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Published in 2018 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2017.09.006
Abstract: Rett syndrome (RTT) is a devastating neurodevelopmental disorder caused by loss-of-function mutations in the X-linked methyl-CpG binding protein 2 (Mecp2) gene. GABAergic dysfunction has been implicated contributing to the respiratory dysfunction, one major clinical feature…
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Keywords:
null mice;
nucleus tractus;
rett syndrome;
mecp2 null ... See more keywords
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2
Published in 2023 at "Biomolecules"
DOI: 10.3390/biom13040606
Abstract: Rett syndrome (RTT, online MIM 312750) is a devastating neurodevelopmental disorder characterized by motor and cognitive disabilities. It is mainly caused by pathogenetic variants in the X-linked MECP2 gene, encoding an epigenetic factor crucial for…
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Keywords:
blood brain;
rett syndrome;
brain barrier;
brain ... See more keywords
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Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20205177
Abstract: The deletion of Mecp2, the gene encoding methyl-CpG-binding protein 2, causes severe breathing defects and developmental anomalies in mammals. In Mecp2-null mice, impaired GABAergic neurotransmission is demonstrated at the early stage of life. GABAergic dysfunction…
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Keywords:
null mice;
gad1 promoter;
mecp2;
mecp2 null ... See more keywords