RNA sequencing and proteomics approaches reveal novel deficits in the cortex of Mecp2-deficient mice, a model for Rett syndrome
Open accessAbstract
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the transcriptional regulator MeCP2. Much of our understanding of MeCP2 function is derived from transcriptomic studies with the general assumption that alterations in the transcriptome correlate with proteomic changes. Advances in mass spectrometry-based proteomics have facilitated recent interest in the examination of global protein expression to better understand the biology between transcriptional and translational regulation. We therefore performed the first comprehensive transcriptome-proteome comparison in a RTT mouse model to elucidate RTT pathophysiology, identify potential therapeutic targets, and further our understanding of MeCP2 function. The whole cortex of wild-type and symptomatic RTT male littermates ( n = 4 per genotype) were analyzed using RNA-sequencing and data-independent acquisition liquid chromatography tandem mass spectrometry. Ingenuity® Pathway Analysis was used to identify significantly affected pathways in the transcriptomic and proteomic data sets. Our results indicate these two “omics” data sets supplement one another. In addition to confirming previous works regarding mRNA expression in Mecp2 -deficient animals, the current study identified hundreds of novel protein targets. Several selected protein targets were validated by Western blot analysis. These data indicate RNA metabolism, proteostasis, monoamine metabolism, and cholesterol synthesis are disrupted in the RTT proteome. Hits common to both data sets indicate disrupted cellular metabolism, calcium signaling, protein stability, DNA binding, and cytoskeletal cell structure. Finally, in addition to confirming disrupted pathways and identifying novel hits in neuronal structure and synaptic transmission, our data indicate aberrant myelination, inflammation, and vascular disruption. Intriguingly, there is no evidence of reactive gliosis, but instead, gene, protein, and pathway analysis suggest astrocytic maturation and morphological deficits. This comparative omics analysis supports previous works indicating widespread CNS dysfunction and may serve as a valuable resource for those interested in cellular dysfunction in RTT.
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Elimination of MeCP2 affects the expression of a profound number of pathways in the CNS, making it difficult to pinpoint which pathways play a key role in RTT pathology.
“While Mecp2 mutant mice are an excellent model for RTT, elimination of MeCP2 affects the expression of a profound number of pathways in the CNS, making it difficult to pinpoint which ones play a key role in pathology [77,89,90].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [90]
The Results section (‘Pathway analysis in transcriptome and proteome implicate similar biological pathways’; page unavailable) reports diverse disrupted pathways in the cortex of Mecp2-deficient mice, supporting the claim that MeCP2 loss affects many pathways. The paper does not explicitly say that this makes it difficult to identify which pathways are key to RTT pathology, and its measurements are from cortex rather than the CNS as a whole. (LLM, conf=0.82)
Experimental — accuracy not yet measuredMeCP2 may be defined as a transcriptional modulator.
“Altogether, multiple studies suggest that genes can be activated or repressed by MeCP2, depending upon the cellular context [77,89,90], suggesting that MeCP2 may be defined as a transcriptional modulator.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [90]
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Trapnell, C., Williams, B. A., Pertea, G., Mortazavi, A., Kwan, G., van Baren, M. J., Salzberg, S. L., Wold, B. J., & Pachter, L. (2010) · Nature Biotechnology · doi:10.1038/nbt.1621 · Cited by 15,556 · see citing works
Kim, D., Pertea, G., Trapnell, C., Pimentel, H., Kelley, R., & Salzberg, S. L. (2013) · Genome Biology · doi:10.1186/gb-2013-14-4-r36 · Cited by 12,668 · see citing works
Trapnell, C., Roberts, A., Goff, L. A., Pertea, G. M., Kim, D., Kelley, D. R., Pimentel, H., Salzberg, S. L., Rinn, J. L., & Pachter, L. S. (2012) · Nature Protocols · doi:10.1038/nprot.2012.016 · Cited by 11,930 · see citing works
UniProt: the Universal Protein knowledgebase
Apweiler, R., Bairoch, A., Wu, C. H., Barker, W. C., Boeckmann, B., Ferro, S., Gasteiger, E., Huang, H.-Z., Lopez, R., Magrane, M., et al. (2004) · Nucleic Acids Res. · doi:10.1093/nar/gkh131 · Cited by 8,795 · see citing works
Genome-wide atlas of gene expression in the adult mouse brain
Lein, E. S., Hawrylycz, M. J., Ao, N., Ayres, M., Bensinger, A., Bernard, A., Boe, A. F., Boguski, M. S., Brockway, K. S., Byrnes, E. J., et al. (2007) · Nature · doi:10.1038/nature05453 · Cited by 5,572 · see citing works
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990 · see citing works
Zhang, Y., Chen, K., Sloan, S. A., Bennett, M. L., Scholze, A. R., O'Keeffe, S., Phatnani, H. P., Guarnieri, P., Caneda, C., Ruderisch, N., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1860-14.2014 · Cited by 4,875 · see citing works
UniProt: the universal protein knowledgebase
The UniProt Consortium (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1099 · Cited by 4,436 · see citing works
Insights into the regulation of protein abundance from proteomic and transcriptomic analyses
Vogel, C., & Marcotte, E. M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3185 · Cited by 4,195 · see citing works
2016 update of the PRIDE database and its related tools
Vizcaíno, J. A., Csordás, A., del‐Toro, N., Dianes, J. A., Griss, J., Lavidas, I., Mayer, G., Pérez‐Riverol, Y., Reisinger, F., Ternent, T., et al. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv1145 · Cited by 3,466 · see citing works
ProteomeXchange provides globally coordinated proteomics data submission and dissemination
Vizcaíno, J. A., Deutsch, E. W., Wang, R., Csordás, A., Reisinger, F., Ríos, D., Dianes, J. A., Sun, Z., Farrah, T., Bandeira, N., et al. (2014) · Nature Biotechnology · doi:10.1038/nbt.2839 · Cited by 2,735 · see citing works
The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2016 update
Afgan, E., Baker, D., van den Beek, M., Blankenberg, D. J., Bouvier, D., Čech, M., Chilton, J. M., Clements, D., Coraor, N., Eberhard, C., et al. (2016) · Nucleic Acids Research · doi:10.1093/nar/gkw343 · Cited by 2,150 · see citing works
Spatio-temporal transcriptome of the human brain
Kang, H. J., Kawasawa, Y. I., Cheng, F., Zhu, Y., Xu, X., Li, M., Sousa, A. M. M., Pletikos, M., Meyer, K. A., Sedmak, G., et al. (2011) · Nature · doi:10.1038/nature10523 · Cited by 2,084 · see citing works
MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
Chahrour, M., Jung, S. Y., Shaw, C., Zhou, X., Wong, S. T. C., Qin, J., & Zoghbi, H. Y. (2008) · Science · doi:10.1126/science.1153252 · Cited by 1,823 · see citing works
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
Chen, R. Z., Akbarian, S., Tudor, M., & Jaenisch, R. (2001) · Nature Genetics · doi:10.1038/85906 · Cited by 1,275 · see citing works
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265 · see citing works
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203 · see citing works
Regulation of cellular iron metabolism
Wang, J., & Pantopoulos, K. (2011) · Biochemical Journal · doi:10.1042/bj20101825 · Cited by 986 · see citing works
MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system
Mellén, M., Ayata, P., Dewell, S., Kriaucionis, S., & Heintz, N. (2012) · Cell · doi:10.1016/j.cell.2012.11.022 · Cited by 943 · see citing works
Cell type- and brain region-resolved mouse brain proteome
Sharma, K., Schmitt, S., Bergner, C. G., Tyanova, S., Kannaiyan, N., Manrique-Hoyos, N., Kongi, K., Cantuti, L., Hanisch, U.-K., Philips, M.-A., et al. (2015) · Nature Neuroscience · doi:10.1038/nn.4160 · Cited by 871 · see citing works
Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State
Skene, P. J., Illingworth, R. S., Webb, S., Kerr, A. R. W., James, K. D., Turner, D. J., Andrews, R., & Bird, A. P. (2010) · Molecular Cell · doi:10.1016/j.molcel.2010.01.030 · Cited by 688 · see citing works
Leblond, C. S., Nava, C., Polge, A., Gauthier, J., Huguet, G., Lumbroso, S., Giuliano, F., Stordeur, C., Depienne, C., Mouzat, K., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004580 · Cited by 630 · cited 2× · see citing works
“In our data set, Auts2 and Foxp1 are significantly increased by 0.49 and 0.29 fold, respectively, while Shank1–3 are all decreased (Shank1: − 0.53 fold, Shank2: − 0.34 fold, Shank3: − 0.37 fold) (Table 1, Additional file 1).”
