Rett syndrome in 32 children (31 girls and 1 boy) was diagnosed according to International association on Rett syndrome. The phenomenon of the presence of special type of late-replicating chromosome X (type C) was revealed. This phenomenon may be recommended as a diagnostic test for both preclinical periods of development of the disease and in atypical cases of Rett syndrome.
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Therapeutic effects of CGS21680, a selective A receptor agonist, via BDNF-related pathways in R106W mutation Rett syndrome model.
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College of Veterinary Medicine, Konkuk University, 120, Neungdong-ro, Gwangjin-gu, Seoul 05029, Republic of Korea. Electronic address:
Rett syndrome (RTT) is a neurological disorder caused by a mutation in the X-linked methyl-CpG binding protein 2 (MECP2), leading to cognitive and motor skill regression. Therapeutic strategies aimed at increasing brain-derived neurotrophic factor (BDNF) levels have been reported; however, BDNF treatment has limitations, including the inability to penetrate the blood-brain barrier, a short half-life, and potential for adverse effects when administered via intrathecal injection, necessitating novel therapeutic approaches. In this study, we focused on the adenosine A receptor (AR), which modulates BDNF and its downstream pathways, and investigated the therapeutic potential of CGS21680, an AR agonist, through in vitro and in vivo studies using R106W RTT model.
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Divisions of Gastroenterology, University of Alberta, Edmonton, Alberta, Canada.
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the gene, potentially disrupting lipid metabolism and leading to dyslipidemia (DLD) and steatotic liver disease (SLD). Although SLD has been described in RTT mouse models, it remains undocumented in humans. We herein describe a 24-year-old woman with RTT who was evaluated for abnormal liver enzymes.
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Barrow Neurological Institute, St. Joseph's Hospital and Medical Center, Phoenix, Arizona, USA. Electronic address:
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