Evidence mapPaperPMID 42511849Full record

ArticleInternational journal of molecular sciences2026

Modeling Tay-Sachs Disease in Astrocyte-like Cells Reveals Significant Changes in the Transcriptomic Profile.

Diego A Suárez-García, Angela J Espejo-Mojica, Carlos J Alméciga-Díaz

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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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

3 authors.

Diego A Suárez-GarcíaInstitute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá D.C. 110231, Colombia.ORCID 0000-0001-9519-4706
Angela J Espejo-MojicaInstitute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá D.C. 110231, Colombia.ORCID 0000-0001-9670-6435
Carlos J Alméciga-DíazInstitute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogotá D.C. 110231, Colombia.ORCID 0000-0001-6484-1173

Funding

Pontificia Universidad Javeriana Activity 120289301011ZZPontificia Universidad Javeriana Doctoral ScholarshipPontificia Universidad Javeriana InvestigarPUJ 20567Pontificia Universidad Javeriana InvestigarPUJ 20646
6 · The paper itself

Abstract

Tay-Sachs disease is a rare genetic disorder characterized by the accumulation of GM2 ganglioside in neuronal lysosomes due to deficient β-hexosaminidase A (HexA) activity. Progressive GM2 storage leads to severe neurodegeneration, including developmental delay, motor weakness, seizures, ataxia, and early death, typically by five years of age. Previous studies have elucidated several neuronal mechanisms, including apoptosis, endoplasmic reticulum stress, neuroinflammation, and demyelination, these investigations have focused almost exclusively on neurons. However, other components of the central nervous system, particularly astroglia, may play a critical role in disease pathophysiology as suggested by studies in related lysosomal storage disorders. To address this gap, we generated an astrocyte-like model deficient in HexA by targeted knockdown of the

Indexed as

AstrocytesTay-Sachs DiseaseTranscriptomebeta-Hexosaminidase alpha ChainCell Line, TumorGene Expression ProfilingHumansLysosomesMitochondriaReactive Oxygen Speciesbeta-Hexosaminidase alpha ChainHEXA protein, humanReactive Oxygen SpeciesastrocyteCRISPRlysosomal storage diseaseTay-Sachs

Identifiers

PMID42511849
PMCPMC13411418

What Socratic 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 Socratic graph.