BackgroundInfluentialComparative analysis of proteome and transcriptome variation in mouse
Ghazalpour, A., Bennett, B., Petyuk, V. A., Orozco, L., Hagopian, R., Mungrue, I. N., Farber, C. R., Sinsheimer, J., Kang, H. M., Furlotte, N., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001393 · Cited by 624 · see citing works
Coetzee, T., Fujita, N., Dupree, J. L., Shi, R., Blight, A. R., Suzuki, K., Suzuki, K., & Popko, B. (1996) · Cell · doi:10.1016/s0092-8674(00)80093-8 · Cited by 624 · see citing works
Wild-type microglia arrest pathology in a mouse model of Rett syndrome
Derecki, N. C., Cronk, J. C., Lu, Z., Xu, E., Abbott, S. B. G., Guyenet, P. G., & Kipnis, J. (2012) · Nature · doi:10.1038/nature10907 · Cited by 607 · see citing works
Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome
Horike, S., Cai, S., Miyano, M., Cheng, J., & Kohwi-shigematsu, T. (2004) · Nature Genetics · doi:10.1038/ng1491 · Cited by 585 · see citing works
Disruption of DNA-methylation-dependent long gene repression in Rett syndrome
Gabel, H. W., Kinde, B., Stroud, H., Gilbert, C. S., Harmin, D. A., Kastan, N. R., Hemberg, M., Ebert, D. H., & Greenberg, M. E. (2015) · Nature · doi:10.1038/nature14319 · Cited by 569 · see citing works
Molecular taxonomy of major neuronal classes in the adult mouse forebrain
Sugino, K., Hempel, C. M., Miller, M. N., Hattox, A. M., Shapiro, P., Wu, C., Huang, Z. J., & Nelson, S. B. (2006) · Nature Neuroscience · doi:10.1038/nn1618 · Cited by 521 · see citing works
MeCP2 Controls Excitatory Synaptic Strength by Regulating Glutamatergic Synapse Number
Chao, H.-T., Zoghbi, H. Y., & Rosenmund, C. (2007) · Neuron · doi:10.1016/j.neuron.2007.08.018 · Cited by 511 · see citing works
RNA-seq differential expression studies: more sequence or more replication?
Liu, Y., Zhou, J., & White, K. P. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btt688 · Cited by 497 · see citing works
A role for glia in the progression of Rett’s syndrome
Lioy, D. T., Garg, S. K., Monaghan, C. E., Raber, J., Foust, K. D., Kaspar, B. K., Hirrlinger, P. G., Kirchhoff, F., Bissonnette, J. M., Ballas, N., et al. (2011) · Nature · doi:10.1038/nature10214 · Cited by 496 · see citing works
Integrative analysis of the cancer transcriptome
Rhodes, D. R., & Chinnaiyan, A. M. (2005) · Nature Genetics · doi:10.1038/ng1570 · Cited by 490 · see citing works
Young, J. I., Hong, E. P., Castle, J. C., Crespo-Barreto, J., Bowman, A. B., Rose, M. F., Kang, D., Richman, R., Johnson, J. M., Berget, S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0507856102 · Cited by 484 · see citing works
Non–cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology
Ballas, N., Lioy, D. T., Grunseich, C., & Mandel, G. (2009) · Nature Neuroscience · doi:10.1038/nn.2275 · Cited by 466 · see citing works
Kishi, N., & Macklis, J. D. (2004) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2004.07.006 · Cited by 445 · see citing works
Integrated Analysis of Transcriptomic and Proteomic Data
Haider, S., & Pal, R. (2013) · Current Genomics · doi:10.2174/1389202911314020003 · Cited by 432 · see citing works
Topoisomerases facilitate transcription of long genes linked to autism
King, I. F. G., Yandava, C., Mabb, A. M., Hsiao, J. S., Huang, H., Pearson, B. L., Calabrese, J. M., Starmer, J., Parker, J. S., Magnuson, T., et al. (2013) · Nature · doi:10.1038/nature12504 · Cited by 430 · see citing works
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
Huang, H.-S., Allen, J. A., Mabb, A. M., King, I. F., Miriyala, J., Taylor-Blake, B., Sciaky, N., Dutton, J. W., Lee, H.-M., Chen, X., et al. (2012) · Nature · doi:10.1038/nature10726 · Cited by 387 · see citing works
Yasui, D. H., Peddada, S., Bieda, M. C., Vallero, R. O., Hogart, A., Nagarajan, R. P., Thatcher, K. N., Farnham, P., & LaSalle, J. M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707442104 · Cited by 381 · see citing works
Haack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.10.019 · Cited by 360 · see citing works
Genetic basis of proteome variation in yeast
Foss, E. J., Radulovic, D., Shaffer, S. A., Ruderfer, D. M., Bedalov, A., Goodlett, D. R., & Kruglyak, L. (2007) · Nature Genetics · doi:10.1038/ng.2007.22 · Cited by 358 · see citing works
Self-citationBosio, A., Binczek, E., & Stoffel, W. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.23.13280 · Cited by 347 · see citing works
MeCP2 binds to 5hmc enriched within active genes and accessible chromatin in the nervous system
Mellén, M., Ayata, P., Dewell, S. B., Kriaučionis, S., & Heintz, N. (2013) · Epigenetics & Chromatin · doi:10.1186/1756-8935-6-s1-p52 · Cited by 345 · see citing works
Tudor, M., Akbarian, S., Chen, R. Z., & Jaenisch, R. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.242566899 · Cited by 343 · see citing works
Cuddapah, V. A., Pillai, R. B., Shekar, K. V., Lane, J. B., Motil, K. J., Skinner, S. A., Tarquinio, D. C., Glaze, D. G., McGwin, G., Kaufmann, W. E., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-102113 · Cited by 311 · see citing works
Self-citationChen, L., Chen, K., Lavery, L. A., Baker, S. A., Shaw, C. A., Li, W., & Zoghbi, H. Y. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1505909112 · Cited by 301 · see citing works
Rett Syndrome Astrocytes Are Abnormal and Spread MeCP2 Deficiency through Gap Junctions
Maezawa, I., Swanberg, S. E., Harvey, D. J., LaSalle, J. M., & Jin, L. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.0324-09.2009 · Cited by 283 · see citing works
Neuropathology of Rett Syndrome
Armstrong, D. D. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200090901 · Cited by 282 · see citing works
Precursor Acquisition Independent From Ion Count: How to Dive Deeper into the Proteomics Ocean
Panchaud, A., Scherl, A., Shaffer, S. A., von Haller, P. D., Kulasekara, H. D., Miller, S. I., & Goodlett, D. R. (2009) · Analytical Chemistry · doi:10.1021/ac900888s · Cited by 264 · see citing works
Self-citationChapleau, C. A., Calfa, G. D., Lane, M. C., Albertson, A. J., Larimore, J. L., Kudo, S., Armstrong, D. L., Percy, A. K., & Pozzo‐Miller, L. D. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.05.001 · Cited by 253 · see citing works
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
Ben-Shachar, S., Chahrour, M., Thaller, C., Shaw, C. A., & Zoghbi, H. Y. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp181 · Cited by 253 · see citing works
Conditions and Constraints for Astrocyte Calcium Signaling in the Hippocampal Mossy Fiber Pathway
Haustein, M. D., Kracun, S., Lu, X., Shih, T., Jackson‐Weaver, O., Tong, X., Xu, J. P., Yang, X. W., O’Dell, T. J., Marvin, J. S., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.02.041 · Cited by 249 · see citing works
Jiang, R., Diaz-Castro, B., Looger, L. L., & Khakh, B. S. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.3693-15.2016 · Cited by 237 · see citing works
De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment
Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M.-O., Joober, R., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.09.017 · Cited by 235 · see citing works
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
Buchovecky, C. M., Turley, S. D., Brown, H. M., Kyle, S. M., McDonald, J. G., Liu, B., Pieper, A. A., Huang, W., Katz, D. M., Russell, D. W., et al. (2013) · Nature Genetics · doi:10.1038/ng.2714 · Cited by 234 · see citing works
PTEN tumor suppressor associates with NHERF proteins to attenuate PDGF receptor signaling
Takahashi, Y., Morales, F. C., Kreimann, E. L., & Georgescu, M. (2006) · The EMBO Journal · doi:10.1038/sj.emboj.7600979 · Cited by 220 · see citing works
S-adenosylmethionine metabolism and liver disease
Mato, J. M., Martínez‐Chantar, M. L., & Lu, S. C.-L. (2013) · Annals of Hepatology · doi:10.1016/s1665-2681(19)31355-9 · Cited by 215 · see citing works
Motil, K. J., Caeg, E., Barrish, J. O., Geerts, S., Lane, J. B., Percy, A. K., Annese, F., McNair, L., Skinner, S. A., Lee, H., et al. (2012) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0b013e31824b6159 · Cited by 210 · see citing works
Neuropathology of Rett syndrome
Armstrong, D. D. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200082401 · Cited by 207 · see citing works
Inter‐α‐trypsin inhibitor proteoglycan family
Bost, F., Mehrpour, M., & Martin, J. (1998) · European Journal of Biochemistry · doi:10.1046/j.1432-1327.1998.2520339.x · Cited by 206 · see citing works
Colantuoni, C., Jeon, O., Hyder, K., Chenchik, A. A., Khimani, A. H., Narayanan, V., Hoffman, E. P., Kaufmann, W. E., Naidu, S., & Pevsner, J. (2001) · Neurobiology of Disease · doi:10.1006/nbdi.2001.0428 · Cited by 203 · see citing works
Nguyen, M. V. C., Du, F., Felice, C. A., Shan, X., Nigam, A., Mandel, G., Robinson, J. K., & Ballas, N. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.1316-12.2012 · Cited by 199 · see citing works
Cronk, J. C., Derecki, N. C., Ji, E., Xu, Y., Lampano, A. E., Smirnov, I., Baker, W., Norris, G. T., Marin, I., Coddington, N., et al. (2015) · Immunity · doi:10.1016/j.immuni.2015.03.013 · Cited by 199 · see citing works
Pathways of Epoxyeicosatrienoic Acid Metabolism in Endothelial Cells
Fang, X., Kaduce, T. L., Weintraub, N. L., Harmon, S. D., Teesch, L. M., Morisseau, C. H. P., Thompson, D. A., Hammock, B. D., & Spector, A. A. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m011761200 · Cited by 198 · see citing works
Calcium binding chaperones of the endoplasmic reticulum.
