Evidence map›Paper›PMID 40643555›Full record

ArticleCells2025

Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants.

Antje Banning, Lukas Hoeren, Isis Atallah, Ralph Orczyk, David Jacquier, Diana Ballhausen, Ritva Tikkanen

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cells, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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.

Antje BanningInstitute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, DE-35390 Giessen, Germany.
Lukas HoerenInstitute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, DE-35390 Giessen, Germany.ORCID 0009-0005-3353-9197
Isis AtallahDivision of Genetic Medicine, Lausanne University Hospital and University of Lausanne, 1005 Lausanne, Switzerland.ORCID 0000-0002-0618-1549
Ralph OrczykInstitute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, DE-35390 Giessen, Germany.
David JacquierPediatric Neurology and Neuro-Rehabilitation Unit, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, 1005 Lausanne, Switzerland.ORCID 0000-0002-6173-2905
Diana BallhausenPediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, 1005 Lausanne, Switzerland.ORCID 0000-0003-2940-3439
Ritva TikkanenInstitute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse 24, DE-35390 Giessen, Germany.ORCID 0000-0002-8393-1825

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

NGLY1 deficiency is a congenital disorder of deglycosylation, caused by pathogenic variants of the

Indexed as

Congenital Disorders of GlycosylationPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseGlycosylationHEK293 CellsHumansMutationProteasome Endopeptidase ComplexPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseProteasome Endopeptidase Complexcongenital disorders of deglycosylationdevelopmental delayERADN-Glycosylationproteasomeprotein misfolding

Identifiers

PMID40643555
PMCPMC12248763

What OpenQuestion holds

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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 OpenQuestion graph.