Functions and Regulation of RNA Editing by ADARs

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Thomas, H. B., Demain, L. A. M., Cabrera-Orefice, A., Schrauwen, I., Shamseldin, H. E., Rea, A., Bharadwaj, T., Smith, T. B., Oláhová, M., Thompson, K., He, L., Kaur, N., Shukla, A., Abukhalid, M., Ansar, M., Rehman, S., Riazuddin, S., Abdulwahab, F., Smith, J. M., … Newman, W. G. (2025). Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2025.02.005
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Goldstein, O., Shani, S., Gana-Weisz, M., Elkoshi, N., Casey, F., Sun, Y. H., Chandratre, K., Cedarbaum, J. M., Blauwendraat, C., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Orr-Urtreger, A., & Alcalay, R. N. (2025). The effect of polygenic risk score on PD risk and phenotype in LRRK2 G2019S and GBA1 carriers. Journal of Parkinson’s Disease. https://doi.org/10.1177/1877718x241310722
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Piliang, M., Lynde, C., King, B., Mirmirani, P., Sinclair, R., Senna, M., Forman, S., Bordone, L., De La Cueva Dobao, P., Wolk, R., Zwillich, S. H., Tran, H., Wajsbrot, D., Ahmed, H. M., & Takiya, L. (2024). Sustained hair regrowth with continued ritlecitinib treatment through week 48 in patients with alopecia areata with or without early target responses: Post hoc analysis of the ALLEGRO phase 2b/3 trial. Journal of the American Academy of Dermatology. https://doi.org/10.1016/j.jaad.2024.09.064
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Costa, B. L. da, Quinn, P. M. J., Wu, W.-H., Liu, S., Nolan, N. D., Demirkol, A., Tsai, Y.-T., Caruso, S. M., Cabral, T., Wang, N.-K., & Tsang, S. H. (2024). Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy. Cell & Bioscience, 14(1). https://doi.org/10.1186/s13578-024-01243-3
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Yaron-Barir, T. M., Joughin, B. A., Huntsman, E. M., Kerelsky, A., Cizin, D. M., Cohen, B. M., Regev, A., Song, J., Vasan, N., Lin, T.-Y., Orozco, J. M., Schoenherr, C., Sagum, C., Bedford, M. T., Wynn, R. M., Tso, S.-C., Chuang, D. T., Li, L., Li, S. S.-C., … Johnson, J. L. (2024). The intrinsic substrate specificity of the human tyrosine kinome. Nature, 629(8014), 1174–1181. https://doi.org/10.1038/s41586-024-07407-y
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Shani, S., Gana-Weisz, M., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., Goldstein, O., & Orr-Urtreger, A. (2023). MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes, 15(1), 46. https://doi.org/10.3390/genes15010046
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Dubey, S., Chen, Z., Jiang, Y. J., Talis, A., Molotkov, A., Ali, A., Mintz, A., & Momen-Heravi, F. (2024). Small extracellular vesicles (sEVs)-based gene delivery platform for cell-specific CRISPR/Cas9 genome editing. Theranostics, 14(7), 2777–2793. https://doi.org/10.7150/thno.92133
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Shi, P., Murphy, M. R., Aparicio, A. O., Kesner, J. S., Fang, Z., Chen, Z., Trehan, A., Guo, Y., & Wu, X. (2023). Collateral activity of the CRISPR/RfxCas13d system in human cells. Communications Biology, 6(1). https://doi.org/10.1038/s42003-023-04708-2
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Akita, K., Hasegawa, K., Maurer, M. S., Tower-Rader, A., Fifer, M. A., Topkara, V. K., Reilly, M. P., & Shimada, Y. J. (2023). Prediction of cardiac death in patients with hypertrophic cardiomyopathy using RNA-sequencing of plasma small non-coding RNAS. European Heart Journal, 44(Supplement_2). https://doi.org/10.1093/eurheartj/ehad655.1847
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Maroofian, R., Kaiyrzhanov, R., Cali, E., Zamani, M., Zaki, M. S., Ferla, M., Tortora, D., Sadeghian, S., Saadi, S. M., Abdullah, U., Karimiani, E. G., Efthymiou, S., Yeşil, G., Alavi, S., Al Shamsi, A. M., Tajsharghi, H., Abdel-Hamid, M. S., Saadi, N. W., Al Mutairi, F., … Severino, M. (2023). Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain, 146(12), 5031–5043. https://doi.org/10.1093/brain/awad257
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Ford, L., Asok, A., Tripp, A. D., Parro, C., Fitzpatrick, M., de Solis, C. A., Chen, P.-T. Y., Shafiian, N., Fioriti, L., Soni, R. K., & Kandel, E. R. (2023). CPEB3 low-complexity motif regulates local protein synthesis via protein–protein interactions in neuronal ribonucleoprotein granules. Proceedings of the National Academy of Sciences, 120(6). https://doi.org/10.1073/pnas.2114747120