Coe, H., & Michalak, M. (2009) · PubMed · Cited by 189 · see citing works
Up-regulation of glucocorticoid-regulated genes in a mouse model of Rett syndrome
Nuber, U. A., Kriaučionis, S., Roloff, T. C., Guy, J., Selfridge, J., Steinhoff, C., Schulz, R., Lipkowitz, B., Ropers, H., Holmes, M. C., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi229 · Cited by 185 · see citing works
Wu, H., Tao, J., Chen, P. J., Shahab, A., Ge, W., Hart, R. P., Ruan, X., Ruan, Y., & Sun, Y. E. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1005595107 · Cited by 180 · see citing works
Jung, B. P., Jugloff, D. G. M., Zhang, G., Logan, R., Brown, S., & Eubanks, J. H. (2003) · Journal of Neurobiology · doi:10.1002/neu.10201 · Cited by 177 · see citing works
Wang, P., Lin, M., Pedrosa, E., Hrabovsky, A., Zhang, Z., Guo, W., Lachman, H. M., & Zheng, D. (2015) · Molecular Autism · doi:10.1186/s13229-015-0048-6 · Cited by 169 · see citing works
Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy
Friedman, J., Roze, E. F., Abdenur, J. E., Chang, R. C., Gasperini, S., Saletti, V., Wali, G. M., Eiroa, H. D., Neville, B. G. R., Felice, A. E., et al. (2011) · Annals of Neurology · doi:10.1002/ana.22685 · Cited by 157 · see citing works
The role of AUTS2 in neurodevelopment and human evolution
Oksenberg, N., & Ahituv, N. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.08.001 · Cited by 153 · see citing works
Schafer, D. P., Heller, C. T., Gunner, G., Heller, M., Gordon, C., Hammond, T., Wolf, Y., Jung, S., & Stevens, B. (2016) · eLife · doi:10.7554/elife.15224 · Cited by 147 · see citing works
Deng, V., Matagne, V., Banine, F., Frerking, M. E., Ohliger-Frerking, P., Budden, S. S., Pevsner, J., Dissen, G. A., Sherman, L. S., & Ojeda, S. R. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm007 · Cited by 146 · see citing works
Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome
Urdinguio, R. G., Fernández, A. F., López‐Nieva, P., Rossi, S., Huertas, D., Kulis, M., Liu, C., Croce, C. M., Calin, G. A., & Esteller, M. (2010) · Epigenetics · doi:10.4161/epi.5.7.13055 · Cited by 143 · see citing works
MeCP2 Binds Cooperatively to Its Substrate and Competes with Histone H1 for Chromatin Binding Sites
Ghosh, R. P., Horowitz-Scherer, R. A., Tv, N., Shlyakhtenko, L. S., & Woodcock, C. L. F. (2010) · Molecular and Cellular Biology · doi:10.1128/mcb.00379-10 · Cited by 142 · see citing works
Phosphorylated FTY720 promotes astrocyte migration through sphingosine‐1‐phosphate receptors
Müllershausen, F., Craveiro, L. M., Shin, Y., Cortés-Cros, M., Bassilana, F., Osinde, M., Wishart, W. L., Guerini, D., Thallmair, M., Schwab, M. E., et al. (2007) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2007.04629.x · Cited by 140 · see citing works
Experimental models of Rett syndrome based on Mecp2 dysfunction
Calfa, G. D., Percy, A. K., & Pozzo‐Miller, L. D. (2011) · Experimental Biology and Medicine · doi:10.1258/ebm.2010.010261 · Cited by 132 · see citing works
Astrocyte calcium signaling and epilepsy
Carmignoto, G., & Haydon, P. G. (2012) · Glia · doi:10.1002/glia.22318 · Cited by 129 · see citing works
Ure, K., Lü, H., Wang, W., Ito, A., Wu, Z., He, L.-J., Sztainberg, Y., Chen, W., Tang, J., & Zoghbi, H. Y. (2016) · eLife · doi:10.7554/elife.14198 · Cited by 128 · see citing works
Cell-Type-Specific Repression by Methyl-CpG-Binding Protein 2 Is Biased toward Long Genes
Sugino, K., Hempel, C. M., Okaty, B. W., Arnson, H. A., Kato, S., Dani, V. S., & Nelson, S. B. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.2674-14.2014 · Cited by 127 · see citing works
Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets
Jordan, C., Li, H. H., Kwan, H. C. K., & Francke, U. (2007) · BMC Medical Genetics · doi:10.1186/1471-2350-8-36 · Cited by 126 · see citing works
Heanue, T. A., & Pachnis, V. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0602152103 · Cited by 121 · see citing works
Tzingounis, A. V., Kobayashi, M., Takamatsu, K., & Nicoll, R. A. (2007) · Neuron · doi:10.1016/j.neuron.2007.01.011 · Cited by 120 · see citing works
DNA methylation in the gene body influences MeCP2-mediated gene repression
Kinde, B., Wu, D. Y., Greenberg, M. E., & Gabel, H. W. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1618737114 · Cited by 118 · see citing works
Evidence for disruption of sphingolipid metabolism in schizophrenia
Narayan, S., Head, S. R., Gilmartin, T. J., Dean, B., & Thomas, E. A. (2008) · Journal of Neuroscience Research · doi:10.1002/jnr.21822 · Cited by 114 · see citing works
Mecp2-Null Mice Provide New Neuronal Targets for Rett Syndrome
Urdinguio, R. G., Lopez‐Serra, L., López‐Nieva, P., Alaminos, M., Díaz‐Uriarte, R., Fernández, A. F., & Esteller, M. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003669 · Cited by 113 · see citing works
Jentarra, G. M., Olfers, S., Rice, S. G., Srivastava, N., Homanics, G. E., Blue, M. E., Naidu, S., & Narayanan, V. (2010) · BMC Neuroscience · doi:10.1186/1471-2202-11-19 · Cited by 111 · see citing works
Nadler, J. J., Zou, F., Huang, H., Moy, S. S., Lauder, J. M., Crawley, J. N., Threadgill, D. W., Wright, F. A., & Magnuson, T. (2006) · Genetics · doi:10.1534/genetics.106.061481 · Cited by 108 · see citing works
Cerebrospinal fluid biogenic amines and biopterin in rett syndrome
Zoghbi, H. Y., Milstien, S., Butler, I. J., Smith, E. O., Kaufman, S., Glaze, D. G., & Percy, A. K. (1989) · Annals of Neurology · doi:10.1002/ana.410250109 · Cited by 105 · see citing works
Chapleau, C. A., Larimore, J. L., Theibert, A. B., & Pozzo‐Miller, L. D. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9027-6 · Cited by 104 · see citing works
Gibson, J. H., Slobedman, B., Kurup, H. K. N., Williamson, S. L., Minchenko, D., El‐Osta, A., Stern, J. L., & Christodoulou, J. (2010) · BMC Neuroscience · doi:10.1186/1471-2202-11-53 · Cited by 101 · see citing works
Peddada, S., Yasui, D. H., & LaSalle, J. M. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl124 · Cited by 99 · see citing works
F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome
Felice, C. D., Signorini, C., Durand, T., Oger, C., Guy, A., Bultel‐Poncé, V., Galano, J., Ciccoli, L., Leoncini, S., D’Esposito, M., et al. (2011) · Journal of Lipid Research · doi:10.1194/jlr.p017798 · Cited by 91 · see citing works
Oligodendrocyte Lineage Cells Contribute Unique Features to Rett Syndrome Neuropathology
