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GABRA1 frameshift variants impair GABA A receptor proteostasis

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.11.28.625971Source: DataRank Database

GABRA1 frameshift variants impair GABA A receptor proteostasis is a research paper published in bioRxiv (Cold Spring Harbor Laboratory) (2024). On theSindex it has a DataRank of 0. It has been cited 4 times.

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Open Access4 citations

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (5 grants)OA: greenTopics (26)IDs (PubMed, OpenAlex)SDGs (1)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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Authors (5)

Yajuan Wang ORCID,Jing‐Qiong Kang ORCID,John H. Perryman,Ting-Wei Mu ORCID,Marnie P Williams

Live enrichment

PubMed:39651292 OpenAlex:https://openalex.org/W4404849723

National Institutes of Health

Grant: 1R01NS117176-01

Assembly Chaperone Complex for Membrane Proteins in the Endoplasmic Reticulum

National Institutes of Health

Grant: 5R01NS105789-05

Understanding GABAA receptor protein folding and misfolding

NINDS NIH HHS

Grant: R01 NS105789

NINDS NIH HHS

Grant: R01 NS117176

NIGMS NIH HHS

Grant: T32 GM008803

greenLicense: cc-by

repositoryhttps://doi.org/10.1101/2024.11.28.625971

publisherhttps://syndication.highwire.org/content/doi/10.1101/2024.11.28.625971

repositoryhttps://pubmed.ncbi.nlm.nih.gov/39651292

repositoryhttps://www.ncbi.nlm.nih.gov/pmc/articles/11623673

Fields of Study

Neuroscience and Neuropharmacology ResearchRNA regulation and diseaseEndoplasmic Reticulum Stress and Disease0303 health sciences03 medical and health sciences

Keywords

ProteostasisGABAA receptorFrameshift mutationReceptorBiologyNeuroscienceGeneticsCell biologyMutationGeneArticleF272fs287XK401fs425XS326fs328XV290fs299Xdegradationendoplasmic reticulumepilepsyfoldingframeshift variantstrafficking

Sustainable Development Goals

SDG 0: Good health and well-being