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Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, Liu G, Haucke V, Moncion T, Yu E, Hindie V, Bléhaut H, Mircher C, Herault Y, Deleuze JF, Rain JC, Simonneau M, Lepagnol-Bestel AM. Viard J, et al. Among authors: huganir rl. Life Sci Alliance. 2022 Aug 1;5(12):e202101205. doi: 10.26508/lsa.202101205. Life Sci Alliance. 2022. PMID: 35914814 Free PMC article.
Mouse models of SYNGAP1-related intellectual disability.
Araki Y, Gerber EE, Rajkovich KE, Hong I, Johnson RC, Lee HK, Kirkwood A, Huganir RL. Araki Y, et al. Among authors: huganir rl. Proc Natl Acad Sci U S A. 2023 Sep 12;120(37):e2308891120. doi: 10.1073/pnas.2308891120. Epub 2023 Sep 5. Proc Natl Acad Sci U S A. 2023. PMID: 37669379 Free PMC article.
Glutamate synapses in human cognitive disorders.
Volk L, Chiu SL, Sharma K, Huganir RL. Volk L, et al. Among authors: huganir rl. Annu Rev Neurosci. 2015 Jul 8;38:127-49. doi: 10.1146/annurev-neuro-071714-033821. Epub 2015 Apr 9. Annu Rev Neurosci. 2015. PMID: 25897873 Review.
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O; S2D Group; Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafrenière RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL. Hamdan FF, et al. Among authors: huganir rl. Am J Hum Genet. 2011 Mar 11;88(3):306-16. doi: 10.1016/j.ajhg.2011.02.001. Epub 2011 Mar 3. Am J Hum Genet. 2011. PMID: 21376300 Free PMC article.
400 results