A role for metabolism in Rett syndrome pathogenesis: New clinical findings and potential treatment targets
Open accessAbstract
Rett syndrome (RTT), an X-linked neurological disorder caused by mutations in MECP2, may have a metabolic component. We reported a genetic suppressor screen in a Mecp2-null mouse model to identify pathways for therapeutic improvement of RTT symptoms. Of note, one suppressor mutation implied that cholesterol homeostasis was perturbed in Mecp2 null mice; indeed, cholesterol synthesis was elevated in the brain and body system. Remarkably, the genetic effect of downregulating the cholesterol pathway could be mimicked chemically by statin drugs, improving motor symptoms, and increasing longevity in the mouse. Our work linked cholesterol metabolism to RTT pathology for the first time. Both neurological and systemic effects of perturbed cholesterol homeostasis overlap with many RTT symptoms. Here we show in patients that peripheral cholesterol, triglycerides, and/or LDLs may be elevated early in RTT disease onset, providing a biomarker for patients that could be aided by therapeutic interventions that modulate lipid metabolism.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Both RTT patients and Mecp2 mutant mice present with metabolic syndrome, oxidative stress, cardiac defects, decreased bone density and urological dysfunction.
“Additionally, both RTT patients and Mecp2 mutant mice present with metabolic syndrome [15,180], oxidative stress [27,29], cardiac defects [211,212], decreased bone density [174,213] and urological dysfunction [214,215].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [15]
For the metabolic-syndrome portion of the sentence, “Considerations for Other Therapies that May Affect Metabolism in RTT Patients” explicitly describes metabolic-syndrome phenotypes in Mecp2-null mice. “A Subset of Rett Patients Display Dyslipidemia” reports elevated lipids in some RTT patients, but does not establish that RTT patients present with metabolic syndrome. No page numbers are provided in our copy. (LLM, conf=0.88)
Experimental — accuracy not yet measuredA number of RTT patients present with dyslipidaemia.
“A number of patients present with dyslipidaemia [15,16], elevated plasma leptin and adiponectin [17,18], elevated ammonia [1] and inflammation of the gallbladder, an organ which stores bile for fat digestion [19].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [15]
Metabolic complications are common in RTT.
“Metabolic complications are also common in RTT.”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [15]
Humans with RTT have a wide range in body mass index.
“Interestingly, heterozygous female mice on all genetic backgrounds, as well as female rats, become significantly overweight as they age [115,117,125], although humans with RTT have a wide range in body mass index [15].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [15]
Only a subset of RTT patients exhibit increased serum cholesterol and/or triglycerides.
“Consistently, only a subset of RTT patients exhibit increased serum cholesterol and/or triglycerides [15,16,173].”
From Rett syndrome: a neurological disorder with metabolic components (2018) · cites this paper as [15]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
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
Steatohepatitis: A tale of two “hits”?
