Evidence map›Paper›PMID 41511290›Full record

ArticleCells2025

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of

Sophia P Markaki, Nikole M Kiose, Zoi A Charitopoulou, Stylianos Kougioumtzoglou, Athanassios D Velentzas, Dimitrios J Stravopodis

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. Not yet cited in PubMed.

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

6 authors.

Sophia P MarkakiSection of Cell Biology and Biophysics, Department of Biology, School of Science, National and Kapodistrian University of Athens (NKUA), 157 01 Athens, Greece.ORCID 0009-0003-0522-867X
Nikole M KioseSection of Cell Biology and Biophysics, Department of Biology, School of Science, National and Kapodistrian University of Athens (NKUA), 157 01 Athens, Greece.
Zoi A CharitopoulouSection of Cell Biology and Biophysics, Department of Biology, School of Science, National and Kapodistrian University of Athens (NKUA), 157 01 Athens, Greece.
Stylianos KougioumtzoglouSection of Cell Biology and Biophysics, Department of Biology, School of Science, National and Kapodistrian University of Athens (NKUA), 157 01 Athens, Greece.ORCID 0009-0000-1016-1658
Athanassios D VelentzasSection of Cell Biology and Biophysics, Department of Biology, School of Science, National and Kapodistrian University of Athens (NKUA), 157 01 Athens, Greece.ORCID 0000-0002-9755-395X
Dimitrios J StravopodisSection of Cell Biology and Biophysics, Department of Biology, School of Science, National and Kapodistrian University of Athens (NKUA), 157 01 Athens, Greece.ORCID 0000-0002-9535-2134

Funding

Resource Component: Acquisition, maintenance and distribution of Drosophila stocksP40OD018537 · OD · TRUSTEES OF INDIANA UNIVERSITY · PI Annette L. Parks · 2014 to 2026
$13.5M
NIH HHS P40 OD018537
6 · The paper itself

Abstract

Lysosomal storage disorders (LSDs) are a group of rare inherited diseases caused by mutations in the genes encoding the proteins involved in normal lysosomal functions, leading to an accumulation of undegraded substrates within lysosomes. Among the most prominent clinical features are neurological impairment and neurodegeneration, arising from widespread cellular dysfunction. The development of powerful and reliable animal model systems that can in vivo recapitulate human LSD pathologies is critical for understanding disease mechanisms and advancing therapeutic strategies. In this study, we identified the

Indexed as

AgingBrainBrain-Gut AxisDrosophila melanogasterLysosomal Storage DiseasesModels, GeneticAnimalsAnimals, Genetically ModifiedDisease Models, AnimalDrosophila ProteinsFemaleHumansMaleRNA InterferenceDrosophila ProteinsagingbrainDrosophila melanogasterFabry diseaseGAL4/UASGaucher diseaseHunter syndromeHurler syndromemidgutNiemann–Pick diseasePompe diseaseRNAiSly diseaseTay–Sachs/Sandhoff disease(s)

Identifiers

PMID41511290
PMCPMC12786133

What OpenQuestion 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 OpenQuestion graph.