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The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.03.11.483963Source: DataRank Database

The role of UBE3A in the autism and epilepsy-related Dup15q syndrome using patient-derived, CRISPR-corrected neurons is a research paper published in bioRxiv (Cold Spring Harbor Laboratory) (2022). On theSindex it has a DataRank of 0. It has been cited 1 time.

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Enrichment:Funding (2 grants)OA: greenTopics (31)IDs (PubMed, OpenAlex)SDGs (1)

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Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (8)

Aurelie Dumarchey,Christopher Stoddard ORCID,Tiwanna M. Robinson,Christopher Cowie,Dea Gorka ORCID

Live enrichment

PubMed:30945415 OpenAlex:https://openalex.org/W4220801993

National Institutes of Health

Grant: 1R21NS111965-01

Using genetics to uncover cellular phenotypes underlying Dup15q syndrome

National Institutes of Health

Grant: 5R01NS111986-02

Regulation of synaptic plasticity by BDNF-endocannabinoid interactions

greenLicense: CC BY NC ND

repositoryhttps://www.biorxiv.org/content/biorxiv/early/2022/03/12/2022.03.11.483963.full.pdf

publisherhttps://syndication.highwire.org/content/doi/10.1101/2022.03.11.483963

repositoryhttps://doi.org/10.1101/2022.03.11.483963

https://doi.org/10.1016/j.stemcr.2023.02.002

Fields of Study

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesCRISPR and Genetic Engineering0301 basic medicine03 medical and health sciences

Keywords

UBE3AAngelman syndromeBiologyNeurodevelopmental disorderPhenotypeInduced pluripotent stem cellGene duplicationUbiquitin ligaseGeneticsEpilepsyNeuroscienceGenomic imprintingGeneUbiquitinGene expressionEmbryonic stem cellDNA methylationChromosome AberrationsNeuronsChromosomes, Human, Pair 15Intellectual DisabilityUbiquitin-Protein LigasesHumansClustered Regularly Interspaced Short Palindromic RepeatsAutistic DisorderArticle

Sustainable Development Goals

SDG 0: Good health and well-being