Evidence map›Paper›PMID 38928321›Full record

ArticleInternational journal of molecular sciences2024

Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.

Eleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, Natascha Bergamin, Andrea Bordugo, Annalisa Sechi, Maurizio Scarpa, Jessica Biasizzo, Fabiana Colucci, Andrea Dardis

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing 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

7 citing papers in PubMed.

  1. Biological psychiatry global open science · 2026
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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

10 authors.

Eleonora PavanRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Paolo PeruzzoRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.ORCID 0000-0001-5216-8719
Silvia CattarossiRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Natascha BergaminRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Andrea BordugoRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Annalisa SechiRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Maurizio ScarpaRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.
Jessica BiasizzoClinical Pathology Division, Department of Laboratory Medicine, University Hospital Friuli Centrale ASUFC, 33100 Udine, Italy.
Fabiana ColucciDepartment of Neuroscience and Rehabilitation, University of Ferrara, 44121 Ferrara, Italy.
Andrea DardisRegional Coordinator Centre for Rare Diseases, University Hospital of Udine, 33100 Udine, Italy.ORCID 0000-0001-7024-8181

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glucocerebrosidase (GCase) is a lysosomal enzyme that catalyzes the breakdown of glucosylceramide in the presence of its activator saposin C (SapC). SapC arises from the proteolytical cleavage of prosaposin (encoded by

Indexed as

Gaucher DiseaseGlucosylceramidaseLysosomal Membrane ProteinsReceptors, ScavengerSaposinsFemaleFibroblastsHexosaminidasesHumansLysosomesMaleMutationchitotriosidaseGBA protein, humanGlucosylceramidaseHexosaminidasesLysosomal Membrane ProteinsPSAP protein, humanReceptors, ScavengerSaposinsSCARB2 protein, humanAMRFGaucher DiseaseglucocerebrosidaseLIMP-2prosaposinsaposin C

Identifiers

PMID38928321
PMCPMC11204053

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.