Evidence map›Paper›PMID 42482697›Full record

ArticleFrontiers in chemistry2026

Biochemical characterization of aspartylglucosaminidase missense variants of unclear significance reveals different degrees of functional impairment.

Antje Banning, Camille E Kreuder, Nicara C Parr, Tabea Lause, Leonie Voll, Halen Godany, Diana Ballhausen, Ritva Tikkanen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in chemistry, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

8 authors.

Antje BanningInstitute of Biochemistry, Faculty of Medicine, University of Giessen, Giessen, Germany.
Camille E KreuderInstitute of Biochemistry, Faculty of Medicine, University of Giessen, Giessen, Germany.
Nicara C ParrInstitute of Biochemistry, Faculty of Medicine, University of Giessen, Giessen, Germany.
Tabea LauseInstitute of Biochemistry, Faculty of Medicine, University of Giessen, Giessen, Germany.
Leonie VollInstitute of Biochemistry, Faculty of Medicine, University of Giessen, Giessen, Germany.
Halen GodanyInstitute of Biochemistry, Faculty of Medicine, University of Giessen, Giessen, Germany.
Diana BallhausenPediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Ritva TikkanenInstitute of Biochemistry, Faculty of Medicine, University of Giessen, Giessen, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Prediction of the molecular consequences of missense variants in genetic diseases places a challenge, often resulting in ambiguous classifications by different algorithms. Thus, such variants of unclear significance (VUS) require a thorough molecular characterization to judge if they are pathogenic or not. Pathogenic variants in the

Indexed as

lysosomal storage disorderprotein foldingprotein stabilityprotein structurevariants of unclear significance

Identifiers

PMID42482697
PMCPMC13386265

What OpenQuestion holds

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Registered trials

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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.