Day, C. P., & James, O. F. W. (1998) · Gastroenterology · doi:10.1016/s0016-5085(98)70599-2 · Cited by 4,285 · see citing works
Kavey, R., Simons-Morton, D., & de Jesus, J. D. (2011) · Pediatrics · doi:10.1542/peds.2009-2107c · Cited by 2,131 · see citing works
Rett syndrome: Revised diagnostic criteria and nomenclature
Neul, J. L., Kaufmann, W. E., Glaze, D. G., Christodoulou, J., Clarke, A. J., Bahi‐Buisson, N., Leonard, H., Bailey, M. E. S., Schanen, N. C., Zappella, M., et al. (2010) · Annals of Neurology · doi:10.1002/ana.22124 · Cited by 1,398 · see citing works
Reversal of Neurological Defects in a Mouse Model of Rett Syndrome
Guy, J., Gan, J., Selfridge, J., Cobb, S., & Bird, A. (2007) · Science · doi:10.1126/science.1138389 · Cited by 1,230 · see citing works
Lipid screening and cardiovascular health in childhood
Daniels, S. R., Greer, F. R., & and the Committee on Nutrition (2008) · Pediatrics · doi:10.1542/peds.2008-1349 · Cited by 1,178 · see citing works
Astroglial Metabolic Networks Sustain Hippocampal Synaptic Transmission
Rouach, N., Koulakoff, A., Abudara, V., Willecke, K., & Giaume, C. (2008) · Science · doi:10.1126/science.1164022 · Cited by 861 · see citing works
Rossignol, D. A., & Frye, R. E. (2011) · Molecular Psychiatry · doi:10.1038/mp.2011.165 · Cited by 545 · see citing works
Cholesterol metabolism in neurons and astrocytes
Pfrieger, F. W., & Ungerer, N. (2011) · Progress in Lipid Research · doi:10.1016/j.plipres.2011.06.002 · Cited by 500 · see citing works
Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor
Lyst, M. J., Ekiert, R., Ebert, D. H., Merusi, C., Nowak, J., Selfridge, J., Guy, J., Kastan, N. R., Robinson, N. D., de Lima Alves, F., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3434 · Cited by 410 · see citing works
Valproic acid hepatic fatalities. III. U.S. experience since 1986
Bryant, A. E., & Dreifuss, F. E. (1996) · Neurology · doi:10.1212/wnl.46.2.465 · Cited by 339 · see citing works
Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized
Bienvenu, T., & Chelly, J. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1878 · Cited by 289 · see citing works
Liver-specific deletion of histone deacetylase 3 disrupts metabolic transcriptional networks
Knutson, S. K., Chyla, B. J., Amann, J. M., Bhaskara, S., Huppert, S. S., & Hiebert, S. W. (2008) · The EMBO Journal · doi:10.1038/emboj.2008.51 · Cited by 271 · 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
Self-citationOsterweil, E. K., Chuang, S.-C., Chubykin, A. A., Sidorov, M., Bianchi, R., Wong, R. K. S., & Bear, M. F. (2013) · Neuron · doi:10.1016/j.neuron.2012.01.034 · Cited by 230 · see citing works
Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome
Kriaucionis, S., Paterson, A., Curtis, J., Guy, J., MacLeod, N., & Bird, A. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.01665-05 · Cited by 219 · see citing works
Rett Syndrome: Exploring the Autism Link
Percy, A. K. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.149 · Cited by 144 · see citing works
Defects of cholesterol biosynthesis
Waterham, H. R. (2006) · FEBS Letters · doi:10.1016/j.febslet.2006.07.027 · Cited by 108 · see citing works
The effects of cholesterol on learning and memory
Schreurs, B. G. (2010) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2010.04.010 · Cited by 105 · see citing works
Prospects of Statins in Parkinson Disease
Roy, A., & Pahan, K. (2011) · The Neuroscientist · doi:10.1177/1073858410385006 · Cited by 96 · see citing works
Ketogenic Diet in Rett Syndrome
Liebhaber, G., Riemann, E., & Baumeister, F. A. M. (2003) · Journal of Child Neurology · doi:10.1177/08830738030180011801 · Cited by 77 · 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
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
Dalla, Y., Singh, N., Jaggi, A. S., & Singh, D. (2010) · Pharmacological Reports · doi:10.1016/s1734-1140(10)70339-x · Cited by 34 · see citing works
Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2
Ardern‐Holmes, S. L., & North, K. N. (2011) · Current Treatment Options in Neurology · doi:10.1007/s11940-011-0142-9 · Cited by 25 · see citing works
Kwiterovich, P. O. (2008) · Journal of clinical lipidology · doi:10.1016/j.jacl.2008.06.003 · Cited by 24 · see citing works
Rett syndrome: a case presenting with atypical seizures. Neurophysiological and clinical aspects
Pardal-Fernández, J. M., Jerez-García, P., Onsurbe-Ramírez, I., & Giner, J. M. (2004) · Neurophysiologie Clinique · doi:10.1016/j.neucli.2003.08.003 · Cited by 7 · see citing works
[Rett's syndrome: study of 15 cases].
