Evidence map›Paper›PMID 40362636›Full record

ArticleInternational journal of molecular sciences2025

Potential Pathogenetic Role of the D313Y Mutation in the

Antonella La Russa, Antonio Siniscalchi, Ardito Bonaventura, Domenico Di Noia, Teresa Valsania, Giovanni Stallone, Luciano Tartaglia, Concetta Chiapparino, Giovanni Di Rienzo, Giuseppe Coppolino and 6 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
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 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. Review
  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

16 authors.

Antonella La RussaNephrology Unit, Department of Health Sciences, "Magna Graecia" University, I-88100 Catanzaro, Italy.
Antonio SiniscalchiDepartment of Neurology and Stroke Unit, Annunziata Hospital, I-87100 Cosenza, Italy.ORCID 0000-0001-5360-9926
Ardito BonaventuraDepartment of Neurology and Stroke Unit, Della Murgia Fabio Perinei Hospital, I-70022 Altamura, Italy.
Domenico Di NoiaDepartment of Neurology and Stroke Unit, Della Murgia Fabio Perinei Hospital, I-70022 Altamura, Italy.
Teresa ValsaniaDepartment of Nephrology and Dialysis, ASL "Guglielmo da Saliceto" Hospital Piacenza, I-29121 Piacenza, Italy.
Giovanni StalloneNephrology Dialysis and Transplantation Unit, Advance Research Center on Kidney Aging (A.R.cK.A.), Department of Medical and Surgical Sciences, University of Foggia, I-71100 Foggia, Italy.
Luciano TartagliaNephrology Dialysis and Transplantation Unit, Advance Research Center on Kidney Aging (A.R.cK.A.), Department of Medical and Surgical Sciences, University of Foggia, I-71100 Foggia, Italy.
Concetta ChiapparinoDepartment of Neurology and Stroke Unit, Della Murgia Fabio Perinei Hospital, I-70022 Altamura, Italy.
Giovanni Di RienzoU.O.S.V.D. Patologia Clinica, Ospedale Della Murgia Fabio Perinei, I-70022 Altamura, Italy.
Giuseppe CoppolinoNephrology Unit, Department of Health Sciences, "Magna Graecia" University, I-88100 Catanzaro, Italy.ORCID 0000-0001-8000-0681
Davide BolignanoDepartment of Medical and Surgical Sciences, "Magna Graecia" University, I-88100 Catanzaro, Italy.ORCID 0000-0003-3032-245X
Teresa FagaRenal Unit, Campus "S. Venuta", "Renato Dulbecco" University Hospital, I-88100 Catanzaro, Italy.
Ashour MichaelNephrology Unit, Department of Health Sciences, "Magna Graecia" University, I-88100 Catanzaro, Italy.
Alberto MontesantoDepartment of Biology, Ecology and Earth Sciences, University of Calabria, I-87036 Rende, Italy.ORCID 0000-0002-9563-2216
Raffaele SerraDepartment of Medical and Surgical Sciences, "Magna Graecia" University, I-88100 Catanzaro, Italy.ORCID 0000-0003-4477-7412
Michele AndreucciNephrology Unit, Department of Health Sciences, "Magna Graecia" University, I-88100 Catanzaro, Italy.ORCID 0000-0002-7974-3792

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Anderson Fabry disease (AFD) is an X-linked hereditary lysosomal abnormality that causes the accumulation of glycosphingolipids in body fluids and tissues, leading to progressive organ damage and a shortened life span. More than 1000 mutations in the

Indexed as

alpha-GalactosidaseFabry DiseaseMutationExonsFemaleHumansMalePedigreealpha-GalactosidaseGLA protein, humanD313YFabry diseaseGLAmutationpolymorphismsVUS

Identifiers

PMID40362636
PMCPMC12072610

What OpenQuestion 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 OpenQuestion graph.