Nguyen, M. V. C., Felice, C. A., Du, F., Covey, M. V., Robinson, J. K., Mandel, G., & Ballas, N. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.2657-13.2013 · Cited by 91 · see citing works
Rett syndrome – biological pathways leading from MECP2 to disorder phenotypes
Ehrhart, F., Coort, S. L., Cirillo, E., Smeets, E., Evelo, C. T., & Curfs, L. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0545-5 · Cited by 89 · see citing works
Segatto, M., Trapani, L., Di Tunno, I., Sticozzi, C., Valacchi, G., Hayek, J., & Pallottini, V. (2014) · PLoS ONE · doi:10.1371/journal.pone.0104834 · Cited by 80 · see citing works
Dysregulation of the long non-coding RNA transcriptome in a Rett syndrome mouse model
Petazzi, P., Sandoval, J., Szczęsna, K., Jorge-Torres, O. C., Roa, L., Sayols, S., Gómez, A., Huertas, D., & Esteller, M. (2013) · RNA Biology · doi:10.4161/rna.24286 · Cited by 79 · see citing works
Miyake, K., Hirasawa, T., Soutome, M., Itoh, M., Goto, Y., Endoh, K., Takahashi, K., Kudo, S., Nakagawa, T., Yokoi, S., et al. (2011) · BMC Neuroscience · doi:10.1186/1471-2202-12-81 · Cited by 77 · see citing works
Zachariah, R. M., Olson, C. O., Ezeonwuka, C. D., & Rastegar, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0049763 · Cited by 74 · see citing works
Scavenger receptor B1 post-translational modifications in Rett syndrome
Sticozzi, C., Belmonte, G., Pecorelli, A., Cervellati, F., Leoncini, S., Signorini, C., Ciccoli, L., De Felice, C., Hayek, J., & Valacchi, G. (2013) · FEBS Letters · doi:10.1016/j.febslet.2013.05.042 · Cited by 70 · see citing works
Misregulation of alternative splicing in a mouse model of Rett syndrome
Li, R., Dong, Q., Yuan, X., Zeng, X., Gao, Y., Chiao, C., Li, H., Zhao, X., Keles, S., Wang, Z., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1006129 · Cited by 67 · see citing works
Rett Syndrome: Model of Neurodevelopmental Disorders
Percy, A. K., & Lane, J. B. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200090301 · Cited by 66 · see citing works
Subclinical Inflammatory Status in Rett Syndrome
Cortelazzo, A., Felice, C. D., Guerranti, R., Signorini, C., Leoncini, S., Pecorelli, A., Zollo, G., Landi, C., Valacchi, G., Ciccoli, L., et al. (2014) · Mediators of Inflammation · doi:10.1155/2014/480980 · Cited by 66 · see citing works
Molina, J. R., Morales, F. C., Hayashi, Y., Aldape, K., & Georgescu, M. (2010) · Cancer Research · doi:10.1158/0008-5472.can-10-1271 · Cited by 63 · see citing works
Zhao, D., Mokhtari, R., Pedrosa, E., Birnbaum, R., Zheng, D., & Lachman, H. M. (2017) · Molecular Autism · doi:10.1186/s13229-017-0134-z · Cited by 63 · see citing works
Park, M. J., Aja, S., Li, Q., Degano, A. L., Penati, J., Zhuo, J., Roe, C. R., & Ronnett, G. V. (2014) · PLoS ONE · doi:10.1371/journal.pone.0109527 · Cited by 62 · see citing works
Justice, M. J., Buchovecky, C. M., Kyle, S. M., & Djukic, A. (2013) · Rare Diseases · doi:10.4161/rdis.27265 · Cited by 61 · see citing works
Regulation of Neuronal Function by Ras-GRF Exchange Factors
Feig, L. A. (2011) · Genes & Cancer · doi:10.1177/1947601911408077 · Cited by 59 · see citing works
Veeraragavan, S., Wan, Y.-W., Connolly, D. R., Hamilton, S. M., Ward, C. S., Soriano, S., Pitcher, M. R., McGraw, C. M., Huang, S. G., Green, J. R., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw178 · Cited by 59 · see citing works
Weinman, E. J., Steplock, D., Zhang, M. Y., Biswas, R., Bloch, R. J., & Shenolikar, S. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.132423 · Cited by 58 · see citing works
OxInflammation in Rett syndrome
Pecorelli, A., Cervellati, C., Hayek, J., & Valacchi, G. (2016) · The International Journal of Biochemistry & Cell Biology · doi:10.1016/j.biocel.2016.07.015 · Cited by 56 · see citing works
Ohba, C., Nabatame, S., Iijima, Y., Nishiyama, K., Tsurusaki, Y., Nakashima, M., Miyake, N., Tanaka, F., Ozono, K., Saitsu, H., et al. (2014) · Journal of Human Genetics · doi:10.1038/jhg.2014.18 · Cited by 55 · see citing works
Chromatin context and ncRNA highlight targets of MeCP2 in brain
Maxwell, S., Pelka, G. J., Tam, P., & El‐Osta, A. (2013) · RNA Biology · doi:10.4161/rna.26921 · Cited by 53 · see citing works
Lisowski, P., Wieczorek, M., Gościk, J., Juszczak, G. R., Stankiewicz, A. M., Zwierzchowski, L., & Swiergiel, A. H. (2012) · Journal of Molecular Neuroscience · doi:10.1007/s12031-012-9850-1 · Cited by 53 · see citing works
Sharma, K., Singh, J., Pillai, P. P., & Frost, E. E. (2015) · Journal of Molecular Neuroscience · doi:10.1007/s12031-015-0597-3 · Cited by 51 · see citing works
Li, X., & Lytton, J. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.564450 · Cited by 51 · see citing works
Neurobiologically-based treatments in Rett syndrome: opportunities and challenges
Kaufmann, W. E., Stallworth, J. L., Everman, D. B., & Skinner, S. A. (2016) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1229181 · Cited by 50 · see citing works
Viola, A., Saywell, V., Villard, L., Cozzone, P. J., & Lutz, N. W. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000157 · Cited by 49 · see citing works
Temporal and regional differences in the olfactory proteome as a consequence of MeCP2 deficiency
Matarazzo, V. A., & Ronnett, G. V. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0307083101 · Cited by 49 · see citing works
Yamaguchi, Y., Shirai, Y., Matsubara, T., Sanse, K., Kuriyama, M., Oshiro, N., Yoshino, K., Yonezawa, K., Ono, Y., & Saito, N. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m606992200 · Cited by 48 · see citing works
Insulinotropic treatments exacerbate metabolic syndrome in mice lacking MeCP2 function
Pitcher, M. R., Ward, C. S., Arvide, E. M., Chapleau, C. A., Pozzo‐Miller, L. D., Hoeflich, A., Sivaramakrishnan, M., Saenger, S., Metzger, F., & Neul, J. L. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt111 · Cited by 46 · see citing works
Lee, A., Rayfield, A. J., Hryciw, D. H., Aung, T., Wang, D., Pow, D. V., Bröer, S., Yun, C. C., & Poronnik, P. (2006) · Glia · doi:10.1002/glia.20439 · Cited by 46 · see citing works
Hall, E. A., Nahorski, M. S., Murray, L. M., Shaheen, R., Perkins, E., Dissanayake, K. N., Kristaryanto, Y., Jones, R. A., Vogt, J., Rivagorda, M., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.008 · Cited by 45 · see citing works
Vascular Dysfunction in a Mouse Model of Rett Syndrome and Effects of Curcumin Treatment
