.12760. Epub 2022 Aug 22. Alzheimers Dement. 2023. PMID: 35993441 Free PMC article.
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Mitochondrial bioenergetic deficits in C9orf72 amyotrophic lateral sclerosis motor neurons cause dysfunctional axonal homeostasis.
Mehta AR, Gregory JM, Dando O, Carter RN, Burr K, Nanda J, Story D, McDade K, Smith C, Morton NM, Mahad DJ, Hardingham GE, Chandran S, Selvaraj BT. Mehta AR, et al. Among authors: chandran s. Acta Neuropathol. 2021 Feb;141(2):257-279. doi: 10.1007/s00401-020-02252-5. Epub 2021 Jan 4. Acta Neuropathol. 2021. PMID: 33398403 Free PMC article.
PolyGA targets the ER stress-adaptive response by impairing GRP75 function at the MAM in C9ORF72-ALS/FTD.
Pilotto F, Schmitz A, Maharjan N, Diab R, Odriozola A, Tripathi P, Yamoah A, Scheidegger O, Oestmann A, Dennys CN, Sinha Ray S, Rodrigo R, Kolb S, Aronica E, Di Santo S, Widmer HR, Charlet-Berguerand N, Selvaraj BT, Chandran S, Meyer K, Zuber B, Goswami A, Weis J, Saxena S. Pilotto F, et al. Among authors: chandran s. Acta Neuropathol. 2022 Nov;144(5):939-966. doi: 10.1007/s00401-022-02494-5. Epub 2022 Sep 19. Acta Neuropathol. 2022. PMID: 36121477 Free PMC article.
Defining novel functions for cerebrospinal fluid in ALS pathophysiology.
Ng Kee Kwong KC, Mehta AR, Nedergaard M, Chandran S. Ng Kee Kwong KC, et al. Among authors: chandran s. Acta Neuropathol Commun. 2020 Aug 20;8(1):140. doi: 10.1186/s40478-020-01018-0. Acta Neuropathol Commun. 2020. PMID: 32819425 Free PMC article. Review.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y, Ahmed S, Sabir MS, Portley MK, Tucci A, Ibáñez K, Shankaracharya FNU, Keagle P, Rossi G, Caroppo P, Tagliavini F, Waldo ML, Johansson PM, Nilsson CF; American Genome Center (TAGC); FALS Sequencing Consortium; Genomics England Research Consortium; International ALS/FTD Genomics Consortium (iAFGC); International FTD Genetics Consortium (IFGC); International LBD Genomics Consortium (iLBDGC); NYGC ALS Consortium; PROSPECT Consortium; Rowe JB, Benussi L, Binetti G, Ghidoni R, Jabbari E, Viollet C, Glass JD, Singleton AB, Silani V, Ross OA, Ryten M, Torkamani A, Tanaka T, Ferrucci L, Resnick SM, Pickering-Brown S, Brady CB, Kowal N, Hardy JA, Van Deerlin V, Vonsattel JP, Harms MB, Morris HR, Ferrari R, Landers JE, Chiò A, Gibbs JR, Dalgard CL, Scholz SW, Traynor BJ. Dewan R, et al. Neuron. 2021 Feb 3;109(3):448-460.e4. doi: 10.1016/j.neuron.2020.11.005. Epub 2020 Nov 26. Neuron. 2021. PMID: 33242422 Free PMC article.
Genetic correlation between amyotrophic lateral sclerosis and schizophrenia.
McLaughlin RL, Schijven D, van Rheenen W, van Eijk KR, O'Brien M, Kahn RS, Ophoff RA, Goris A, Bradley DG, Al-Chalabi A, van den Berg LH, Luykx JJ, Hardiman O, Veldink JH; Project MinE GWAS Consortium; Schizophrenia Working Group of the Psychiatric Genomics Consortium. McLaughlin RL, et al. Nat Commun. 2017 Mar 21;8:14774. doi: 10.1038/ncomms14774. Nat Commun. 2017. PMID: 28322246 Free PMC article.
900 results