Evidence map›Paper›PMID 41378214›Full record

ArticleFrontiers in pharmacology2025

Pathogenic variants at the N-terminal arginine residue 44 disrupt human GABA transporter 1 function: insights from

Nikita Shah, Ameya Sanjay Kasture, Vasylyna Kovalchuk, Lara Bjeletic, Thomas Hummel, Harald H Sitte, Sonja Sucic

Abstract read
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In one paragraph

Article in Frontiers in pharmacology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Nikita Shah *Institute of Pharmacology, Center of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
Ameya Sanjay Kasture *Institute of Pharmacology, Center of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
Vasylyna KovalchukInstitute of Pharmacology, Center of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
Lara BjeleticInstitute of Pharmacology, Center of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
Thomas HummelDepartment of Neuroscience and Developmental Biology, University of Vienna, Vienna, Austria.
Harald H SitteInstitute of Pharmacology, Center of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.
Sonja SucicInstitute of Pharmacology, Center of Physiology and Pharmacology, Medical University of Vienna, Vienna, Austria.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Arginine 44 (R44) is a highly conserved residue in the human GABA transporter 1 (hGAT-1), a member of the solute carrier 6 (SLC6) family, which plays a critical role in regulating inhibitory neurotransmission in the central nervous system. To elucidate its functional importance, we characterized three epilepsy-associated pathogenic variants - R44Q, R44P and R44W - linked to myoclonic-atonic epilepsy (MAE) and developmental delay. Building on evidence that R44 resides within the N-terminal intracellular gate and is essential for transporter function, we employed biochemical, cellular and organismal models (HEK293 cells and

Indexed as

disease variantsDrosophila melanogasterepilepsyproteasome inhibitionsmall moleculesγ-aminobutyric acid (GABA) transporter 1 (GAT-1)

Identifiers

PMID41378214
PMCPMC12685850

What Socratic holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.