Evidence map›Paper›PMID 40650054›Full record

ArticleInternational journal of molecular sciences2025

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II.

Seigo Terawaki, Hiroki Nakanishi, Toko Shibuya, Norio Sakai, Takanobu Otomo

Abstract read
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. 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

5 authors.

Seigo TerawakiDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.ORCID 0000-0001-6019-1628
Hiroki NakanishiLipidome Lab Co., Ltd., Akita 010-0825, Japan.
Toko ShibuyaDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.
Norio SakaiDepartment of Pediatrics, University of Osaka, Suita 565-0871, Japan.ORCID 0000-0003-3374-6709
Takanobu OtomoDepartment of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.ORCID 0000-0001-8490-7299

Funding

Japan Agency for Medical Research and Development JP23ym0126810Japan Agency for Medical Research and Development JP24ym0126810Japanese Society for Inherited Metabolic Diseases Sanofi LSD research grant 2022Japan Society for the Promotion of Science JP17H05088
6 · The paper itself

Abstract

Lysosomal storage diseases are caused by defective lysosomal function, such as impaired lysosomal enzyme activities, which include more than 70 different diseases. Although biomarkers and therapies have been developed to date for some of them, many others remain challenging to diagnose and treat. In this study, an elevated level of Globotriaosylsphingosine (Lyso-Gb3), an already known biomarker for Fabry disease, was confirmed in the knock-out cells of the

Indexed as

BiomarkersGlycolipidsMucolipidosesSphingolipidsAnimalsFabry DiseaseFibroblastsHumansLysosomesSaposinsTransferases (Other Substituted Phosphate Groups)Biomarkersglobotriaosyl lysosphingolipidGlycolipidsGNPTAB protein, humanPSAP protein, humanSaposinsSphingolipidsTransferases (Other Substituted Phosphate Groups)biomarkerLyso-Gb3lysosomal storage diseasemucolipidosis

Identifiers

PMID40650054
PMCPMC12249646

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.