Evidence map›Paper›PMID 40565173›Full record

ArticleInternational journal of molecular sciences2025

From Gene to Pathways: Understanding Novel Vps51 Variant and Its Cellular Consequences.

Damla Aygun, Didem Yücel Yılmaz

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 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

2 authors.

Damla AygunDepartment of Pediatric Metabolism, Institute of Child Health, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey.ORCID 0000-0001-6672-8393
Didem Yücel YılmazDepartment of Pediatric Metabolism, Institute of Child Health, Faculty of Medicine, Hacettepe University, Ankara 06230, Turkey.ORCID 0000-0002-8418-9204

Funding

Hacettepe University TSA-2022-20139
6 · The paper itself

Abstract

Disorders of vesicular trafficking and genetic defects in autophagy play a critical role in the development of metabolic and neurometabolic diseases. These processes govern intracellular transport and lysosomal degradation, thereby maintaining cellular homeostasis. In this article, we present two siblings with a novel homozygous variant in

Indexed as

Vesicular Transport ProteinsAutophagyChildFemaleFibroblastsHumansLysosomesMaleMitochondriaProteomicsVesicular Transport ProteinsautophagyEARPGARPmitochondria–lysosome contactproteomicsvesicular traffic

Identifiers

PMID40565173
PMCPMC12193522

What OpenQuestion holds

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Read underepoch 390

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 OpenQuestion graph.