Evidence map›Paper›PMID 40565264›Full record

ArticleInternational journal of molecular sciences2025

Bioinformatics-Driven Multi-Factorial Insight into α-Galactosidase Mutations.

Bruno Hay Mele, Federica Rossetti, Giuseppina Andreotti, Maria Vittoria Cubellis, Simone Guerriero, Maria Monticelli

Abstract read
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. Review
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

6 authors.

Bruno Hay MeleDepartment of Biology, University of Napoli "Federico II", 80126 Napoli, Italy.ORCID 0000-0001-5579-183X
Federica RossettiDepartment of Biology, University of Napoli "Federico II", 80126 Napoli, Italy.
Giuseppina AndreottiInstitute of Biomolecular Chemistry (ICB)-National Council Research of Italy, 80078 Pozzuoli, Italy.ORCID 0000-0002-1594-0156
Maria Vittoria CubellisDepartment of Biology, University of Napoli "Federico II", 80126 Napoli, Italy.ORCID 0000-0001-6147-6553
Simone GuerrieroDepartment of Biology, University of Napoli "Federico II", 80126 Napoli, Italy.
Maria MonticelliDepartment of Biology, University of Napoli "Federico II", 80126 Napoli, Italy.ORCID 0000-0003-3136-2138

Funding

Health Extended ALliance for Innovative Therapies, Advanced 427 Lab-research, and Integrated Approaches of Precision Medicine - HEAL ITALIA 00000019 - 428 Spoke 5 "Next-Gen TherapeuticsMinistero dell'università e della ricerca 2022B2N2BY.
6 · The paper itself

Abstract

Fabry disease is a rare genetic disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A (AGAL), resulting in the accumulation of globotriaosylceramides (Gb3) in tissues and organs. This buildup leads to progressive, multi-systemic complications that severely impact quality of life and can be life-threatening. Interpreting the functional consequences of missense variants in the

Indexed as

alpha-GalactosidaseComputational BiologyFabry DiseaseMutationHumansMutation, Missensealpha-GalactosidaseAGALAlphaMissenseChimeraXEVEFabry diseaseFoldXmissense mutationsstructural bioinformatics

Identifiers

PMID40565264
PMCPMC12193200

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.