Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 Nov 2015

Borralleras Cristina, Sahun Ignasi, Pérez-Jurado Luis A, Campuzano Victoria

Abstract excerpt

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder caused by a heterozygous deletion of 26-28 genes at chromosome band 7q11.23. Haploinsufficiency at GTF2I has been shown to play a major role in the neurobehavioral phenotype. By characterizing the neuronal architecture in four animal models with intragenic, partial, and complete deletions of the WBS critical interval (ΔGtf2i(+/-), ΔGtf2i( -/-), PD,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 7
Share to Cognition

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dependovirus

Share to Genetic Therapy

Share to Haploinsufficiency

Share to Neuronal Plasticity

Share to Transcription Factors, TFII

Share to Williams Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 26216516
DOI: 10.1038/mt.2015.130
PMCID: PMC4817950

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Intracisternal Gtf2i Gene Therapy Ameliorates Deficits in Cognition and Synaptic Plasticity of a Mouse Model of Williams-Beuren Syndrome.PMID 26216516Read ↗

<i>Gtf2i</i> and <i>Gtf2ird1</i> mutation are not sufficient to reproduce mouse phenotypes caused by the Williams Syndrome critical regionSemantic proximity Read ↗

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.Semantic proximity Read ↗

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions.Semantic proximity Read ↗

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models.Semantic proximity Read ↗

Global analysis of gene expression in the developing brain of Gtf2ird1 knockout mice.Semantic proximity Read ↗

Essential role of the N-terminal region of TFII-I in viability and behavior.Semantic proximity Read ↗

Expression of Gtf2ird1, the Williams syndrome-associated gene, during mouse development.Semantic proximity Read ↗

GTF2I dosage regulates neuronal differentiation and social behavior in 7q11.23 neurodevelopmental disordersSemantic proximity Read ↗

Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder.Semantic proximity Read ↗

The contribution of GTF2I haploinsufficiency to Williams syndrome.Semantic proximity Read ↗

Extensive characterization of a Williams Syndrome murine model shows <i>Gtf2ird1</i> -mediated rescue of select sensorimotor tasks, but no effect on enhanced social behaviorSemantic proximity Read ↗

Mutation of Gtf2ird1 from the Williams-Beuren syndrome critical region results in facial dysplasia, motor dysfunction, and altered vocalisations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.