Panighini, A., Duranti, E., Santini, F., Maffei, M., Pizzorusso, T., Funel, N., Taddei, S., Bernardini, N., Ippolito, C., Virdis, A., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0064863 · Cited by 45 · see citing works
Balogh, A., Cadel, S., Foulon, T., Picart, R., der Garabedian, A., Rousselet, A., Tougard, C., & Cohen, P. (1998) · Journal of Cell Science · doi:10.1242/jcs.111.2.161 · Cited by 44 · see citing works
Regulation and roles of neuronal diacylglycerol kinases: a lipid perspective
Tu‐Sekine, B., & Raben, D. M. (2011) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238.2011.577761 · Cited by 44 · see citing works
Disturbed biopterin and folate metabolism in the Qdpr ‐deficient mouse
Xu, F., Sudo, Y., Sanechika, S., Yamashita, J., Shimaguchi, S., Honda, S.-I., Sumi‐Ichinose, C., Mori‐Kojima, M., Nakata, R., Furuta, T., et al. (2014) · FEBS Letters · doi:10.1016/j.febslet.2014.09.004 · Cited by 43 · see citing works
Babbio, F., Castiglioni, I., Cassina, C., Gariboldi, M. B., Pistore, C., Magnani, E., Badaracco, G., Monti, E., & Bonapace, I. M. (2012) · BMC Cell Biology · doi:10.1186/1471-2121-13-19 · Cited by 41 · see citing works
Lin, P., Nicholls, L. E., Assareh, H., Fang, Z., Amos, T. G., Edwards, R. J., Assareh, A. A., & Voineagu, I. (2016) · BMC Genomics · doi:10.1186/s12864-016-2746-7 · Cited by 41 · see citing works
Norris, J. L., Farrow, M. A., Gutierrez, D. B., Palmer, L. D., Muszynski, N. D., Sherrod, S. D., Pino, J. C., Allen, J. L., Spraggins, J. M., Lubbock, A. L. R., et al. (2017) · Journal of Proteome Research · doi:10.1021/acs.jproteome.6b01004 · Cited by 40 · see citing works
Schilling, K., & Oberdick, J. (2009) · The Cerebellum · doi:10.1007/s12311-009-0124-6 · Cited by 38 · see citing works
Liu, Y., Zhao, D., Dong, R., Yang, X., Zhang, Y., Tammimies, K., Uddin, M. J., Scherer, S. W., & Gai, Z. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37050 · Cited by 37 · see citing works
Brunton, H., Goodarzi, A. A., Noon, A. T., Shrikhande, A., Hansen, R. S., Jeggo, P. A., & Shibata, A. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.05289-11 · Cited by 37 · see citing works
Ohgami, M., Takahashi, N. K., Yamasaki, M., & Fukui, T. (2003) · Biochemical Pharmacology · doi:10.1016/s0006-2952(02)01656-8 · Cited by 37 · see citing works
Astrocyte Transcriptome from the Mecp2308-Truncated Mouse Model of Rett Syndrome
Delépine, C., Nectoux, J., Letourneur, F., Baud, V., Chelly, J., Billuart, P., & Bienvenu, T. (2015) · NeuroMolecular Medicine · doi:10.1007/s12017-015-8363-9 · Cited by 37 · see citing works
Zhang, Q., Wang, Y., Zhang, W., Chen, X., Wang, J., Chen, J., & Luo, W. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-9761-1 · Cited by 36 · see citing works
Membrane cerebral lipids in Rett syndrome
Lekman, A. Y., Hagberg, B. A., & Svennerholm, L. T. (1991) · Pediatric Neurology · doi:10.1016/0887-8994(91)90082-v · Cited by 35 · see citing works
Rett syndrome: An autoimmune disease?
Felice, C. D., Leoncini, S., Signorini, C., Cortelazzo, A., Rovero, P., Durand, T., Ciccoli, L., Papini, A. M., & Hayek, J. (2016) · Autoimmunity Reviews · doi:10.1016/j.autrev.2016.01.011 · Cited by 33 · see citing works
Mitochondrial Malic Enzyme 3 Is Important for Insulin Secretion in Pancreatic β-Cells
Hasan, N. M., Longacre, M. J., Stoker, S. W., Kendrick, M. A., & MacDonald, M. J. (2015) · Molecular Endocrinology · doi:10.1210/me.2014-1249 · Cited by 33 · see citing works
Brain glucose metabolism in Rett Syndrome
Villemagne, P. M., Naidu, S., Villemagne, V. L., Yaster, M., Wagner, H. N., Harris, J. C., Moser, H. W., Johnston, M. V., Dannals, R. F., & Wong, D. F. (2002) · Pediatric Neurology · doi:10.1016/s0887-8994(02)00399-5 · Cited by 31 · see citing works
Eating practices, nutritional status and constipation in patients with Rett syndrome
Schwartzman, F., Vítolo, M. R., Schwartzman, J. S., & de Morais, M. B. (2008) · Arquivos de Gastroenterologia · doi:10.1590/s0004-28032008000400005 · Cited by 30 · see citing works
Altered microtubule dynamics in Mecp2‐deficient astrocytes
Nectoux, J., Florian, C., Delepine, C., Bahi‐Buisson, N., Khelfaoui, M., Reibel, S., Chelly, J., & Bienvenu, T. (2012) · Journal of Neuroscience Research · doi:10.1002/jnr.23001 · Cited by 29 · see citing works
Bergo, A., Strollo, M., Gai, M., Barbiero, I., Stefanelli, G., Sertic, S., Gigli, C. C., Cunto, F. D., Kilstrup‐Nielsen, C., & Landsberger, N. (2014) · Journal of Biological Chemistry · doi:10.1074/jbc.m114.608125 · Cited by 26 · see citing works
Sun, C., Zheng, J., Cheng, S., Feng, D., & He, J. (2013) · Molecules and Cells · doi:10.1007/s10059-013-0014-0 · Cited by 26 · see citing works
Heaven, M. R., Funk, A. J., Cobbs, A. L., Haffey, W. D., Norris, J. L., McCullumsmith, R. E., & Greis, K. D. (2015) · Journal of Mass Spectrometry · doi:10.1002/jms.3716 · Cited by 26 · see citing works
Self-citationLopez, A. M., Chuang, J.-C., Posey, K. S., & Turley, S. D. (2017) · Brain Research · doi:10.1016/j.brainres.2016.10.021 · Cited by 24 · see citing works
Braun, S. B., Kottwitz, D., & Nuber, U. A. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr602 · Cited by 24 · see citing works
FOXG1mutations in Japanese patients with the congenital variant of Rett syndrome
Takahashi, S., Matsumoto, N., Okayama, A., Suzuki, N., Araki, A., Okajima, K., Tanaka, H., & Miyamoto, A. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01819.x · Cited by 24 · see citing works
The dynamics of methionine supply and demand during early development
McBreairty, L. E., & Bertolo, R. F. P. (2016) · Applied Physiology, Nutrition, and Metabolism · doi:10.1139/apnm-2015-0577 · Cited by 22 · see citing works
Unraveling the neuroprotective mechanisms of PrP C in excitotoxicity
Llorens, F., & del Rı́o, J. A. (2012) · Prion · doi:10.4161/pri.19639 · Cited by 21 · see citing works
Progress in Realizing the Promise of Microarrays in Systems Neurobiology
Dougherty, J. D., & Geschwind, D. H. (2005) · Neuron · doi:10.1016/j.neuron.2005.01.007 · Cited by 20 · see citing works
Goubau, C., Devriendt, K., der Aa, N. V., Crepel, A., Wieczorek, D., Kleefstra, T., Willemsen, M. H., Rauch, A. M., Tzschach, A., de Ravel, T. J. L., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.86 · Cited by 20 · see citing works
Proteomic analysis of the Rett syndrome experimental model mecp2Q63X mutant zebrafish.