Campos-Castelló, J., Guerra, M. P., Gómez, Á. R., García, F., Tanarro, J. H., Barrero, M. T., Sierra, J. E., Sassot, S. C., Lautre-Ecenarro, M. J., & Carcedo, C. F. (1988) · PubMed · Cited by 5 · see citing works
[Cerebral atrophic syndrome in hyperammonemia in children].
Rett, A. (1968) · PubMed · Cited by 1 · see citing works
Increased plasma leptin levels and valproate use in patients with Rett syndrome
Penning, C., & van der Wouden, J. C. (2007) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2007.06.032 · Cited by 1 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
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
Self-citationVaz, R. L., Outeiro, T. F., & Ferreira, J. J. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00347 · Cited by 169 · see citing works
Treating Rett syndrome: from mouse models to human therapies
Vashi, N., & Justice, M. J. (2019) · Mammalian Genome · doi:10.1007/s00335-019-09793-5 · Cited by 111 · see citing works
Self-citationEpigenetics and Metabolism in Health and Disease
Tzika, E., Dreker, T., & Imhof, A. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00361 · Cited by 102 · see citing works
Pacheco, N. L., Heaven, M. R., Holt, L. M., Crossman, D. K., Boggio, K. J., Shaffer, S. A., Flint, D. L., & Olsen, M. L. (2017) · Molecular Autism · doi:10.1186/s13229-017-0174-4 · Cited by 90 · see citing works
MeCP2 co-ordinates liver lipid metabolism with the NCoR1/HDAC3 corepressor complex
Kyle, S. M., Saha, P. K., Brown, H. M., Chan, L. C., & Justice, M. J. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw156 · Cited by 84 · see citing works
Self-citationCan Cholesterol Metabolism Modulation Affect Brain Function and Behavior?
Cartocci, V., Servadio, M., Trezza, V., & Pallottini, V. (2017) · Journal of Cellular Physiology · doi:10.1002/jcp.25488 · Cited by 77 · see citing works
Gold, W. A., Percy, A. K., Neul, J. L., Cobb, S., Pozzo‐Miller, L. D., Issar, J. K., Ben‐Zeev, B., Vignoli, A., & Kaufmann, W. E. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00568-0 · Cited by 80 · see citing works
Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome
Filosa, S., Pecorelli, A., D’Esposito, M., Valacchi, G., & Hayek, J. (2015) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2015.04.019 · Cited by 69 · see citing works
Matagne, V., Borloz, E., Ehinger, Y., Saidi, L., Villard, L., & Roux, J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2020.105235 · Cited by 47 · 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
Fat-Specific Knockout of Mecp2 Upregulates Slpi to Reduce Obesity by Enhancing Browning
Liu, C., Wang, J., Wei, Y., Zhang, W., Geng, M., Yuan, Y., Chen, Y., Sun, Y., Chen, H., Zhang, Y., et al. (2019) · Diabetes · doi:10.2337/db19-0502 · Cited by 40 · see citing works
Zuliani, I., Urbinati, C., Valenti, D., Quattrini, M. C., Medici, V., Cosentino, L., Pietraforte, D., Domenico, F. D., Marzia Perluigi, A., Vacca, R. A., et al. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9061669 · Cited by 38 · see citing works
4-hydroxynonenal protein adducts: Key mediator in Rett syndrome oxinflammation
Valacchi, G., Pecorelli, A., Cervellati, C., & Hayek, J. (2017) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2016.12.045 · Cited by 37 · see citing works
13-HODE, 9-HODE and ALOX15 as potential players in Rett syndrome OxInflammation