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do Rosario, M. C., Bey, G. R., Nmezi, B., Liu, F., Oranburg, T., Cohen, A. S. A., Coffman, K. A., Brown, M. R., Kiselyov, K., Waisfisz, Q., Flohil, M. T., Siddiqui, S., Rosenfeld, J. A., Iglesias, A., Girisha, K. M., Wolf, N. I., Padiath, Q. S., & Shukla, A. (2022). Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy. Brain, 145(12), 4202–4209. https://doi.org/10.1093/brain/awac295
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El Chehadeh, S., Han, K. A., Kim, D., Jang, G., Bakhtiari, S., Lim, D., Kim, H. Y., Kim, J., Kim, H., Wynn, J., Chung, W. K., Vitiello, G., Cutcutache, I., Page, M., Gecz, J., Harper, K., Han, A., Kim, H. M., Wessels, M., … Um, J. W. (2022). SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice. Nature Communications, 13(1). https://doi.org/10.1038/s41467-022-31566-z
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Wonkam, A., Adadey, S. M., Schrauwen, I., Aboagye, E. T., Wonkam-Tingang, E., Esoh, K., Popel, K., Manyisa, N., Jonas, M., deKock, C., Nembaware, V., Cornejo Sanchez, D. M., Bharadwaj, T., Nasir, A., Everard, J. L., Kadlubowska, M. K., Nouel-Saied, L. M., Acharya, A., Quaye, O., … Leal, S. M. (2022). Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03326-8
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Cheng, F., Zheng, W., Liu, C., Barbuti, P. A., Yu-Taeger, L., Casadei, N., Huebener-Schmid, J., Admard, J., Boldt, K., Junger, K., Ueffing, M., Houlden, H., Sharma, M., Kruger, R., Grundmann-Hauser, K., Ott, T., & Riess, O. (2022). Intronic enhancers of the human SNCA gene predominantly regulate its expression in brain in vivo. Science Advances, 8(47). https://doi.org/10.1126/sciadv.abq6324
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Hopfner, F., Tietz, A. K., Ruf, V. C., Ross, O. A., Koga, S., Dickson, D., Aguzzi, A., Attems, J., Beach, T., Beller, A., Cheshire, W. P., van Deerlin, V., Desplats, P., Deuschl, G., Duyckaerts, C., Ellinghaus, D., Evsyukov, V., Flanagan, M. E., Franke, A., … Höglinger, G. (2022). Common Variants Near ZIC1 and ZIC4 in Autopsy‐Confirmed Multiple System Atrophy. Movement Disorders, 37(10), 2110–2121. Portico. https://doi.org/10.1002/mds.29164
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Lee, E. Y., Dai, Z., Wang, E., & Christiano, A. M. (2022). 064 Functional interrogation of lymphocyte subsets in alopecia areata using single-cell RNA sequencing. Journal of Investigative Dermatology, 142(8), S11. https://doi.org/10.1016/j.jid.2022.05.118
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Wang, E. H. C., Monga, I., Sallee, B. N., Chen, J. C., Abdelaziz, A. R., Perez-Lorenzo, R., Bordone, L. A., & Christiano, A. M. (2022). Primary cicatricial alopecias are characterized by dysregulation of shared gene expression pathways. PNAS Nexus, 1(3). https://doi.org/10.1093/pnasnexus/pgac111
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Hallacli, E., Kayatekin, C., Nazeen, S., Wang, X. H., Sheinkopf, Z., Sathyakumar, S., Sarkar, S., Jiang, X., Dong, X., Di Maio, R., Wang, W., Keeney, M. T., Felsky, D., Sandoe, J., Vahdatshoar, A., Udeshi, N. D., Mani, D. R., Carr, S. A., Lindquist, S., … Khurana, V. (2022). The Parkinson’s disease protein alpha-synuclein is a modulator of processing bodies and mRNA stability. Cell, 185(12), 2035-2056.e33. https://doi.org/10.1016/j.cell.2022.05.008
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Chambers, J. E., Zubkov, N., Kubánková, M., Nixon-Abell, J., Mela, I., Abreu, S., Schwiening, M., Lavarda, G., López-Duarte, I., Dickens, J. A., Torres, T., Kaminski, C. F., Holt, L. J., Avezov, E., Huntington, J. A., George-Hyslop, P. S., Kuimova, M. K., & Marciniak, S. J. (2022). Z-α1-antitrypsin polymers impose molecular filtration in the endoplasmic reticulum after undergoing phase transition to a solid state. Science Advances, 8(14). https://doi.org/10.1126/sciadv.abm2094
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Ma, Y., Dammer, E. B., Felsky, D., Duong, D. M., Klein, H.-U., White, C. C., Zhou, M., Logsdon, B. A., McCabe, C., Xu, J., Wang, M., Wingo, T. S., Lah, J. J., Zhang, B., Schneider, J., Allen, M., Wang, X., Ertekin-Taner, N., Seyfried, N. T., … De Jager, P. L. (2021). Atlas of RNA editing events affecting protein expression in aged and Alzheimer’s disease human brain tissue. Nature Communications, 12(1). https://doi.org/10.1038/s41467-021-27204-9
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