Cortelazzo, A., Pietri, T., Felice, C. D., Leoncini, S., Guerranti, R., Signorini, C., Timperio, A., Zolla, L., Ciccoli, L., & Hayek, J. (2017) · Journal of Proteomics · doi:10.1016/j.jprot.2016.12.010 · Cited by 19 · see citing works
Phosphorylation of EBP50 negatively regulates β-PIX-dependent Rac1 activity in anoikis
Jy, C., Lin, Y. Y., & Jou, T. (2012) · Cell Death and Differentiation · doi:10.1038/cdd.2012.4 · Cited by 18 · see citing works
A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant
Cortelazzo, A., Guerranti, R., Felice, C. D., Signorini, C., Leoncini, S., Pecorelli, A., Landi, C., Bini, L., Montomoli, B., Sticozzi, C., et al. (2013) · Mediators of Inflammation · doi:10.1155/2013/438653 · Cited by 13 · see citing works
WDR 45 Mutation in Atypical Rett Syndrome with Brain Iron Accumulation
Crisp, S. J., Meyer, E., Gregory, A., Archer, H. L., Hayflick, S. J., Kurian, M. A., & de Silva, R. N. (2015) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12120 · Cited by 5 · see citing works
Uzturk, B. G., Jin, S., Rubin, B. S., Bartolome, C. L., & Feig, L. A. (2015) · Journal of Endocrinology · doi:10.1530/joe-15-0304 · Cited by 4 · see citing works
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Rett syndrome: a neurological disorder with metabolic components
Kyle, S. M., Vashi, N., & Justice, M. J. (2018) · Open Biology · doi:10.1098/rsob.170216 · Cited by 213 · see citing works
MeCP2 represses enhancers through chromosome topology-associated DNA methylation
Clemens, A. W., Wu, D. Y., Moore, J., Christian, D. L., Zhao, G., & Gabel, H. W. (2019) · Molecules and Cells · doi:10.1016/j.molcel.2019.10.033 · Cited by 80 · see citing works
The importance of long non-coding RNAs in neuropsychiatric disorders
Hosseini, E., Bagheri‐Hosseinabadi, Z., Toma, I. D., Jafarisani, M., & Sadeghi, I. (2019) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2019.07.004 · Cited by 70 · see citing works
Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice
Xing, X., Zhang, J., Wu, K., Cao, B., Li, X., Jiang, F., Hu, Z., Xia, K., & Li, J. (2019) · Scientific Reports · doi:10.1038/s41598-019-39434-5 · Cited by 71 · see citing works
Rodrigues, D. C., Mufteev, M., Weatheritt, R. J., Djuric, U., Ha, K., Ross, P. J., Wei, W., Piekna, A., Sartori, M. A., Byres, L., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2020.02.107 · Cited by 67 · see citing works
Luoni, M., Giannelli, S., Indrigo, M. T., Niro, A., Massimino, L., Iannielli, A., Passeri, L., Russo, F., Morabito, G., Calamita, P., et al. (2020) · eLife · doi:10.7554/elife.52629 · Cited by 65 · see citing works
MeCP2 Is an Epigenetic Factor That Links DNA Methylation with Brain Metabolism
Vuu, Y. M., Roberts, C.-T., & Rastegar, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24044218 · Cited by 53 · see citing works
Glial Dysfunction in MeCP2 Deficiency Models: Implications for Rett Syndrome
Kahanovitch, U., Patterson, K. C., Hernandez, R. D., & Olsen, M. L. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20153813 · Cited by 50 · see citing works
Self-citationSegatto, M., Tonini, C., Pfrieger, F. W., Trezza, V., & Pallottini, V. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20133317 · Cited by 51 · see citing works
Do Astrocytes Play a Role in Intellectual Disabilities?
Cresto, N., Pillet, L., Billuart, P., & Rouach, N. (2019) · Trends in Neurosciences · doi:10.1016/j.tins.2019.05.011 · Cited by 49 · see citing works
Gogliotti, R. G., Fisher, N. M., Stansley, B. J., Jones, C. K., Lindsley, C. W., Conn, P. J., & Niswender, C. M. (2018) · Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.117.246991 · Cited by 46 · see citing works
MECP2 and the biology of MECP2 duplication syndrome
D’Mello, S. R. (2021) · Journal of Neurochemistry · doi:10.1111/jnc.15331 · Cited by 41 · see citing works
Scuderi, S., Altobelli, G. G., Cimini, V., Coppola, G., & Vaccarino, F. M. (2021) · Stem Cell Reports · doi:10.1016/j.stemcr.2020.12.019 · Cited by 40 · see citing works
Sun, J., Osenberg, S., Irwin, A., Ma, L.-H., Lee, N., Xiang, Y., Li, F., Wan, Y.-W., Park, I.-H., Maletic-Savatic, M., et al. (2023) · Cell Reports · doi:10.1016/j.celrep.2022.111942 · Cited by 37 · see citing works
Molecular Systems Biology of Neurodevelopmental Disorders, Rett Syndrome as an Archetype
Faúndez, V., Wynne, M. E., Crocker, A. J., & Tarquinio, D. C. (2019) · Frontiers in Integrative Neuroscience · doi:10.3389/fnint.2019.00030 · Cited by 33 · see citing works
Sanfeliu, A., Hokamp, K., Gill, M., & Tropea, D. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00278 · Cited by 34 · see citing works
Proteomic profiling reveals mitochondrial alterations in Rett syndrome
Cicaloni, V., Pecorelli, A., Tinti, L., Rossi, M., Benedusi, M., Cervellati, C., Spiga, O., Santucci, A., Hayek, J., Salvini, L., et al. (2020) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2020.05.014 · Cited by 32 · see citing works
A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance
Lee, H.-M., Kuijer, M. B., Blanes, N. R., Clark, E. P., Aita, M., Arjona, L. G., Kokot, A., Sciaky, N., Simon, J. M., Bhatnagar, S., et al. (2020) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-020-09332-3 · Cited by 29 · see citing works
Aldosary, M. S., AlBakheet, A., Aldhalaan, H., Almass, R., Alsagob, M., Al‐Younes, B., AlQuait, L., Mustafa, O. M., Bulbul, M., Rahbeeni, Z. A., et al. (2020) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2019.0192 · Cited by 27 · see citing works
Quantitative proteomic analysis of Rett iPSC-derived neuronal progenitors
Varderidou‐Minasian, S., Hinz, L., Hagemans, D., Posthuma, D., Altelaar, M. A. F., & Heine, V. M. (2020) · Molecular Autism · doi:10.1186/s13229-020-00344-3 · Cited by 30 · see citing works
Mecp2 knock-out astrocytes affect synaptogenesis by interleukin 6 dependent mechanisms
Albizzati, E., Breccia, M., Florio, E., Cabasino, C., Postogna, F. M., Grassi, R., Boda, E., Battaglia, C., De Palma, C., De Quattro, C., et al. (2024) · iScience · doi:10.1016/j.isci.2024.109296 · Cited by 25 · see citing works
Abraham, J. R., Szoko, N., & Natowicz, M. R. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-05542-4_12 · Cited by 25 · see citing works
Neier, K. E., Grant, T. E., Palmer, R. L., Chappell, D., Hakam, S. M., Yasui, K. M., Rolston, M., Settles, M. L., Hunter, S. S., Madany, A. M., et al. (2021) · Communications Biology · doi:10.1038/s42003-021-02915-3 · Cited by 23 · see citing works
Protein Interaction Network Biology in Neuroscience
Basu, A., Ash, P. E. A., Wolozin, B. L., & Emili, A. (2020) · PROTEOMICS · doi:10.1002/pmic.201900311 · Cited by 22 · see citing works
Forrest, M. P., Santos, M. D., Piguel, N. H., Wang, Y., Hawkins, N. A., Bagchi, V. A., Dionisio, L. E., Yoon, S., Simkin, D., Martin‐de‐Saavedra, M. D., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-36087-x · Cited by 21 · see citing works
Ji, S., Ye, L., Yuan, J., Feng, Q., & Dai, J. (2023) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.64.13.15 · Cited by 20 · see citing works
Transcriptomic and Epigenomic Landscape in Rett Syndrome
Marano, D., Fioriniello, S., D’Esposito, M., & Ragione, F. D. (2021) · Biomolecules · doi:10.3390/biom11070967 · Cited by 24 · see citing works
Yang, D. J., Wu, X., Yao, Y., Duan, M., Wang, X., Li, G., Guo, A., Wu, M., Liu, Y., Zheng, J., et al. (2024) · Nature Neuroscience · doi:10.1038/s41593-024-01838-6 · Cited by 19 · see citing works
Carbonell, A. U., Freire‐Cobo, C., Deyneko, I. V., Dobariya, S., Erdjument‐Bromage, H., Clipperton‐Allen, A. E., Page, D. T., Neubert, T. A., & Jordan, B. A. (2023) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2023.1152562 · Cited by 18 · see citing works
Patterson, K. C., Kahanovitch, U., Gonçalves, C. M., Hablitz, J. J., Staruschenko, A., Mulkey, D. K., & Olsen, M. L. (2020) · Glia · doi:10.1002/glia.23898 · Cited by 19 · see citing works
Self-citationMeCP2 in central nervous system glial cells: current updates
Sharma, K., Singh, J., Frost, E. E., & Pillai, P. P. (2018) · Acta Neurobiologiae Experimentalis · doi:10.21307/ane-2018-007 · Cited by 18 · see citing works
