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Article

Ube3a expression is not altered in Mecp2 mutant mice.

Human molecular genetics - 15 Jul 2006

Jordan Charandle, Francke Uta

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental disorder characterized by cognitive regression, loss of purposeful hand movements and speech, stereotypies, ataxia, seizures, mental retardation and acquired microcephaly. Mutations in MECP2, encoding methyl-CpG-binding protein 2, are responsible for approximately 90% of classic RTT cases. RTT displays phenotypic overlap with Angelman syndrome, a disorder caused by loss...

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Source

Identifiers

PMID: 16754645
DOI: 10.1093/hmg/ddl146

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Ube3a expression is not altered in Mecp2 mutant mice.PMID 16754645Read ↗

Cerebellar gene expression profiles of mouse models for Rett syndrome reveal novel MeCP2 targets.Semantic proximity Read ↗

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.Semantic proximity Read ↗

Ube3a/E6AP is involved in a subset of MeCP2 functions.Semantic proximity Read ↗

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome.Semantic proximity Read ↗

Methyl CpG-binding protein isoform MeCP2_e2 is dispensable for Rett syndrome phenotypes but essential for embryo viability and placenta development.Semantic proximity Read ↗

Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3.Semantic proximity Read ↗

Genome-wide gene expression profiling of the Angelman syndrome mice with Ube3a mutation.Semantic proximity Read ↗

Mecp2 deficiency is associated with learning and cognitive deficits and altered gene activity in the hippocampal region of mice.Semantic proximity Read ↗

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.Semantic proximity Read ↗

Toward a Broader View of Ube3a in a Mouse Model of Angelman Syndrome: Expression in Brain, Spinal Cord, Sciatic Nerve and Glial Cells.Semantic proximity Read ↗

Postnatal loss of methyl-CpG binding protein 2 in the forebrain is sufficient to mediate behavioral aspects of Rett syndrome in mice.Semantic proximity Read ↗

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome.Semantic proximity Read ↗

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