{"doi":"10.3390/brainsci14020120","title":"Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials","abstract":"<jats:p>Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of speech; reduced lifespan; retarded growth; disturbance of sleep and breathing; seizures; autism; and gait apraxia. Pneumonia is the most common cause of death for patients with Rett syndrome, with a survival rate of 77.8% at 25 years of age. Survival into the fifth decade is typical in Rett syndrome, and the leading cause of death is cardiorespiratory compromise. Rett syndrome progression has multiple stages; however, most phenotypes are associated with the nervous system and brain. In total, 95% of Rett syndrome cases are due to mutations in the MECP2 gene, an X-linked gene that encodes for the methyl CpG binding protein, a regulator of gene expression. In this review, we summarize the recent developments in the field of Rett syndrome and therapeutics targeting MECP2.</jats:p>","journal":"Brain Sciences","year":2024,"id":640791,"datarank":0.4335557636844247,"base_score":2.8903717578961645,"endowment":2.8903717578961645,"self_citation_contribution":0.4335557636844247,"citation_network_contribution":0.0,"self_endowment_contribution":0.4335557636844247,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":17,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1665599,"name":"Sampath Kumar Loganathan","orcid":null,"position":1,"is_corresponding":false},{"id":1665600,"name":"Jayalakshmi Caliaperumal","orcid":"0000-0001-6071-269X","position":2,"is_corresponding":false},{"id":1665598,"name":"Adele Gaspar Lopes","orcid":"0009-0007-1366-5553","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Rett Syndrome and the Role of MECP2: Signaling to Clinical Trials","abstract":"<jats:p>Rett syndrome (RTT) is a neurological disorder that mostly affects females, with a frequency of 1 in 10,000 to 20,000 live birth cases. Symptoms include stereotyped hand movements; impaired learning, language, and communication skills; sudden loss of speech; reduced lifespan; retarded growth; disturbance of sleep and breathing; seizures; autism; and gait apraxia. Pneumonia is the most common cause of death for patients with Rett syndrome, with a survival rate of 77.8% at 25 years of age. Survival into the fifth decade is typical in Rett syndrome, and the leading cause of death is cardiorespiratory compromise. Rett syndrome progression has multiple stages; however, most phenotypes are associated with the nervous system and brain. In total, 95% of Rett syndrome cases are due to mutations in the MECP2 gene, an X-linked gene that encodes for the methyl CpG binding protein, a regulator of gene expression. In this review, we summarize the recent developments in the field of Rett syndrome and therapeutics targeting MECP2.</jats:p>","is_dataset_classified":null,"base_score":2.8903717578961645,"endowment":2.8903717578961645,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"38391695","pmcid":"PMC10886956","openalex_id":"https://openalex.org/W4391169665","authors":[],"funders":[{"funder_name":"Canadian Institutes of Health Research","grant_id":"unidentified","title":"unidentified"}],"total_grants":1,"fwci":6.7189,"citation_percentile":0.97106242,"influential_citations":0,"citation_trend":[{"year":2024,"count":5},{"year":2025,"count":8},{"year":2026,"count":4}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://www.mdpi.com/2076-3425/14/2/120/pdf?version=1706088089","host_type":"journal"},{"url":"https://www.mdpi.com/2076-3425/14/2/120/pdf?version=1706088089","host_type":"GOLD"},{"url":"https://www.mdpi.com/2076-3425/14/2/120/pdf?version=1706088089","host_type":"publisher"},{"url":"https://www.mdpi.com/2076-3425/14/2/120/pdf","host_type":"publisher"},{"url":"https://doi.org/10.3390/brainsci14020120","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/38391695","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/10886956","host_type":"repository"},{"url":"https://doaj.org/article/c192361e4f374d2c99d03332e564f45a","host_type":"repository"},{"url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC10886956/pdf/brainsci-14-00120.pdf","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC10886956","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC10886956?pdf=render","host_type":"Europe_PMC"},{"url":"http://dx.doi.org/10.3390/brainsci14020120","host_type":""}],"fields_of_study":["Genetics and Neurodevelopmental Disorders","Autism Spectrum Disorder Research","Family and Disability Support Research","Medicine","Biology","0301 basic medicine","0303 health sciences","03 medical and health sciences"],"mesh_terms":[],"keywords":["Rett syndrome","MECP2","Neurodevelopmental disorder","Autism","Apraxia","Neuroscience","Medicine","Psychology","Phenotype","Biology","Aphasia","Gene","Genetics","Psychiatry","Neurodevelopmental Disorders","Trofinetide","Neurosciences. 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