Sharma, K., Singh, J., & Pillai, P. P. (2018) · Journal of Molecular Neuroscience · doi:10.1007/s12031-018-1112-4 · Cited by 18 · see citing works
The Metallome as a Link Between the “Omes” in Autism Spectrum Disorders
Stanton, J. E., Malijauskaite, S., McGourty, K., & Grabrucker, A. M. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.695873 · Cited by 16 · see citing works
Haase, F., Singh, R., Gloss, B., Tam, P., & Gold, W. A. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231911125 · Cited by 18 · see citing works
Zlatic, S. A., Duong, D. M., Gadalla, K. K. E., Murage, B., Ping, L., Shah, R., Fink, J. J., Khwaja, O., Swanson, L. C., Şahin, M., et al. (2022) · iScience · doi:10.1016/j.isci.2022.104966 · Cited by 16 · see citing works
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants
Zlatic, S. A., Werner, E., Surapaneni, V., Lee, C. E., Gokhale, A., Singleton, K. S., Duong, D. M., Crocker, A. J., Gentile, K. L., Middleton, F. A., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad154 · Cited by 15 · see citing works
Mao, Y., Evans, E. E., Mishra, V. A., Balch, L., Eberhardt, A., Zauderer, M., & Gold, W. A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22179465 · Cited by 15 · see citing works
Marballi, K. K., & MacDonald, J. L. (2021) · Neurochemistry International · doi:10.1016/j.neuint.2021.105076 · Cited by 14 · see citing works
Blood–Brain Barrier Integrity Is Perturbed in a Mecp2-Null Mouse Model of Rett Syndrome
Pepe, G., Fioriniello, S., Marracino, F., Capocci, L., Maglione, V., D’Esposito, M., Pardo, A. D., & Ragione, F. D. (2023) · Biomolecules · doi:10.3390/biom13040606 · Cited by 14 · see citing works
WGCNA Identifies Translational and Proteasome-Ubiquitin Dysfunction in Rett Syndrome
Haase, F., Gloss, B., Tam, P., & Gold, W. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22189954 · Cited by 12 · see citing works
Lipi, B., Langhnoja, J., & Prakash, P. (2018) · Experimental Brain Research · doi:10.1007/s00221-018-5363-7 · Cited by 14 · see citing works
Pascual‐Alonso, A., Xiol, C., Smirnov, D., Kopajtich, R., Prokisch, H., & Armstrong, J. (2023) · Human Genomics · doi:10.1186/s40246-023-00532-1 · Cited by 13 · see citing works
mRNA isoform balance in neuronal development and disease
LaForce, G. R., Philippidou, P., & Schaffer, A. E. (2022) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1762 · Cited by 14 · see citing works
Cortelazzo, A., Felice, C. D., Guy, J., Timperio, A. M., Zolla, L., Guerranti, R., Leoncini, S., Signorini, C., Durand, T., & Hayek, J. (2019) · Journal of Proteomics · doi:10.1016/j.jprot.2019.103537 · Cited by 13 · see citing works
Buch, L., Langhnoja, J., & Pillai, P. P. (2018) · Experimental Brain Research · doi:10.1007/s00221-018-5415-z · Cited by 13 · see citing works
Albizzati, E., Florio, E., Miramondi, F., Sormonta, I., Landsberger, N., & Frasca, A. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.823060 · Cited by 12 · see citing works
Biochemical and molecular determinants of the subclinical inflammatory mechanisms in Rett syndrome
Cordone, V. (2024) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2024.110046 · Cited by 12 · see citing works
A proteomics approach to further highlight the altered inflammatory condition in Rett syndrome
Cicaloni, V., Pecorelli, A., Cordone, V., Tinti, L., Rossi, M., Hayek, J., Salvini, L., Tinti, C., & Valacchi, G. (2020) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2020.108660 · Cited by 12 · see citing works
Krishnaraj, R. R., Haase, F., Coorey, B., Luca, E., Wong, I., Boyling, A., Ellaway, C., Christodoulou, J., & Gold, W. A. (2019) · Human Mutation · doi:10.1002/humu.23887 · Cited by 11 · see citing works
Identification of a transcriptional signature found in multiple models of ASD and related disordersPreprint
Thudium, S., Palozola, K. C., L'Her, É., & Korb, E. (2022) · Genome Research · doi:10.1101/gr.276591.122 · Cited by 10 · see citing works
Murasawa, H., Kobayashi, H., Imai, J., Nagase, T., Soumiya, H., & Fukumitsu, H. (2021) · PLoS ONE · doi:10.1371/journal.pone.0258830 · Cited by 10 · see citing works
Frankel, E., Podder, A., Sharifi, M., Pillai, R., Belnap, N., Ramsey, K. M., Dodson, J., Venugopal, P., Brzezinski, M., Llaci, L., et al. (2023) · Cells · doi:10.3390/cells12101437 · Cited by 9 · see citing works
Neural precursor cells rescue symptoms of Rett syndrome by activation of the Interferon γ pathway
Frasca, A., Miramondi, F., Butti, E., Indrigo, M., Balbontin Arenas, M., Postogna, F. M., Piffer, A., Bedogni, F., Pizzamiglio, L., Cambria, C., et al. (2024) · EMBO Molecular Medicine · doi:10.1038/s44321-024-00144-9 · Cited by 9 · see citing works
Nomura, J., Zuko, A., Kishimoto, K., Mutsumine, H., Maegawa, H., Fukatsu, K., Nomura, Y., Liu, X., Nakai, N., Maeda, C., et al. (2025) · Cell Genomics · doi:10.1016/j.xgen.2025.100877 · Cited by 11 · see citing works
Vermudez, S. A. D., Buch, A. B., Weiss, K., Gogliotti, R. G., & Niswender, C. M. (2022) · Neuropharmacology · doi:10.1016/j.neuropharm.2022.109022 · Cited by 7 · see citing works
A clinical case–control comparison of epidermal innervation density in Rett syndrome
Symons, F. J., Barney, C. C., Byiers, B. J., McAdams, B. D., Foster, S. X. Y. L., Feyma, T. J., Wendelschafer‐Crabb, G., & Kennedy, W. R. (2019) · Brain and Behavior · doi:10.1002/brb3.1285 · Cited by 8 · see citing works
Garrick, J. M., Cole, T. B., Bammler, T. K., MacDonald, J. W., Marsillach, J., Furlong, C. E., & Costa, L. G. (2021) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2021.107010 · Cited by 8 · see citing works
Multi‐omics in MECP2 duplication syndrome patients and carriers
Pascual‐Alonso, A., Xiol, C., Smirnov, D., Kopajtich, R., Prokisch, H., & Armstrong, J. (2024) · European Journal of Neuroscience · doi:10.1111/ejn.16389 · Cited by 7 · see citing works
Astrocyte: A Foe or a Friend in Intellectual Disability-Related Diseases
Wang, B., Zou, L., Li, M., & Zhou, L. (2022) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2022.877928 · Cited by 7 · see citing works
Rett syndrome: from the involved gene(s) to treatment
Frasca, A., Kilstrup‐Nielsen, C., & Landsberger, N. (2022) · Elsevier eBooks · doi:10.1016/b978-0-323-85654-6.00002-2 · Cited by 6 · see citing works
Çetin, S., Uysal, S., Girgin, D., Alp, A., Kiliç, E., & Çıray, R. O. (2025) · Neuroglia · doi:10.3390/neuroglia6030034 · Cited by 4 · see citing works
Ling, X., Mei, W., Xiao, Z., Luo, Z., Zhuang, J., Li, Q., Du, S., Zheng, S., & Zhu, P. (2020) · Annals of Palliative Medicine · doi:10.21037/apm.2020.03.20 · Cited by 4 · see citing works
4,8-dicarboxyl-8,9-iridoid-1-glycoside Promotes Neural Stem Cell Differentiation Through MeCP2
Wang, W., Liu, Z., Jing, B., Mai, H., Jiao, H., Guan, T., Chen, D., Kong, J., & Pan, T. (2022) · Dose-Response · doi:10.1177/15593258221112959 · Cited by 4 · see citing works
MeCP2 at the crossroads of hypoxia, oxidative stress, and gene regulation in Rett syndrome
Huang, J. L., Sharifi, O., Yasui, D. H., & LaSalle, J. M. (2025) · Epigenomics · doi:10.1080/17501911.2025.2568303 · Cited by 3 · see citing works
Interpreting the rich dialogue between astrocytes and neurons: An overview in Rett syndrome
Postogna, F. M., Roggero, O. M., Biella, F., & Frasca, A. (2025) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2025.111386 · Cited by 4 · see citing works
Gioiosa, S., Gasparini, S., Presutti, C., Rinaldi, A., Castrignanò, T., & Mannironi, C. (2025) · Scientific Reports · doi:10.1038/s41598-025-86114-8 · Cited by 3 · see citing works
miR126-mediated alteration of vascular integrity in Rett syndrome
Osaki, T., Wan, Z., Haratani, K., Jin, Y., Campisi, M., Barbie, D., Kamm, R., & Sur, M. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03492-9 · Cited by 3 · see citing works
RettDb: the Rett syndrome omics database to navigate the Rett syndrome genomic landscape
Cillari, N., Neri, G., Pisanti, N., Milazzo, P., & Borello, U. (2024) · Database · doi:10.1093/database/baae109 · Cited by 2 · see citing works
Kwan, V., Rosa, E., Xing, S., Murtaza, N., Singh, K., Holzapfel, N. T., Berg, T., Lu, Y., & Singh, K. K. (2020) · Journal of Proteome Research · doi:10.1021/acs.jproteome.0c00896 · Cited by 3 · see citing works
Is Cholesterol the Key Factor for Autism?