Pecorelli, A., Cervellati, C., Cordone, V., Amicarelli, F., Hayek, J., & Valacchi, G. (2019) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2019.02.007 · Cited by 35 · see citing works
MeCP2 related studies benefit from the use of CD1 as genetic background
Cobolli Gigli, C., Scaramuzza, L., Gandaglia, A., Bellini, E., Gabaglio, M., Parolaro, D., Kilstrup-Nielsen, C., Landsberger, N., & Bedogni, F. (2016) · PLOS ONE · doi:10.1371/journal.pone.0153473 · Cited by 37 · see citing works
Data gaps limit the translational potential of preclinical research
Kleiman, R. J., & Ehlers, M. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aac9888 · Cited by 33 · see citing works
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Zandl-Lang, M., Züllig, T., Trötzmüller, M., Naegelin, Y., Abela, L., Wilken, B., Scholl-Buergi, S., Karall, D., Kappos, L., Köfeler, H., et al. (2022) · Metabolites · doi:10.3390/metabo12040291 · Cited by 30 · see citing works
Golubiani, G., Lagani, V., Solomonia, R. O., & Müller, M. (2021) · Cells · doi:10.3390/cells10092494 · Cited by 24 · see citing works
Enikanolaiye, A., Ruston, J., Zeng, R., Taylor, C., Schrock, M., Buchovecky, C. M., Shendure, J., Acar, E. F., & Justice, M. J. (2020) · Genome Research · doi:10.1101/gr.258400.119 · Cited by 23 · see citing works
Self-citationNeier, 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
Mouro, F. M., Miranda‐Lourenço, C., Sebastião, A. M., & Diógenes, M. J. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00680 · Cited by 21 · see citing works
Lovastatin fails to improve motor performance and survival in methyl-CpG-binding protein2-null mice
Villani, C., Sacchetti, G., Bagnati, R., Passoni, A., Fusco, F., Carli, M., & Invernizzi, R. W. (2016) · eLife · doi:10.7554/elife.22409 · 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
The omics era: a nexus of untapped potential for Mendelian chromatinopathies
Nava, A. A., & Arboleda, V. A. (2023) · Human Genetics · doi:10.1007/s00439-023-02560-2 · Cited by 19 · see citing works
Buist, M., Fuss, D., & Rastegar, M. (2021) · Biomolecules · doi:10.3390/biom11081253 · Cited by 18 · see citing works
Alterations in the carnitine cycle in a mouse model of Rett syndrome
Mucerino, S., Salle, A. D., Alessio, N., Margarucci, S., Nicolai, R., Melone, M. A. B., Galderisi, U., & Peluso, G. (2017) · Scientific Reports · doi:10.1038/srep41824 · Cited by 18 · see citing works
Mitochondrial modulation with leriglitazone as a potential treatment for Rett syndrome
Musokhranova, U., Grau, C., Vergara, C., Rodríguez‐Pascau, L., Xiol, C., Castells, A. A., Alcántara, S., Rodríguez‐Pombo, P., Pizcueta, P. M., Martinell, M., et al. (2023) · Journal of Translational Medicine · doi:10.1186/s12967-023-04622-5 · Cited by 17 · see citing works
Severe changes in colon epithelium in the Mecp2-null mouse model of Rett syndrome
Millar-Büchner, P., Philp, A. R., Gutierrez, N., Villanueva, S., Kerr, B., & Flores, C. A. (2016) · Molecular and Cellular Pediatrics · doi:10.1186/s40348-016-0065-3 · Cited by 16 · see citing works
Righetto, I., Gasparotto, M., Casalino, L., Vacca, M., & Filippini, F. (2023) · Biomolecules · doi:10.3390/biom13010169 · Cited by 14 · see citing works
MiR-422a promotes adipogenesis via MeCP2 downregulation in human bone marrow mesenchymal stem cells
