MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders
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DOI: 10.15252/emmm.201910270
Abstract: Mutations in MECP2 cause several neurological disorders of which Rett syndrome (RTT) represents the best‐defined condition. Although mainly working as a transcriptional repressor, MeCP2 is a multifunctional protein revealing several activities, the involvement of which… read more here.
Keywords: ciliogenesis; affect ciliogenesis; rett syndrome; mutations affect ... See more keywords
Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia
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DOI: 10.3389/fgene.2020.00476
Abstract: Deleterious mutations of MECP2 are responsible for Rett syndrome, a severe X-linked childhood neurodevelopmental disorder predominates in females, male patients are considered fatal. However, increasing reports indicate that some MECP2 mutations may also present various… read more here.
Keywords: male patient; missense mutations; mecp2 mutations; gene ... See more keywords