Lingwood, C. A. (2020) · American Journal of Biomedical Science & Research · doi:10.34297/ajbsr.2020.07.001206 · Cited by 2 · see citing works
Tommasini, D., Fox, R. G., Ngo, K. J., Hinman, J. D., & Fogel, B. L. (2023) · iScience · doi:10.1016/j.isci.2023.106358 · Cited by 2 · see citing works
Carbonell, A. U., Freire‐Cobo, C., Deyneko, I. V., Erdjument‐Bromage, H., Clipperton‐Allen, A. E., Rasmusson, R. L., Page, D. T., Neubert, T. A., & Jordan, B. A. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.02.02.429412 · Cited by 2 · see citing works
Impaired astrocyte-to-neuron cholesterol trafficking drives synaptic dysfunction in Rett syndrome
Postogna, F. M., Giancroce, N., Cabasino, C., Biella, F., Roggero, O. M., Breccia, M., Morelli, L., Colombo, D., Arcari, A., Lunghi, G., et al. (2026) · doi:10.64898/2026.07.29.741426 · Cited by 1 · see citing works
“…molecular and functional alterations associated with Mecp2 deficiency, reporting defects in multiple processes, including BDNF regulation, cytokine production, cell maturation, morphology and metabolism (Albizzati et al., 2022, 2024; Maezawa et al., 2009; Pacheco et al., 2017; Sun et al., 2023).”
Karaosmanoğlu, B., İmren, G., Ozisin, M. S., Reçber, T., Şimşek‐Kiper, P. Ö., Haliloğlu, G., Alikaşifoğlu, M., Nemutlu, E., Taşkıran, E. Z., & Ütine, G. E. (2024) · Molecular Biology Reports · doi:10.1007/s11033-024-09915-6 · Cited by 1 · see citing works
The molecular arms race: Xenophagy, pathogen evasion, and emerging host-directed therapies
Ansari, O., Ahmed, F., Siddiquee, N., Mursaleen, A., Rushna, S., Sheikh, J. A., & Shariq, M. (2026) · Microbiological Research · doi:10.1016/j.micres.2026.128460 · Cited by 1 · see citing works
New insights into Rett syndrome pathogenesis: defining the role of MEPC2 in DNA damage
Mansooralavi, N., & Lowry, W. E. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2026.1711771 · Cited by 1 · see citing works
Positive effects of low dose IMPX977 on Rett syndrome related MeCP2 targeted-genes
Zhao, Y., Le, L., Song, Y., Qi, L., Fu, H., Bai, X., Li, S., Nan, X., & Hu, K. (2018) · Chinese Herbal Medicines · doi:10.1016/j.chmed.2018.10.003 · Cited by 1 · see citing works
miR126-mediated impaired vascular integrity in Rett syndromePreprint
Osaki, T., Wan, Z., Haratani, K., Jin, Y., Campisi, M., Barbie, D., Kamm, R., & Sur, M. (2024) · bioRxiv · doi:10.1101/2024.10.11.617929 · Cited by 1 · see citing works
Frankel, E., Dodson, J., Sharifi, M., Pillai, R., Ramsey, K. M., Gupta, R., Brzezinski, M., Venugopal, P., Llaci, L., Gerald, B., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.01.11.899658
Transcriptomic and epigenetic changes after the phenotypic rescue of a Rett Syndrome mouse model
Vargas-Landín, D. B. (2021) · UWA Profiles and Research Repository (UWA) · doi:10.26182/9kh2-8h70
Milla, B. M. (2021) · Journal of Neurophysiology · doi:10.1152/jn.00222.2021
Understanding the Roles of DNA Methylation and MeCP2 in Neuronal Enhancer Control
Clemens, A. W. (2021) · Open Scholarship Institutional Repository (Washington University in St. Louis) · doi:10.7936/b33m-qg14
Gioiosa, S., Gasparini, S., Presutti, C., Rinaldi, A., Castrignanò, T., & Mannironi, C. (2024) · Research Square · doi:10.21203/rs.3.rs-4895075/v1
Exon Skipping Events Identification and Analysis by Mass Spectrometry Data
Li, Z., Xu, H., & Gao, Z. (2024) · International Conference on Intelligent Medicine and Health (ICIMH) · doi:10.1145/3715931.3715933
Upregulated SEMA3C in astrocytes contributes to Rett Syndrome phenotypesPreprint
Lyon, K. A., Paumier, A., Kandikonda, A., Melendez, A., & Allen, N. J. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.10.681027
Lee, H.-M., Kuijer, M. B., Blanes, N. R., Clark, E. P., Aita, M., Galiano Arjona, L., Kokot, A., Sciaky, N., Simon, J. M., Bhatnagar, S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13219493
Lee, H.-M., Kuijer, M. B., Blanes, N. R., Clark, E. P., Aita, M., Galiano Arjona, L., Kokot, A., Sciaky, N., Simon, J. M., Bhatnagar, S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13219490
Lee, H.-M., Kuijer, M. B., Blanes, N. R., Clark, E. P., Aita, M., Galiano Arjona, L., Kokot, A., Sciaky, N., Simon, J. M., Bhatnagar, S., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13219496
Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?
Lange, J., Zhao, E., O'Connell, E., Gillham, O., & McTague, A. (2026) · Journal of Neuroscience Research · doi:10.1002/jnr.70148
Carotid body dysfunction contributes to respiratory instability in Rett syndrome
Strain, M. L., da Silva, E. N., Olsen, M. L., & Mulkey, D. K. (2026) · Current Biology · doi:10.1016/j.cub.2026.08.015
Self-citation
- Authors
- Pacheco, N. L., Heaven, M. R., Holt, L. M., Crossman, D. K., Boggio, K. J., Shaffer, S. A., Flint, D. L., & Olsen, M. L.
- Affiliations
- University of Alabama at Birmingham (US)
- University of Massachusetts Chan Medical School (US)
- Corresponding author
- Olsen, Michelle L.
- ORCID
- Venue
- Molecular Autism
- Published
- 2017-10-24
- Volume
- 8
- Issue
- 1
- Pages
- 56-56
- ISSN
- 2040-2392 (ISSN-L)
- PMC
- PMC5655833
- OpenAlex
- W2765768583
- Cited by
- 90
- References
- 157
- Citations by year
- 2026: 5 · 2025: 6 · 2024: 10 · 2023: 10 · 2022: 9 · 2021: 14 · 2020: 15 · 2019: 13 · 2018: 8
- FWCI
- 6.54
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Molecular Autism (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- The Journal of the American Medical Association (JAMA) Network (American Medical Association) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- VTechWorks (Virginia Tech) (submittedVersion)
- VTechWorks (Virginia Tech) (submittedVersion, public-domain)
- Funders
- National Institute of Neurological Disorders and Stroke (R01HL104101)
- Civitan Emerging Research Scholar Award, University of Alabama at Birmingham (3116072)
- Comprehensive Cancer Center, University of Alabama at Birmingham (CA13148)
- Center for AIDS Research, University of Alabama at Birmingham (AI027767)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- Rett syndrome, MeCP2, cerebral cortex, RNA metabolism, proteostasis, monoamine metabolism, cholesterol biosynthesis, calcium signaling, protein stability, astrocyte maturation, myelination, neuroinflammation, synaptic transmission, therapeutic target
- MeSH terms
- Animals, Cerebral Cortex, Chromatography, High Pressure Liquid, Disease Models, Animal, Female, Genotype, Male, Mice, Inbred C57BL, Neurons, Phenotype, RNA, Rett Syndrome, Sequence Analysis, RNA, Mice, Knockout, Proteome, Proteomics, Mice, Methyl-CpG-Binding Protein 2, Tandem Mass Spectrometry, Transcriptome
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