Giuliani, A., Sabbatinelli, J., Amatori, S., Graciotti, L., Silvestrini, A., Matacchione, G., Ramini, D., Mensa’, E., Prattichizzo, F., Babini, L., et al. (2023) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-023-04719-6 · Cited by 13 · see citing works
MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome
Ciernia, A. V., Yasui, D. H., Pride, M. C., Durbin-Johnson, B. P., Noronha, A. B., Chang, A., Knotts, T. A., Rutkowsky, J. M., Ramsey, J. J., Crawley, J. N., et al. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy301 · Cited by 13 · see citing works
Blatnik, A. J., McGovern, V. L., & Burghes, A. H. M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22168494 · Cited by 13 · see citing works
Drug Treatments for Neurodevelopmental Disorders: Targeting Signaling Pathways and Homeostasis
Kaufmann, W. E., Luu, S., & Budimirovic, D. B. (2024) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-024-01394-3 · Cited by 8 · see citing works
Aberrant lung lipids cause respiratory impairment in a Mecp2-deficient mouse model of Rett syndrome
Vashi, N., Ackerley, C. A., Post, M., & Justice, M. J. (2021) · Human Molecular Genetics · doi:10.1093/hmg/ddab182 · Cited by 8 · see citing works
Self-citationModel systems inform rare disease diagnosis, therapeutic discovery and pre-clinical efficacy
Enikanolaiye, A., & Justice, M. J. (2019) · Emerging Topics in Life Sciences · doi:10.1042/etls20180057 · Cited by 7 · see citing works
Self-citationGene Therapy for Rett Syndrome: Prospects and Challenges
Gadalla, K. K. E., Ross, P. D., Hector, R. D., Bahey, N. G., Bailey, M. E. S., & Cobb, S. (2015) · Future Neurology · doi:10.2217/fnl.15.29 · Cited by 7 · see citing works
Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex
Dominguez, G., Wu, Y., & Zhou, J. (2024) · Genes · doi:10.3390/genes15121653 · Cited by 6 · see citing works
Translational Medicine Strategies in Drug Development for Neurodevelopmental Disorders
Srivastava, S., Şahin, M., & Prock, L. A. (2019) · Handbook of behavioral neuroscience · doi:10.1016/b978-0-12-803161-2.00022-9 · Cited by 6 · see citing works
Enikanolaiye, A., Ruston, J., Zeng, R., Taylor, C., Schrock, M., Buchovecky, C. M., Shendure, J., Acar, E. F., & Justice, M. J. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/810929 · Cited by 5 · see citing works
Self-citationA Review on Rett Syndrome: A Debilitating Neurodevelopmental Disorder
Narava, S. S. S., Kucherlapati, S., Mugada, V. K., & Yarguntla, S. R. (2023) · Research Journal of Pharmacology and Pharmacodynamics · doi:10.52711/2321-5836.2023.00029 · Cited by 4 · see citing works
Rett Syndrome: Thinking Beyond Brain Borders
Liu, Y., Guo, R., & Jaenisch, R. (2025) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-89525-8_9 · Cited by 4 · see citing works
Pramanik, S., Bala, A., & Pradhan, A. (2024) · The Journal of Gene Medicine · doi:10.1002/jgm.3677 · Cited by 5 · see citing works
Ma, R., Hou, S., Xiang, R., Liu, W., Li, X., Chi, Y., Xu, M., Yao, H., Li, J., & Yang, J. (2025) · Advanced Science · doi:10.1002/advs.202503603 · Cited by 3 · see citing works
Is cholesterol both the lock and key to abnormal transmembrane signals in Autism Spectrum Disorder?
Lingwood, C. A. (2024) · Lipids in Health and Disease · doi:10.1186/s12944-024-02075-3 · Cited by 3 · see citing works
Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?
Fuchs, C., Hoen, P. A. C. ’., Müller, A. R., Ehrhart, F., & van Karnebeek, C. (2024) · Frontiers in Medicine · doi:10.3389/fmed.2024.1425038 · Cited by 3 · see citing works
Cholesterol in autism spectrum disorders
Franco, R., Rivas‐Santisteban, R., Navarro, G., & Reyes‐Resina, I. (2021) · Exploration of Neuroprotective Therapy · doi:10.37349/ent.2021.00003 · Cited by 2 · see citing works
Generation and Identification of Mutations Resulting in Chronic and Age‐Related Phenotypes in Mice
Blease, A., NICOL, T., Falcone, S., Starbuck, B., Greenaway, S., Hutchinson, M., & Potter, P. K. (2018) · Current Protocols in Mouse Biology · doi:10.1002/cpmo.42 · Cited by 2 · see citing works
Genetic and epigenetic influences on the phenotype of Rett syndrome
Downs, J. A., LaSalle, J. M., & Leonard, H. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813796-3.00009-2 · Cited by 2 · see citing works
An overview of developmental dysregulation of autonomic control in infants
Altamirano, A. E., & Wilson, C. G. (2021) · Birth Defects Research · doi:10.1002/bdr2.1855 · Cited by 2 · see citing works
Sterol biosynthesis, brain development, and disease
Peeples, E. S., Korade, Ž., & Mirnics, K. (2026) · Journal of Clinical Investigation · doi:10.1172/jci208000 · Cited by 1 · see citing works
Steatotic liver disease diagnosed in a 24-year-old woman with Rett syndrome: a case report
Albino, L., Adatia, A., Thiesen, A., Halloran, B. P., Dong, V. M., & Moctezuma‐Velázquez, C. (2025) · Journal of International Medical Research · doi:10.1177/03000605241310158 · Cited by 1 · see citing works
Understanding Rett Syndrome: By Means of Genetic Mutations and Evolutionary Classification
Kaur, R., & Chatterjee, P. (2021) · International Journal of Science and Research (IJSR) · doi:10.21275/sr201228132812
Genetic, Functional and Clinical Evaluation of MeCP2 Mutations
Sheikh, T. I. (2018) · TSpace (University of Toronto)
Induced pluripotent stem cells for modeling of Rett Syndrome
Shekhar, B. R., & Das, D. K. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-85764-2.00014-4
Kontrak pengangkutan barangan melalui laut : Tanggungan tuan punya kapal di bawah common law
Hashim, R. C. (2002) · Universiti Utara Malaysia Institutional Repository (Universiti Utara Malaysia)
Musokhranova, U., Grau, C., Vergara, C., Rodríguez‐Pascau, L., Xiol, C., Castells, A. A., Alcántara, S., Rodríguez‐Pombo, P., Pizcueta, P. M., Martinell, M., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26632621
Syndrome de Rett et implication des organes périphériques : de la physiopathologie à la thérapie
Borloz, E. (2021) · theses.fr (ABES) · doi:10.70675/6910a242za2edz4509zbc5aze548081377dd
Etude de la contribution de l'hormone adipocytaire leptine dans la pathogenèse du syndrome de Rett
Belaïdouni, Y. (2022) · theses.fr (ABES) · doi:10.70675/f69d2875zfa9fz4465z917eza8e7b93935c6
Kabdesh, I. M., Rizvanov, A. A., & Mukhamedshina, Y. O. (2026) · Non-Coding RNA · doi:10.3390/ncrna12040025
Mapping Trofinetide Polypharmacology in Rett Syndrome: A Multi‐Stage Computational Analysis
Hernández‐Ayala, L. F., Guzmán‐López, E. G., & Galano, A. (2026) · Journal of Computational Chemistry · doi:10.1002/jcc.70468
- Authors
- Justice, M. J., Buchovecky, C. M., Kyle, S. M., & Djukic, A.
- Affiliations
- Baylor College of Medicine (US)
- Albert Einstein College of Medicine (US)
- Corresponding author
- Justice, Monica J
- Venue
- Rare Diseases
- Publisher
- Informa UK Limited
- Published
- 2013-01
- Volume
- 1
- Issue
- 1
- Pages
- e27265
- ISSN
- 2167-549X (ISSN-L)
- 2167-5511
- PMC
- PMC3978897
- OpenAlex
- W1964269471
- Cited by
- 61
- References
- 30
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 7 · 2023: 6 · 2022: 2 · 2021: 10 · 2020: 3 · 2019: 8 · 2018: 6 · 2017: 4 · 2016: 6 · 2015: 2
- FWCI
- 1.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Rare Diseases (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- International Rett Syndrome Foundation
- Rett Syndrome Research Trust
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Lipids, and Metabolism
- Keywords
- Rett syndrome, MeCP2, cholesterol homeostasis, cholesterol biosynthesis, statins, Mecp2-null mice, lipid metabolism, biomarkers, motor symptoms, longevity
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
